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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:lymphoproliferative syndrome
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Accession:DOID:0060704 term browser browse the term
Definition:A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. (DO)
Synonyms:exact_synonym: Combined immunodeficiency due to ITK deficiency;   Duncan disease;   Duncan's syndrome;   EBVS;   Epstein Barr Virus Induced Lymphoproliferative Disease In Males;   Epstein Barr Virus Infection, Familial Fatal;   Familial Fatal Epstein Barr Infection;   IMD5;   INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO;   Immunodeficiency 5;   Immunodeficiency, X Linked Progressive Combined Variable;   LYP;   Lymphoproliferative Disorder;   Purtilo Syndrome;   Purtilo Syndromes;   X Linked Lymphoproliferative Disease;   X-linked lymphoproliferative diseases;   X-linked lymphoproliferative disorder;   X-linked lymphoproliferative disorders;   X-linked lymphoproliferative syndrome;   X-linked lymphoproliferative syndromes;   XLP;   XLPD;   lymphoproliferative disorders
 related_synonym: EBV infection, severe, susceptibility to;   Lymphoproliferative disorders, susceptibility to
 primary_id: MESH:D008232
 xref: MIM:PS308240;   ORDO:538963


show annotations for term's descendants           Sort by:
lymphoproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO associated with kidney transplantation
associated with Herpesviridae Infections		 RGD PMID:9067691 PMID:16282467 RGD:6482705, RGD:6483039 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35534561 NCBI chr19:10,263,589...10,270,359
Ensembl chr19:10,257,601...10,264,400 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:deletions RGD PMID:15148335 PMID:7539157 RGD:11049166, RGD:1600310 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO RGD PMID:15718420 RGD:11049481 NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:22617429 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il17a interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22617429 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Itk IL2-inducible T-cell kinase ISO ClinVar Annotator: match by term: Lymphoproliferative disorder ClinVar NCBI chr10:31,254,667...31,316,004
Ensembl chr10:30,753,344...30,814,685 		JBrowse link
G Klrk1 killer cell lectin like receptor K1 disease_progression ISO associated with Postoperative Complications and Epstein-Barr Virus Infections; protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:22105417 RGD:39128180 NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:163,081,927...163,092,459 		JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 disease_progression ISO associated with Postoperative Complications and Epstein-Barr Virus Infections; protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:22105417 RGD:39128180 NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:69,616,601...69,660,558 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Duncan disease ClinVar PMID:25741868 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Plaa phospholipase A2, activating protein ISO ClinVar Annotator: match by term: Lymphoproliferative disorder ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 5:114,544,327...114,576,023
Ensembl chr 5:109,428,265...109,460,282 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Duncan's syndrome | ClinVar Annotator: match by term: Epstein Barr virus infection familial fatal | ClinVar Annotator: match by term: Lymphoproliferative disorder | ClinVar Annotator: match by term: Lymphoproliferative syndrome | ClinVar Annotator: match by term: X-linked lymphoproliferative syndrome		 CTD
ClinVar		 PMID:3374620 PMID:3658675 PMID:9536098 PMID:9771704 PMID:9811875 More... NCBI chr  X:126,239,191...126,267,425 JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Duncan disease ClinVar PMID:25741868 NCBI chr 2:175,610,127...175,616,685
Ensembl chr 2:173,312,253...173,318,810 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:deletion:3' utr:*55_*58delTGTG (human) RGD PMID:16734634 RGD:5684949 NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22859607 RGD:6892715 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:nonsense mutation RGD PMID:10560675 RGD:1601413 NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Lymphoproliferative disorder		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr  X:125,756,107...125,803,979
Ensembl chr  X:120,897,907...120,934,700 		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 chr 7:9,569,439...9,607,095
Ensembl chr 7:8,917,786...8,956,475 		JBrowse link
G Rnf20 ring finger protein 20 disease_progression ISO RGD PMID:23412334 RGD:9831405 NCBI chr 5:68,771,507...68,797,240
Ensembl chr 5:63,976,045...64,001,754 		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 chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO DNA:snps, haplotype:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22674224 PMID:22674224 RGD:8657089 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		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 chr 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 disease_progression ISO mRNA:increased expression:mononuclear cell: RGD PMID:15521915 PMID:12100141 RGD:11081076, RGD:11081143 NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984797 PMID:21898527 NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase susceptibility ISO RGD PMID:17065136 RGD:11100012 NCBI chr 3:30,560,172...30,604,758
Ensembl chr 3:10,162,096...10,191,423 		JBrowse link
G Aicda activation-induced cytidine deaminase treatment ISO RGD PMID:19759560 RGD:11039451 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684603 PMID:19684604 NCBI chr20:20,305,693...20,489,689
Ensembl chr20:20,307,731...20,487,433 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 2:185,686,703...185,745,546
Ensembl chr 2:182,997,736...183,056,580 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator severity ISO mRNA:increased expression:bone marrow (human) RGD PMID:25982455 RGD:11076595 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		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 chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr20:13,468,732...13,596,333
Ensembl chr20:13,471,668...13,597,016 		JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:22010212 NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Cast calpastatin ISO protein:increased expresssion:B cell RGD PMID:11264179 RGD:5509822 NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:bone marrow (human) RGD PMID:22391157 RGD:11352824 NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:9292526 RGD:11352271 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:16353080 RGD:11352810 NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:bone marrow, mononuclear cell (human) RGD PMID:21487112 RGD:11250414 NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) RGD PMID:24283754 RGD:11354967 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 NCBI chr 4:31,592,384...31,784,732
Ensembl chr 4:30,646,460...30,829,634 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A susceptibility
disease_progression
no_association		 ISO DNA:missense mutations:cds:
DNA:deletion: :
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia		 CTD
ClinVar
RGD		 PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 More... RGD:11057958, RGD:11251764, RGD:11252081, RGD:11252082 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 disease_progression ISO RGD PMID:25675863 RGD:11252082
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Cebpe CCAAT/enhancer binding protein epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684604 NCBI chr15:32,139,716...32,141,476
Ensembl chr15:28,169,704...28,171,814 		JBrowse link
G Cfb complement factor B ISO DNA:missense mutation:p.R32Q b(human) RGD PMID:6958349 RGD:11041155 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Crebbp CREB binding protein disease_progression ISO DNA:mutations:multiple RGD PMID:25917266 RGD:11060149 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Crlf2 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chr14:118,932...123,632
Ensembl chr14:103,939...108,642 		JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:9250830 RGD:11039038 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 severity ISO RGD PMID:8562939 RGD:734840 NCBI chr 8:66,160,942...66,195,987
Ensembl chr 8:57,264,962...57,300,010 		JBrowse link
G Cyba cytochrome b-245 alpha chain ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:19222940 RGD:11040545 NCBI chr19:67,396,143...67,404,214
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 no_association
susceptibility		 ISO DNA:polymorphism:3'UTR:3801T>C(human)
DNA:polymorphism:cds:2452C>A(p.T461N)(human)
DNA:polymorphism:3"UTR:rs4646903(human)		 RGD PMID:16676594 PMID:23725389 PMID:22964275 RGD:11352728, RGD:11352725, RGD:11352714 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:58,075,367...58,082,312 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 susceptibility ISO DNA:SNP,deletion:splice junction,exon:1934G>A (human)
DNA:polymorphisms: :		 RGD PMID:19593802 PMID:11037802 RGD:11252111, RGD:11352820 NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11774269 NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 disease_progression
susceptibility		 ISO DNA:polymorphism: : RGD PMID:19650988 PMID:22215203 RGD:11353796, RGD:11353805 NCBI chr12:21,919,955...21,960,160
Ensembl chr12:16,806,207...16,846,422 		JBrowse link
G Dhfr dihydrofolate reductase disease_progression ISO DNA:polymorphisms, haplotype:promoter:
DNA:polymorphisms: :-317A>G, 829C>T (human)		 RGD PMID:19861437 PMID:12972803 PMID:9226157 PMID:22969948 RGD:11039542, RGD:11039545, RGD:11039543, RGD:11039544 NCBI chr 2:25,320,895...25,346,004
Ensembl chr 2:23,586,031...23,613,713 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha treatment ISO DNA:mutations:exon, intron:p.R882(human) RGD PMID:25242092 RGD:11041125 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Dntt DNA nucleotidylexotransferase ISO protein:increased activity:peripheral blood,bone marrow: RGD PMID:7020399 RGD:8694149 NCBI chr 1:249,805,802...249,837,685
Ensembl chr 1:239,856,391...239,888,282 		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 PMID:26846104 PMID:26846104 RGD:11098453, RGD:11098453, RGD:11098453 NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Dux4 double homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776115 NCBI chr16:1,565,290...1,575,317
Ensembl chr16:1,558,766...1,568,565 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chr 3:27,978,888...28,127,178
Ensembl chr 3:7,580,683...7,729,007 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chr20:3,924,263...3,941,238
Ensembl chr20:3,919,624...3,941,547 		JBrowse link
G Eng endoglin disease_progression ISO RGD PMID:17572488 RGD:11041565 NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Ephx1 epoxide hydrolase 1 susceptibility
no_association		 ISO DNA:missense mutation, haplotype:exon:p.Y113H (human)
DNA:polymorphisms:exon
DNA:SNPs:exon:rs1051740, rs2234922 (human)
DNA:missense mutation, haplotype:exon:p.H139R (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21983886 PMID:21983886 PMID:22930568 PMID:19593802 PMID:22200898 More... RGD:11252110, RGD:11252113, RGD:11252111, RGD:11252114, RGD:11252110 NCBI chr13:95,246,079...95,275,852
Ensembl chr13:92,714,315...92,790,235 		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:16723154 PMID:16435384 RGD:11252160, RGD:11340204 NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit no_association ISO DNA:missense mutations: :p.D312N, p.K751Q (human)
DNA:haplotype		 RGD PMID:19101034 PMID:21987080 RGD:11252192, RGD:11340201 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Erg ETS transcription factor ERG ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphoid leukemia		 CTD
ClinVar		 PMID:27776115 PMID:27993330 NCBI chr11:48,148,149...48,370,472
Ensembl chr11:34,678,618...34,845,871 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphoid leukemia		 CTD
ClinVar		 PMID:17255265 PMID:26102509 NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISS OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:8429686 RGD:11340211 NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO protein:increased expression:CD34+ bone marrow cell RGD PMID:10500800 PMID:9711907 RGD:11049148, RGD:11049157 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fga fibrinogen alpha chain ISO protein:increased expression:serum (human) RGD PMID:25317080 RGD:11040558 NCBI chr 2:170,672,169...170,679,572
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: FLT3-related condition		 OMIM
CTD
ClinVar		 PMID:11290608 PMID:11442493 PMID:14670924 PMID:24728327 PMID:25741868 More... NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Fpgs folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013492 NCBI chr 3:36,370,505...36,391,314
Ensembl chr 3:15,972,800...15,993,563 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35115686 NCBI chr17:73,544,234...73,575,670
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 3:32,338,213...32,350,963
Ensembl chr 3:11,940,233...11,952,942 		JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:2494952 RGD:11352727 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO RGD PMID:6589021 RGD:11051848 NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:17317918 PMID:24698347 RGD:11352774, RGD:11352812 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:24191316 RGD:11059506 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association
disease_progression		 ISO RGD PMID:15738600 PMID:14607752 PMID:12827651 PMID:10666194 RGD:10755321, RGD:10755410, RGD:10755409, RGD:10450829 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility
disease_progression
no_association		 ISO DNA:transition mutation:exon:
DNA:haplotype:cds:
DNA:polymorphism: :1578 a>G(human)		 RGD PMID:15738600 PMID:10666194 PMID:23979883 RGD:10755321, RGD:10450829, RGD:10755417 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
disease_progression		 ISO RGD PMID:14607752 PMID:10666194 RGD:10755410, RGD:10450829 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G H1f2 H1.2 linker histone, cluster member susceptibility ISO DNA:SNP, haplotype:enhancer: (rs807212) (human) RGD PMID:19806355 RGD:10755490 NCBI chr17:41,818,962...41,820,453
Ensembl chr17:41,388,477...41,392,635 		JBrowse link
G Hck HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17344919 NCBI chr 3:162,031,833...162,074,933
Ensembl chr 3:141,571,587...141,614,693 		JBrowse link
G Hdac1 histone deacetylase 1 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:141,853,989...141,881,111 		JBrowse link
G Hdac2 histone deacetylase 2 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr20:42,101,815...42,126,486
Ensembl chr20:40,548,250...40,571,609 		JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO RGD PMID:23948281 RGD:9681454 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hfe homeostatic iron regulator no_association ISO DNA:missense mutation:cds:p.H63D (human)
DNA:missense mutation:cds:p.C282Y (human)
DNA:missense mutation: :p.H63D (human)		 RGD PMID:10627122 PMID:10627122 PMID:17107905 RGD:10755557, RGD:10755557, RGD:10755558 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hk1 hexokinase 1 ISO protein:decreased activity:platelet RGD PMID:21921332 RGD:11353881 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Hlf HLF transcription factor, PAR bZIP family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr10:75,651,320...75,708,979
Ensembl chr10:75,154,507...75,211,935 		JBrowse link
G Hoxd4 homeo box D4 ISO ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:15776434 NCBI chr 3:80,021,886...80,041,462
Ensembl chr 3:59,614,464...59,631,528 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:SNP: :rs2069727(human) RGD PMID:21067287 RGD:10755691 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism
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
DNA:SNPs: (human)		 CTD
ClinVar
RGD		 PMID:19684604 PMID:25741868 PMID:27993330 PMID:28492532 PMID:24786325 RGD:151347631 NCBI chr14:90,468,696...90,556,522
Ensembl chr14:86,255,065...86,342,416 		JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 9:78,495,670...78,640,896
Ensembl chr 9:71,042,440...71,190,867 		JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr10:83,956,850...84,049,861
Ensembl chr10:83,465,745...83,553,591 		JBrowse link
G Il10 interleukin 10 treatment ISO protein:decreased expression:blood RGD PMID:21653647 PMID:15860861 RGD:11049158, RGD:11049169 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:SNP:intron:rs12203592 (human) RGD PMID:19897031 RGD:11526162 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Itpa inosine triphosphatase treatment
no_association		 ISO DNA:SNPs:exon:94C>A, 138G>A (human)
DNA:SNP:intron		 RGD PMID:22009189 PMID:22009189 RGD:10766474, RGD:10766474 NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Kdm2b lysine demethylase 2B ISO mRNA:increased expression:bone marrow (human) RGD PMID:21310926 RGD:9588255 NCBI chr12:39,224,422...39,362,126
Ensembl chr12:33,574,657...33,701,355 		JBrowse link
G Kdm3b lysine demethylase 3B ISO protein:increased expression:bone marrow, mononuclear cell (human) RGD PMID:22615488 RGD:9586728 NCBI chr18:26,655,004...26,710,814
Ensembl chr18:26,380,964...26,436,628 		JBrowse link
G Kdm6a lysine demethylase 6A severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chr  X:6,920,374...7,060,027
Ensembl chr  X:4,337,750...4,477,062 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:247640 | OMIM:613065		 CTD
MouseDO		 PMID:24736461 PMID:25730765 NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:17910045 PMID:25917266 RGD:11060148, RGD:11060149 NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Lmo2 LIM domain only 2 ISS OMIM:247640 | OMIM:613065 MouseDO NCBI chr 3:110,810,162...110,832,895
Ensembl chr 3:90,365,883...90,377,953 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M680I(human) RGD PMID:22942567 RGD:11531121 NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase disease_progression
treatment		 ISO DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:677C>T (human)		 CTD
RGD		 PMID:16706930 PMID:19923983 PMID:21644011 RGD:10449398, RGD:10449407 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase disease_progression
susceptibility
no_association		 ISO DNA:polymorphism: :66A>G(human)
DNA:SNP::rs10925235(human)
DNA:polymorphism: :2756A>G(human)		 RGD PMID:21618417 PMID:26605150 PMID:15159311 PMID:22453148 RGD:11531141, RGD:11531136, RGD:11531140, RGD:11531137 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: :rs3776455(human)
CTD Direct Evidence: marker/mechanism
DNA:haplotype:cds:		 CTD
RGD		 PMID:17136115 PMID:23940529 PMID:17136115 RGD:11531135, RGD:11531133 NCBI chr 1:36,695,376...36,727,341
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:25784651 RGD:11532748 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility
no_association		 ISO DNA:polymorphisms: :
DNA:polymorphisms,haplotype: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22200898 PMID:25804798 PMID:21888617 PMID:22215203 RGD:11532767, RGD:11532769, RGD:11353805 NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Nbn nibrin ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:29,459,457...29,494,150 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility
disease_progression		 ISO DNA:SNP: :rs3918186(human)
DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)		 RGD PMID:23922896 PMID:20510681 RGD:11533639, RGD:11533646 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Notch3 notch receptor 3 ISS OMIM:247640 | OMIM:613065 MouseDO NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,133,706...11,184,025 		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		 CTD
RGD		 PMID:11774269 PMID:17332311 PMID:11774269 PMID:18444911 RGD:10769359, RGD:10769347 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24076604 NCBI chr14:81,057,727...81,135,866
Ensembl chr14:76,835,637...76,913,641 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chr 1:255,712,797...255,838,285
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Nup214 nucleoporin 214 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphoid leukemia		 CTD
OMIM
ClinVar		 PMID:25741868 NCBI chr 3:35,652,841...35,738,323
Ensembl chr 3:15,255,119...15,340,568 		JBrowse link
G Pag1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 2:93,842,747...93,984,314
Ensembl chr 2:92,057,216...92,069,849 		JBrowse link
G Pax5 paired box 5 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3 | ClinVar Annotator: match by term: PAX5-related condition		 CTD
ClinVar
OMIM		 PMID:24013638 PMID:24728327 PMID:25741868 PMID:26214592 PMID:27993330 More... NCBI chr 5:63,554,784...63,741,380
Ensembl chr 5:58,765,036...58,944,326 		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 chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO mRNA:increased expression:blood (human) RGD PMID:27275197 RGD:11535025 NCBI chr  X:102,862,457...102,867,725
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Prdm14 PR/SET domain 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043588 NCBI chr 5:10,864,137...10,876,666
Ensembl chr 5:6,082,442...6,092,712 		JBrowse link
G Pten phosphatase and tensin homolog ISS OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms, haplotype:cds:HLA-DQA1*01 (human) RGD PMID:9744491 RGD:11041762 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)
DNA:polymorphisms, haplotypes:cds:multiple		 RGD PMID:9744491 PMID:22434102 RGD:11041762, RGD:11041749 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,584,411...11,601,972 		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 chr13:47,596,324...47,609,390
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310 		JBrowse link
G Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 5:133,823,093...133,837,737
Ensembl chr 5:128,587,701...128,600,976 		JBrowse link
G Tal2 TAL bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 5:73,206,372...73,212,929
Ensembl chr 5:68,411,012...68,417,569 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
G Tcn2 transcobalamin 2 ISO protein:altered activity:plasma: RGD PMID:8754152 RGD:11059889 NCBI chr14:83,036,935...83,052,187
Ensembl chr14:78,813,343...78,828,489 		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:23066086 PMID:15621763 RGD:11038654, RGD:11038667 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:12730115 RGD:2317244 NCBI chr15:105,606,082...105,660,715
Ensembl chr15:99,201,489...99,254,049 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tpmt thiopurine S-methyltransferase treatment
no_association		 ISO DNA:SNPs:multiple
DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human)
DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human)
DNA:SNPs: :multiple		 RGD PMID:17164697 PMID:22009189 PMID:22009189 PMID:24499706 RGD:11038720, RGD:10766474, RGD:10766474, RGD:11038723 NCBI chr17:17,850,308...17,868,976
Ensembl chr17:17,644,173...17,662,709 		JBrowse link
G Ttc12 tetratricopeptide repeat domain 12 ISO DNA:hypermethylation:5'end:CpG dinucleotide RGD PMID:17657212 RGD:405866376 NCBI chr 8:58,696,381...58,743,857
Ensembl chr 8:49,799,920...49,847,087 		JBrowse link
G Tyms thymidylate synthetase treatment ISO DNA:repeats: : rs347430033(human) RGD PMID:25007187 RGD:11080979 NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536 		JBrowse link
G Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chr  Y:1,018,111...1,178,493
Ensembl chr  Y:924,168...1,103,422 		JBrowse link
G Vpreb1a V-set pre-B cell surrogate light chain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr11:97,631,174...97,632,051
Ensembl chr11:84,126,969...84,127,846 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility
no_association		 ISO DNA:missense mutation: :p.R194W (human)
DNA:missense mutation, haplotype: :p.R399Q (human)
DNA:missense mutation: :p.R399Q (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21983886 PMID:19101034 PMID:21983886 PMID:19101034 RGD:11252192, RGD:11252110, RGD:11252192 NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701 		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 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 susceptibility ISO DNA:polymorphism:G15631T RGD PMID:19144407 RGD:6480472 NCBI chr 1:90,780,468...90,859,852
Ensembl chr 1:81,652,787...81,732,143 		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 chr 3:173,950,530...173,962,188
Ensembl chr 3:153,531,193...153,542,851 		JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:9245985 PMID:10187774 PMID:12114496 PMID:14684682 PMID:15880681 More... NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591 		JBrowse link
G Ada adenosine deaminase ISO
ISS		 OMIM:102700
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
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088 		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 chr 3:172,910,670...172,922,064
Ensembl chr 3:152,491,220...152,502,636 		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 chr13:80,576,264...80,651,422
Ensembl chr13:78,043,307...78,122,263 		JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:54,200,617...54,211,770
Ensembl chr 8:45,303,852...45,315,022 		JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:25741868 PMID:28492532 More... NCBI chr 8:54,177,572...54,184,087
Ensembl chr 8:45,281,204...45,287,147 		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 chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		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 chr 3:174,264,869...174,389,940
Ensembl chr 3:153,845,787...153,970,588 		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 chr 3:173,988,443...173,994,320
Ensembl chr 3:153,568,381...153,576,215 		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 chr 3:173,634,551...173,639,999
Ensembl chr 3:153,191,090...153,220,651 		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 chr 3:153,481,718...153,505,403
Ensembl chr 3:153,481,705...153,505,759 		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 chr 3:174,442,965...174,716,723
Ensembl chr 3:154,023,661...154,061,185 		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 chr 3:173,731,739...173,738,651
Ensembl chr 3:153,312,396...153,319,310 		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 chr 3:172,560,781...172,567,291
Ensembl chr 3:152,141,346...152,147,858 		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 chr 3:152,110,225...152,129,693
Ensembl chr 3:152,110,253...152,128,711 		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 chr 3:151,736,020...151,738,715
Ensembl chr 3:151,735,997...151,736,863 		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 chr 3:172,606,220...172,667,758
Ensembl chr 3:152,186,787...152,248,320 		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 chr 3:172,091,591...172,116,497
Ensembl chr 3:151,672,493...151,696,980 		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 Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID DUE TO ADA DEFICIENCY		 ClinVar PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		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 chr 3:172,414,246...172,478,678
Ensembl chr 3:151,994,778...152,058,904 		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 chr 3:152,515,237...152,521,455
Ensembl chr 3:152,515,237...152,521,455 		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 chr 3:173,255,028...173,262,432
Ensembl chr 3:152,835,644...152,842,960 		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 chr 3:173,539,966...173,554,984
Ensembl chr 3:153,120,632...153,135,865 		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 chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		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 chr 3:172,124,765...172,153,221
Ensembl chr 3:151,705,288...151,733,708 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:25326637 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:29,459,457...29,494,150 		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 chr 3:174,155,731...174,188,862
Ensembl chr 3:153,736,420...153,769,553 		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 chr 3:173,985,996...173,988,717
Ensembl chr 3:153,566,660...153,569,380 		JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:12604777 PMID:16439204 PMID:16439205 PMID:16571728 PMID:20597108 More... NCBI chr 9:83,974,995...84,071,161
Ensembl chr 9:76,526,324...76,622,444 		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 chr 3:174,550,420...174,560,907
Ensembl chr 3:154,132,328...154,136,991 		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 chr 3:172,486,417...172,504,607
Ensembl chr 3:152,066,975...152,085,149 		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 chr 3:173,111,856...173,145,389
Ensembl chr 3:152,693,700...152,725,997 		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 chr 3:153,614,147...153,627,079
Ensembl chr 3:153,614,147...153,627,079 		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 chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887 		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 chr 3:172,749,871...172,817,514
Ensembl chr 3:152,366,041...152,398,082 		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 chr 3:173,994,162...174,011,982
Ensembl chr 3:153,574,825...153,592,647 		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 chr 3:172,590,815...172,601,584
Ensembl chr 3:152,171,382...152,182,151 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:25741868 PMID:28492532 PMID:30723080 NCBI chr 7:111,981,825...112,009,201
Ensembl chr 7:110,116,260...110,128,720 		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 chr 3:108,372,087...108,383,184
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:10777560 PMID:11313270 PMID:15025726 PMID:16960852 PMID:23243423 More... NCBI chr 3:108,357,399...108,367,186
Ensembl chr 3:87,902,238...87,911,066 		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 chr 3:173,553,389...173,565,869
Ensembl chr 3:153,134,140...153,146,513 		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 chr 3:172,940,404...173,004,490
Ensembl chr 3:152,524,095...152,584,780 		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 chr 3:173,574,239...173,592,923
Ensembl chr 3:153,154,896...153,173,580 		JBrowse link
G Semg1 semenogelin 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 chr 3:173,329,413...173,332,261
Ensembl chr 3:152,910,034...152,912,882 		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 chr 3:152,301,882...152,321,327
Ensembl chr 3:152,301,772...152,321,808 		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 chr 3:174,115,833...174,155,112
Ensembl chr 3:153,696,517...153,735,765 		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 chr 3:174,561,174...174,623,893
Ensembl chr 3:154,141,872...154,204,606 		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 chr 3:174,659,683...174,671,978
Ensembl chr 3:154,240,391...154,252,690 		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 chr 3:174,431,688...174,442,852
Ensembl chr 3:154,012,416...154,023,488 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:173,501,573...173,503,822
Ensembl chr 3:153,082,369...153,084,453 		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 chr 3:153,522,474...153,532,235
Ensembl chr 3:153,522,486...153,532,221 		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 chr 3:173,981,863...173,983,818
Ensembl chr 3:153,562,528...153,564,480 		JBrowse link
G Spint3 serine peptidase inhibitor, Kunitz type, 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 chr 3:173,713,314...173,716,062
Ensembl chr 3:153,294,010...153,296,779 		JBrowse link
G Spint4 serine peptidase inhibitor, Kunitz type 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,430,633...153,432,821
Ensembl chr 3:153,430,633...153,433,439 		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 chr 3:173,165,238...173,247,135
Ensembl chr 3:152,745,681...152,827,744 		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 chr 3:173,610,332...173,637,624
Ensembl chr 3:153,191,090...153,220,651 		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 chr 3:173,932,611...173,935,339
Ensembl chr 3:153,513,271...153,516,029 		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 chr 3:173,148,737...173,165,689
Ensembl chr 3:152,729,349...152,746,373 		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 chr 3:172,272,718...172,400,235
Ensembl chr 3:151,853,294...151,980,749 		JBrowse link
G Tp53rka Tp53 tumor protein p53 regulating kinase 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 chr 3:174,638,962...174,645,198
Ensembl chr 3:154,220,851...154,224,328 		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 chr 3:153,200,792...153,204,337
Ensembl chr 3:153,200,789...153,204,349 		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 chr 3:172,697,683...172,715,973
Ensembl chr 3:152,278,303...152,296,513 		JBrowse link
G Ube2c ubiquitin-conjugating enzyme E2C 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 chr 3:173,925,975...173,928,375
Ensembl chr 3:153,506,636...153,513,339 		JBrowse link
G Wfdc10a WAP four-disulfide core domain 10A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,390,067...153,391,420
Ensembl chr 3:153,390,067...153,391,420 		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 NCBI chr 3:153,397,585...153,406,407 JBrowse link
G Wfdc12 WAP four-disulfide core domain 12 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 chr 3:173,280,844...173,282,167
Ensembl chr 3:152,862,341...152,862,690 		JBrowse link
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 chr 3:153,419,553...153,421,306
Ensembl chr 3:153,419,648...153,421,221 		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 chr 3:173,706,091...173,735,055
Ensembl chr 3:153,286,131...153,292,807 		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 chr 3:173,884,206...173,898,294
Ensembl chr 3:153,464,862...153,478,952 		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 chr 3:173,268,410...173,274,253
Ensembl chr 3:152,849,025...152,854,904 		JBrowse link
G Wfdc6a WAP four-disulfide core domain 6A 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 chr 3:173,724,681...173,728,489
Ensembl chr 3:153,305,336...153,309,144 		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 chr 3:153,323,503...153,339,849
Ensembl chr 3:153,324,413...153,339,842 		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 chr 3:153,380,554...153,389,055
Ensembl chr 3:153,380,649...153,391,261 		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 chr 3:173,078,904...173,101,508
Ensembl chr 3:152,659,651...152,682,105 		JBrowse link
G Zfp334 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 chr 3:174,531,835...174,544,374
Ensembl chr 3:154,113,561...154,125,057 		JBrowse link
G Zfp335 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 chr 3:174,046,789...174,073,076
Ensembl chr 3:153,627,467...153,647,054 		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 chr 3:153,559,104...153,562,821
Ensembl chr 3:153,558,970...153,562,915 		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 chr 3:153,542,741...153,558,022
Ensembl chr 3:153,542,743...153,558,018 		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 chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr12:18,735,088...18,872,045
Ensembl chr12:13,621,087...13,758,112 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 8:123,054,505...123,060,244
Ensembl chr 8:114,176,974...114,178,056 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr10:84,594,399...84,604,514
Ensembl chr10:84,097,381...84,108,309 		JBrowse link
G Cd163 CD163 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cd274 CD274 molecule disease_progression ISO RGD PMID:27418641 RGD:41412177 NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Cd68 Cd68 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,381,815...54,383,697 		JBrowse link
G Cd80 Cd80 molecule IMP RGD PMID:10590132 RGD:6902938 NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030 		JBrowse link
G Cd86 CD86 molecule IMP RGD PMID:10590132 RGD:6902938 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Csnk1a1 casein kinase 1, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr18:57,285,156...57,320,540
Ensembl chr18:55,017,055...55,049,271 		JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:161,170,295...161,217,073
Ensembl chr 3:140,709,991...140,756,696 		JBrowse link
G Csnk2b casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:3,704,833...3,709,999
Ensembl chr20:3,698,733...3,707,133 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphism:promoter: -670 G>A(human)
protein:increased expression:peripheral blood mononuclear cell:		 RGD PMID:17962369 PMID:7513372 RGD:11049147, RGD:11049453 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23962110 PMID:23797717 RGD:38456007 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:44,322,635...44,514,498
Ensembl chr20:42,766,369...42,959,911 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:73,544,234...73,575,670
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr15:105,445,129...105,457,192
Ensembl chr15:99,036,367...99,050,559 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 4:81,867,354...81,875,886
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
G Icos inducible T-cell co-stimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:69,862,042...69,900,864
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Ifna1 interferon, alpha 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20370541 NCBI chr 5:108,143,240...108,143,809
Ensembl chr 5:103,097,356...103,097,925 		JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23962110 PMID:8800741 RGD:10755707 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:78,495,670...78,640,896
Ensembl chr 9:71,042,440...71,190,867 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23962110 PMID:8704212 RGD:11049460 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Jak3 Janus kinase 3 ISO DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Myb MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:CD4+ T cell: RGD PMID:27307595 RGD:11532670 NCBI chr 1:17,759,309...17,793,306
Ensembl chr 1:15,939,761...15,973,057 		JBrowse link
G Notch1 notch receptor 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:149,385,587...149,416,330 		JBrowse link
G Prkcb protein kinase C, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 1:186,263,397...186,594,743
Ensembl chr 1:176,832,226...177,163,536 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tal2 TAL bHLH transcription factor 2 ISO RGD PMID:1763056 RGD:1599285 NCBI chr 5:73,206,372...73,212,929
Ensembl chr 5:68,411,012...68,417,569 		JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chr19:51,887,221...51,915,756
Ensembl chr19:34,977,471...35,005,819 		JBrowse link
G Tlx1 T-cell leukemia, homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:1717256 PMID:1683261 RGD:1599439 NCBI chr 1:253,954,197...253,960,458
Ensembl chr 1:244,005,057...244,011,318 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:2,248,856...2,295,905
Ensembl chr 9:2,157,900...2,208,937 		JBrowse link
agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blnk B-cell linker susceptibility ISO DNA:splice-site mutation
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10583958 RGD:1600518 NCBI chr 1:249,703,064...249,770,533
Ensembl chr 1:239,753,648...239,821,113 		JBrowse link
G Btk Bruton tyrosine kinase susceptibility ISO DNA:insertions, point mutations
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:15142874 PMID:8162018 RGD:1600526 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 1:190,417,853...190,424,494
Ensembl chr 1:180,987,286...180,993,975 		JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:80,493,581...80,497,935 		JBrowse link
G Cd79b CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625 		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 chr 3:33,902,299...33,934,989
Ensembl chr 3:13,510,513...13,536,202 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314 		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 chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:80,493,581...80,497,935 		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 chr 3:97,529,509...97,548,204
Ensembl chr 3:77,073,012...77,092,393 		JBrowse link
agammaglobulinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C20h22orf15 similar to human chromosome 22 open reading frame 15 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,720,651...12,725,304
Ensembl chr20:12,723,160...12,726,059 		JBrowse link
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 chr20:12,725,274...12,730,295
Ensembl chr20:12,725,842...12,732,763 		JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027 		JBrowse link
G Mif macrophage migration inhibitory factor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,730,284...12,739,067
Ensembl chr20:12,730,836...12,739,628 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620 		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 chr20:12,716,862...12,720,108
Ensembl chr20:12,716,779...12,719,520 		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 3, autosomal recessive | ClinVar Annotator: match by term: CD79A-related condition OMIM
ClinVar		 PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 More... NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:80,493,581...80,497,935 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:89,608,408...89,614,390
Ensembl chr 1:80,480,951...80,486,508
Ensembl chr 7:80,480,951...80,486,508 		JBrowse link
agammaglobulinemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:249,325,082...249,357,383
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
G Blnk B-cell linker ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive | ClinVar Annotator: match by term: B cell linker protein deficiency OMIM
ClinVar		 PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 1:249,703,064...249,770,533
Ensembl chr 1:239,753,648...239,821,113 		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 chr 1:239,561,506...239,655,771
Ensembl chr 1:239,561,987...239,682,416 		JBrowse link
G Ccnj cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:249,608,991...249,626,798 JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:249,374,810...249,502,310
Ensembl chr 1:239,425,430...239,552,317 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:249,363,428...249,374,698
Ensembl chr 1:239,415,203...239,425,272 		JBrowse link
G Zfp518a 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 chr 1:249,668,815...249,694,401
Ensembl chr 1:239,719,505...239,744,979 		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 chr 3:33,902,299...33,934,989
Ensembl chr 3:13,510,513...13,536,202 		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 chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625 		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 chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631 		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 chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314 		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 chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
agammaglobulinemia 8B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307 NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314 		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 | ClinVar Annotator: match by term: SLC39A7-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30718914 NCBI chr20:4,824,967...4,828,431
Ensembl chr20:4,822,012...4,826,537 		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
RGD		 PMID:16151469 PMID:19503098 PMID:21345110 PMID:22155737 PMID:22920921 More... RGD:1600902 NCBI chr 6:28,631,431...29,351,321
Ensembl chr 6:22,880,625...23,598,034 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157164 NCBI chr 6:135,523,604...135,529,687
Ensembl chr 6:129,702,383...129,707,268 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035 		JBrowse link
G Npm1 nucleophosmin 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr10:18,245,739...18,255,913
Ensembl chr10:17,739,941...17,751,645
Ensembl chr  X:17,739,941...17,751,645 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261581 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908157 PMID:17261581 NCBI chr 5:162,406,387...162,451,620
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:50,674,678...50,677,653 		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 chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534 		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 | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:16199547 PMID:18948840 PMID:22237435 PMID:25741868 More... NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:231,746,548...231,759,554 		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 | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:25741868 PMID:28492532 NCBI chr 1:241,052,235...241,083,737
Ensembl chr 1:231,639,314...231,670,381 		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 chr13:75,957,047...75,984,868
Ensembl chr13:73,424,480...73,450,466 		JBrowse link
G C13h1orf105 similar to human chromosome 1 open reading frame 105 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:76,846,595...76,889,660
Ensembl chr13:74,313,322...74,356,322 		JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542 		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 chr13:75,870,479...75,885,466
Ensembl chr13:73,337,257...73,352,114 		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 chr 1:241,428,048...241,429,366
Ensembl chr 1:232,014,880...232,016,195 		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 chr13:75,842,078...75,870,319
Ensembl chr13:73,308,726...73,336,934 		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 chr13:76,892,381...77,371,346
Ensembl chr13:74,359,213...74,838,108 		JBrowse link
G Fas Fas cell surface death receptor ISO
ISS		 DNA:mutations:cds:555C>T,889A>G(human)
OMIM:601859
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
OMIM
RGD		 PMID:1090885 PMID:2149015 PMID:4852259 PMID:7540117 PMID:9028321 More... RGD:12903983, RGD:12904015, RGD:12903956 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand ISO
ISS		 OMIM:601859
CTD Direct Evidence: marker/mechanism
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
MouseDO
CTD
ClinVar		 PMID:8787672 PMID:9536098 PMID:16627752 PMID:17576681 PMID:17605793 More... NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Gas5 growth arrest specific 5 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:75,836,963...75,840,284 JBrowse link
G Ifit1 interferon-induced protein with tetratricopeptide repeats 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr 1:241,565,197...241,567,262
Ensembl chr 1:232,127,170...232,154,435 		JBrowse link
G Ifit2 interferon-induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 1:241,515,735...241,521,799
Ensembl chr 1:232,102,570...232,108,635 		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 chr 1:241,527,326...241,532,469
Ensembl chr 1:232,114,166...232,119,307 		JBrowse link
G Itk IL2-inducible T-cell kinase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:25741868 NCBI chr10:31,254,667...31,316,004
Ensembl chr10:30,753,344...30,814,685 		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 chr13:75,896,802...75,941,724
Ensembl chr13:73,363,455...73,408,337 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 1:241,437,524...241,470,936
Ensembl chr 1:232,024,356...232,057,633 		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 chr 1:240,906,706...240,925,053
Ensembl chr 1:231,493,498...231,511,845 		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 chr 1:240,776,650...240,789,997
Ensembl chr 1:231,363,646...231,376,784 		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 chr 1:240,946,101...240,977,961
Ensembl chr 1:231,532,893...231,564,567 		JBrowse link
G Lipm lipase, family member M ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:25741868 PMID:28492532 NCBI chr 1:241,031,382...241,050,796
Ensembl chr 1:231,618,284...231,637,410 		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 | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:25741868 PMID:28492532 NCBI chr 1:240,998,154...241,016,658
Ensembl chr 1:231,584,956...231,603,468 		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 chr13:77,419,393...77,433,228
Ensembl chr13:74,886,155...74,899,870 		JBrowse link
G Mir199a2 microRNA 199a-2 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:77,116,225...77,116,334
Ensembl chr13:74,582,954...74,583,063 		JBrowse link
G Mir214 microRNA 214 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:77,121,645...77,121,752
Ensembl chr13:74,588,372...74,588,481 		JBrowse link
G Mir3120 microRNA 3120 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:77,121,647...77,121,763
Ensembl chr13:74,588,372...74,588,481 		JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		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 chr13:77,509,963...77,520,361
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		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 chr13:76,876,894...76,879,420
Ensembl chr13:74,296,854...74,346,211 		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 chr13:76,062,082...76,072,631
Ensembl chr13:73,528,210...73,539,355 		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 chr13:75,707,098...75,779,114
Ensembl chr13:73,173,946...73,238,839 		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 chr 1:240,450,702...240,723,472
Ensembl chr 1:231,037,486...231,309,823 		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 chr13:75,790,558...75,804,826
Ensembl chr13:73,257,179...73,284,293 		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 chr 1:241,597,165...241,674,821
Ensembl chr 1:232,185,907...232,262,141 		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 chr13:75,984,133...76,057,581
Ensembl chr13:73,451,115...73,524,239 		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 | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:25741868 PMID:28492532 NCBI chr 1:241,095,695...241,158,225
Ensembl chr 1:231,699,995...231,745,032 		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 chr13:76,726,095...76,791,174
Ensembl chr13:74,193,573...74,257,896 		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 chr13:76,366,790...76,440,673
Ensembl chr13:73,831,252...73,843,169 		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 chr13:76,256,654...76,280,133
Ensembl chr13:73,723,329...73,746,788 		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 chr13:77,453,135...77,475,909
Ensembl chr13:74,919,880...74,933,686 		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 chr13:75,805,272...75,836,702
Ensembl chr13:73,280,544...73,337,124 		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 chr 9:69,321,072...69,490,630
Ensembl chr 9:61,827,139...61,905,699 		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 chr 9:68,107,310...68,180,192
Ensembl chr 9:60,613,167...60,670,737 		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 chr 9:68,685,942...68,801,353
Ensembl chr 9:61,190,566...61,301,809 		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 chr 9:67,929,069...68,024,993
Ensembl chr 9:60,434,925...60,530,806 		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 chr 9:68,996,419...69,046,480
Ensembl chr 9:61,506,956...61,550,462 		JBrowse link
G Casp8 caspase 8 ISO
ISS		 OMIM:607271
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B | ClinVar Annotator: match by term: Caspase-8 deficiency		 OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:11343122 PMID:12353035 PMID:12577056 PMID:15601643 More... NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542 		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 chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685 		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 chr 9:68,205,759...68,299,218
Ensembl chr 9:60,711,715...60,802,777 		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 chr 9:67,679,502...67,747,226
Ensembl chr 9:60,185,452...60,237,034 		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 chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 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 chr 9:69,249,841...69,299,146
Ensembl chr 9:61,755,790...61,805,123 		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 chr 9:68,834,334...68,902,543
Ensembl chr 9:61,340,249...61,408,483 		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 chr 9:67,809,731...67,837,793
Ensembl chr 9:60,315,582...60,343,648 		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 chr 9:68,425,538...68,428,357
Ensembl chr 9:60,930,875...60,935,781 		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 chr 9:68,906,148...68,964,078
Ensembl chr 9:61,412,091...61,470,134 		JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,862,042...69,900,864
Ensembl chr 9:62,383,832...62,405,672 		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 chr 9:68,063,867...68,103,050
Ensembl chr 9:60,569,734...60,611,797 		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 chr 9:69,069,326...69,237,932
Ensembl chr 9:61,575,356...61,736,750 		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 chr 9:67,623,417...67,633,629
Ensembl chr 9:60,129,154...60,139,446 		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 chr 9:68,614,992...68,638,911
Ensembl chr 9:61,120,929...61,144,810 		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 chr 9:69,397,272...69,484,174
Ensembl chr 9:61,907,758...61,961,209 		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 chr 9:67,908,277...67,927,224
Ensembl chr 9:60,414,182...60,433,084 		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 chr 9:68,572,901...68,602,803
Ensembl chr 9:61,077,435...61,108,761 		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 chr 9:68,027,481...68,066,731
Ensembl chr 9:60,535,233...60,572,567 		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 chr 9:67,842,680...67,909,786
Ensembl chr 9:60,350,012...60,413,996 		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 chr 9:68,969,547...68,996,811
Ensembl chr 9:61,475,517...61,502,469 		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 chr16:5,775,681...5,806,122
Ensembl chr16:5,769,215...5,799,352 		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 chr16:5,833,521...5,867,578
Ensembl chr16:5,827,088...5,861,120 		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:1875403 PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 More... NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO 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:2407301 PMID:2674680 PMID:2989702 PMID:3122217 More... NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		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 chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		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 chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215 		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 chr 9:69,321,072...69,490,630
Ensembl chr 9:61,827,139...61,905,699 		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 chr 9:68,107,310...68,180,192
Ensembl chr 9:60,613,167...60,670,737 		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 chr 9:68,685,942...68,801,353
Ensembl chr 9:61,190,566...61,301,809 		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 chr 9:67,929,069...68,024,993
Ensembl chr 9:60,434,925...60,530,806 		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 chr 9:68,996,419...69,046,480
Ensembl chr 9:61,506,956...61,550,462 		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 chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542 		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 chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685 		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 chr 9:68,205,759...68,299,218
Ensembl chr 9:60,711,715...60,802,777 		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 chr 9:67,679,502...67,747,226
Ensembl chr 9:60,185,452...60,237,034 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V | ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION | ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION OMIM
ClinVar		 PMID:8817351 PMID:9259273 PMID:9398726 PMID:9536098 PMID:10189842 More... NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 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 chr 9:69,249,841...69,299,146
Ensembl chr 9:61,755,790...61,805,123 		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 chr 9:68,834,334...68,902,543
Ensembl chr 9:61,340,249...61,408,483 		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 chr 9:67,809,731...67,837,793
Ensembl chr 9:60,315,582...60,343,648 		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 chr 9:68,425,538...68,428,357
Ensembl chr 9:60,930,875...60,935,781 		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 chr 9:68,906,148...68,964,078
Ensembl chr 9:61,412,091...61,470,134 		JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,862,042...69,900,864
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION ClinVar PMID:15176425 PMID:15840476 PMID:16432067 PMID:16831322 PMID:17905336 More... NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:10,826,928...10,859,008 		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 chr 9:68,063,867...68,103,050
Ensembl chr 9:60,569,734...60,611,797 		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 chr 9:69,069,326...69,237,932
Ensembl chr 9:61,575,356...61,736,750 		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 chr 9:67,623,417...67,633,629
Ensembl chr 9:60,129,154...60,139,446 		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 chr 9:68,614,992...68,638,911
Ensembl chr 9:61,120,929...61,144,810 		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 chr 9:69,397,272...69,484,174
Ensembl chr 9:61,907,758...61,961,209 		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 chr 9:67,908,277...67,927,224
Ensembl chr 9:60,414,182...60,433,084 		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 chr 9:68,572,901...68,602,803
Ensembl chr 9:61,077,435...61,108,761 		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 chr 9:68,027,481...68,066,731
Ensembl chr 9:60,535,233...60,572,567 		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 chr 9:67,842,680...67,909,786
Ensembl chr 9:60,350,012...60,413,996 		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 chr 9:68,969,547...68,996,811
Ensembl chr 9:61,475,517...61,502,469 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chr13:22,442,930...22,501,257
Ensembl chr13:21,928,408...21,986,695 		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:9580660 PMID:23623386 PMID:25741868 PMID:28492532 NCBI chr10:2,926,085...2,958,176
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369 		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 chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		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 chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
B-Cell Chronic Lymphocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 susceptibility ISO DNA:SNPs,haplotype: :rs1481012,rs2231142(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Acoxl acyl-CoA oxidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:135,514,340...135,820,291
Ensembl chr 3:115,061,060...115,364,686 		JBrowse link
G Aicda activation-induced cytidine deaminase disease_progression ISO RGD PMID:21133730 RGD:11039455 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Apoe apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr14:102,230,147...102,325,289
Ensembl chr14:98,030,461...98,124,180 		JBrowse link
G Bcl2 BCL2, apoptosis regulator severity
treatment
no_association		 ISO protein:increased expression:B cell (human)
CTD Direct Evidence: marker/mechanism
DNA:snp:promoter:g.-938C>A (human)		 CTD
RGD		 PMID:21750559 PMID:23770605 PMID:20001236 PMID:17296974 PMID:16960146 More... RGD:11526110, RGD:11522735, RGD:11526104, RGD:11526105 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bmf Bcl2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:125,953,466...125,974,087
Ensembl chr 3:105,499,538...105,520,145 		JBrowse link
G Btk Bruton tyrosine kinase treatment ISO RGD PMID:23045577 RGD:11040699 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cbl Cbl proto-oncogene severity ISO DNA:hypophosphorylation:CD5+ B cell:
mRNA,protein:increased expression:CD5+ B cell:		 RGD PMID:17804547 PMID:17804547 RGD:11038803, RGD:11038803 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Ccdc50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr11:86,837,624...86,900,164
Ensembl chr11:73,334,248...73,395,150 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd5 Cd5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 1:216,790,245...216,811,209
Ensembl chr 1:207,365,337...207,386,313 		JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:B lymphocyte, cell surface (human)
DNA:polymorphism:multiple (human)
mRNA, protein:splice variants, alternative forms:exon 3 (human)		 RGD PMID:9269755 PMID:10552962 PMID:10090943 RGD:11250403, RGD:151665202, RGD:151665190 NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 1:144,709,278...144,817,388
Ensembl chr 1:135,300,461...135,409,760 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO protein:increased expression:T cell RGD PMID:15914560 PMID:16094420 RGD:11352246, RGD:11344923 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO RGD PMID:18077792 RGD:11251735 NCBI chr  X:157,751,651...157,757,796 JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit severity ISO DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:22739018 PMID:19484764 RGD:11252203, RGD:11252204 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 9:101,501,061...101,609,092
Ensembl chr 9:94,053,726...94,162,212 		JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fcgr3a Fc gamma receptor 3A no_association ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14563637 RGD:11352260 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gnas GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il10 interleukin 10 no_association
disease_progression		 ISO DNA:SNPs: :multiple
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
protein:increased expression:serum		 RGD PMID:19573080 PMID:19573080 PMID:22945689 PMID:10638947 RGD:11049165, RGD:11049165, RGD:11041895, RGD:11049174 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr13:44,949,989...44,958,714
Ensembl chr13:42,399,138...42,405,473 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta severity ISO DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:		 RGD PMID:18271063 PMID:10870116 RGD:11051967, RGD:11522755 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18006695 PMID:10870116 RGD:11522755 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18758461 PMID:12393648 PMID:12079517 RGD:11526160, RGD:11530024 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Itga4 integrin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chr 3:84,569,487...84,646,276
Ensembl chr 3:64,163,085...64,233,715 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 2:222,340,541...222,453,931
Ensembl chr 2:219,666,592...219,779,794 		JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:57,371,349...57,371,453
Ensembl chr18:55,101,006...55,101,110 		JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:57,369,983...57,370,070
Ensembl chr18:55,099,640...55,099,727 		JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO RGD PMID:19911856 RGD:2316994 NCBI chr 1:217,331,274...217,351,934
Ensembl chr 1:207,906,374...207,918,512 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chr12:39,550,531...39,594,984
Ensembl chr12:33,879,745...33,934,619 		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 chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542411 NCBI chr19:62,456,196...62,592,684
Ensembl chr19:45,547,416...45,683,930 		JBrowse link
G Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr18:62,255,970...62,262,384
Ensembl chr18:59,986,017...59,992,429 		JBrowse link
G Polb DNA polymerase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr16:76,081,903...76,105,174
Ensembl chr16:69,379,400...69,404,812 		JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr 6:135,282,947...135,419,591
Ensembl chr 6:129,461,648...129,598,346 		JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chr  X:102,862,457...102,867,725
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Prkd2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 1:86,640,095...86,670,476
Ensembl chr 1:77,513,986...77,542,376 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Qpct glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 6:21,716,824...21,748,895
Ensembl chr 6:15,964,657...15,996,711 		JBrowse link
G Rbl2 RB transcriptional corepressor like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr19:32,049,690...32,096,467
Ensembl chr19:15,876,853...15,923,572 		JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158541 NCBI chr 9:63,986,829...64,026,723
Ensembl chr 9:56,492,403...56,532,300 		JBrowse link
G Sp140 SP140 nuclear body protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 9:93,672,536...93,722,596
Ensembl chr 9:86,224,513...86,274,542 		JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO RGD PMID:17344921 RGD:11038662 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21812019 RGD:5685033 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tnf tumor necrosis factor disease_progression ISO protein:increased expression:bone marrow, blood, lymphocyte RGD PMID:12010662 PMID:22945689 RGD:10449463, RGD:11041895 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b susceptibility ISO DNA:SNP: :1322A>G (human)
DNA:missense mutation:cds:p.E228A (c.683A>C) (human)		 RGD PMID:15531454 PMID:16217763 RGD:11038718, RGD:11038717 NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr13:22,442,930...22,501,257
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr15:60,083,008...60,114,479
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chr10:54,898,805...54,901,815
Ensembl chr10:54,400,065...54,403,042 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 8:112,766,791...112,815,203
Ensembl chr 8:103,887,865...103,931,674 		JBrowse link
G Tp53 tumor protein p53 disease_progression ISO DNA:deletion: :
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8118819 PMID:9242456 PMID:9662334 PMID:10432928 PMID:10589545 More... RGD:11075074 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 severity
no_association		 ISO DNA:SNP: :p.R399Q (rs25487) (human)
DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)		 RGD PMID:19484764 PMID:19484764 RGD:11252204, RGD:11252204 NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 susceptibility ISO DNA:SNP: :rs6857600(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO RGD PMID:17251349 RGD:11039449 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Bcl2l2 Bcl2-like 2 disease_progression ISO RGD PMID:28094768 RGD:14394511 NCBI chr15:32,326,686...32,337,834
Ensembl chr15:28,356,807...28,361,624 		JBrowse link
G Bcl6 BCL6, transcription repressor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr11:90,358,753...90,382,049
Ensembl chr11:76,854,090...76,877,389 		JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr20:4,728,282...4,737,286
Ensembl chr20:4,728,151...4,735,388 		JBrowse link
G Btk Bruton tyrosine kinase treatment ISO human cell in a mouse model RGD PMID:25662332 PMID:28348046 RGD:11040764, RGD:124713554 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chr 7:113,341,030...113,358,716
Ensembl chr 7:111,460,656...111,477,973 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:8469286 RGD:10450244 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11042651 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Eaf2 ELL associated factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20564326 NCBI chr11:77,465,585...77,509,993
Ensembl chr11:63,960,200...64,004,610 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity
treatment		 ISO
ISS		 MouseDO
RGD		 PMID:23982173 PMID:29456795 RGD:10755356, RGD:126781726 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Il21r interleukin 21 receptor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522 		JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24837469 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kat5 lysine acetyltransferase 5 severity ISO RGD PMID:17728759 RGD:9588481 NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:202,895,751...202,903,458 		JBrowse link
G Lgals1 galectin 1 IEP protein:increased expression:primary tumor (rat) RGD PMID:16733672 RGD:2316550 NCBI chr 7:112,365,695...112,368,801
Ensembl chr 7:110,481,392...110,488,345 		JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:57,371,349...57,371,453
Ensembl chr18:55,101,006...55,101,110 		JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:57,369,983...57,370,070
Ensembl chr18:55,099,640...55,099,727 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14633661 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14654083 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chr 3:177,056,588...177,106,424
Ensembl chr 3:156,638,769...156,687,504 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO RGD PMID:27018255 RGD:151665817 NCBI chr10:86,285,859...86,310,187
Ensembl chr10:85,785,537...85,809,866 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO RGD PMID:10202049 RGD:2317349 NCBI chr 9:2,031,011...2,033,345
Ensembl chr 9:1,944,017...1,946,345 		JBrowse link
B-lymphoblastic leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:21481795 RGD:11038814 NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 treatment ISO RGD PMID:26116659 RGD:11541128 NCBI chr17:71,020,884...71,037,779
Ensembl chr17:66,110,963...66,127,873 		JBrowse link
G Atf7ip activating transcription factor 7 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 4:171,117,122...171,202,871
Ensembl chr 4:169,385,872...169,471,650 		JBrowse link
G Bcl2l1 Bcl2-like 1 severity ISO RGD PMID:18216295 RGD:11531108 NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO BCR/ABL fusion RGD PMID:9310467 RGD:41404633 NCBI chr20:13,468,732...13,596,333
Ensembl chr20:13,471,668...13,597,016 		JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr20:4,728,282...4,737,286
Ensembl chr20:4,728,151...4,735,388 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24154679 NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:B cell (mouse) RGD PMID:23169640 RGD:11353783 NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment
susceptibility		 ISO DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human) RGD PMID:16618932 PMID:26104880 PMID:21622646 RGD:11251751, RGD:11057958, RGD:11251772 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 treatment ISO RGD PMID:21622646 PMID:16618932 RGD:11251772, RGD:11251751
G Crlf2 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr14:118,932...123,632
Ensembl chr14:103,939...108,642 		JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 treatment ISO DNA:polymorphisms: : RGD PMID:21225912 RGD:11353807 NCBI chr12:21,919,955...21,960,160
Ensembl chr12:16,806,207...16,846,422 		JBrowse link
G Dux4 double homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27019113 NCBI chr16:1,565,290...1,575,317
Ensembl chr16:1,558,766...1,568,565 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836 PMID:24413735 PMID:25807284 NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO protein:increased expression:B lymphoblast: RGD PMID:16894461 RGD:11041855 NCBI chr17:28,021,197...28,197,960
Ensembl chr17:27,815,702...27,992,700 		JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr13:90,056,565...90,082,450
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO mRNA,protein:increased expression:bone marrow: RGD PMID:8562934 RGD:11049466 NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr17:73,544,234...73,575,670
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr16:74,133,259...74,145,328
Ensembl chr16:67,430,578...67,442,730 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 disease_progression ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:24141364 PMID:22699455 RGD:11075072 NCBI chr14:90,468,696...90,556,522
Ensembl chr14:86,255,065...86,342,416 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:15368290 RGD:7241068 NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:25006123 PMID:21818355 PMID:20585039 RGD:11526159, RGD:11530020, RGD:11530030 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829 		JBrowse link
G Isx intestine-specific homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr19:13,222,834...13,245,506
Ensembl chr19:13,218,552...13,239,760 		JBrowse link
G Mga MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 3:127,300,558...127,396,694
Ensembl chr 3:106,851,140...106,941,043 		JBrowse link
G Myb MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:cds: RGD PMID:21853052 RGD:11532669 NCBI chr 1:17,759,309...17,793,306
Ensembl chr 1:15,939,761...15,973,057 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22120021 RGD:7207416 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Pax5 paired box 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24013638 PMID:30643249 NCBI chr 5:63,554,784...63,741,380
Ensembl chr 5:58,765,036...58,944,326 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha treatment ISO RGD PMID:22447844 RGD:11075097 NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Runx1 RUNX family transcription factor 1 onset ISO DNA:amplification
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15217836 PMID:24413735 PMID:21822204 RGD:6482828 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO protein:increased phosphorylation:bone marrow (human) RGD PMID:27018255 RGD:151665817 NCBI chr10:86,285,859...86,310,187
Ensembl chr10:85,785,537...85,809,866 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:26080840 PMID:26295973 PMID:28492532 NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:255,199,108...255,296,983
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
G Tdo2 tryptophan 2,3-dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr 2:169,567,656...169,585,586
Ensembl chr 2:167,269,579...167,287,511 		JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO RGD PMID:15488762 RGD:1549466 NCBI chr10:54,898,805...54,901,815
Ensembl chr10:54,400,065...54,403,042 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Tp53 tumor protein p53 disease_progression ISO DNA:mutations: : RGD PMID:22699455 RGD:11075072 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 More... NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
B-lymphoblastic leukemia/lymphoma MLL rearranged term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Mixed phenotype acute leukemia with t(v;11q23.3) ClinVar PMID:25741868 NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
B-lymphoblastic leukemia/lymphoma with BCR-ABL1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:22658618 PMID:25741868 PMID:28492532 NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 PMID:30093976 PMID:35534704 PMID:35957908 NCBI chr16:9,740,751...9,786,861
Ensembl chr16:9,736,630...9,780,616 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25085752 PMID:25741868 PMID:28492532 PMID:33471991 NCBI chr 1:186,096,312...186,120,284
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 More... NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
B-lymphoblastic leukemia/lymphoma with hyperdiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
B-lymphoblastic leukemia/lymphoma with hypodiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28546994 PMID:38473309 NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr19:34,487,491...34,547,311
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383K (human)		 ClinVar
CTD
OMIM
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040, RGD:8158051, RGD:8547518, RGD:8547515 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
Burkitt lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11482875 NCBI chr 7:116,248,571...116,272,917
Ensembl chr 7:114,368,276...114,396,071 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Bbc3 Bcl-2 binding component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chr 1:86,141,450...86,150,666
Ensembl chr 1:77,014,543...77,022,509 		JBrowse link
G Bcl2l2 Bcl2-like 2 ISO mRNA:increased expression:lymph node RGD PMID:28094768 RGD:14394511 NCBI chr15:32,326,686...32,337,834
Ensembl chr15:28,356,807...28,361,624 		JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Burkitt lymphoma ClinVar PMID:17262179 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31911673 More... NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304 		JBrowse link
G Btk Bruton tyrosine kinase ameliorates
treatment		 ISO Human cell line in a mouse model
mRNA:increased expression:multiple (human)		 RGD PMID:28474336 PMID:30546948 RGD:124713565, RGD:124715474 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Calr calreticulin treatment ISO human cells and recombinant protein in a mouse model
human cell line and recombinant protein in a mouse model		 RGD PMID:9858521 PMID:10961892 RGD:150521687, RGD:150521702 NCBI chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Cct6b chaperonin containing TCP1 subunit 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:68,150,111...68,198,932
Ensembl chr10:67,652,546...67,701,284 		JBrowse link
G Cd40 CD40 molecule treatment ISO human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd79b CD79b molecule treatment ISO human cells in mouse model RGD PMID:17374736 RGD:151665154 NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G Gna13 G protein subunit alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:94,837,271...94,870,290
Ensembl chr10:94,337,725...94,370,774 		JBrowse link
G Id3 inhibitor of DNA binding 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143595 PMID:23143597 NCBI chr 5:153,656,253...153,657,860
Ensembl chr 5:148,372,762...148,374,349 		JBrowse link
G Mir21 microRNA 21 treatment ISO RGD PMID:27991481 RGD:41404643 NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mir23b microRNA 23b treatment ISO RGD PMID:27991481 RGD:41404643 NCBI chr17:1,819,386...1,819,482
Ensembl chr17:1,813,667...1,813,763 		JBrowse link
G Mllt11 MLLT11, transcription factor 7 cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31587870 NCBI chr 2:185,484,791...185,493,961
Ensembl chr 2:182,795,790...182,797,199 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:113970
ClinVar Annotator: match by term: Burkitt lymphoma | ClinVar Annotator: match by term: MYC-related condition
DNA:mutations:exons:multiple (human)		 CTD
MouseDO
ClinVar
OMIM
RGD		 PMID:8220424 PMID:25741868 PMID:27993330 PMID:32934698 PMID:8220424 More... RGD:1601453, RGD:10059619 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Pbx1 PBX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chr13:82,811,664...83,121,447
Ensembl chr13:80,278,770...80,588,594 		JBrowse link
G Pc pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr18:76,680,997...76,700,905
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
Castleman disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15182131 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
central nervous system lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ameliorates ISO RGD PMID:28552327 RGD:124715478 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cd79b CD79b molecule treatment ISO RGD PMID:28619981 RGD:151665208 NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (human) RGD PMID:22628023 RGD:7364831 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor treatment ISO RGD PMID:28619981 RGD:151665208 NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
childhood acute lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctcf CCCTC-binding factor disease_progression ISO mRNA, protein:increased expression:bone marrow, blood (human) RGD PMID:24393203 RGD:151356757 NCBI chr19:50,431,478...50,481,013
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Tes testin LIM domain protein ISO DNA:hypermethylation:promoter RGD PMID:20573277 RGD:597621675 NCBI chr 4:46,331,257...46,369,782
Ensembl chr 4:45,365,285...45,403,829 		JBrowse link
chronic lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO protein:increased expression:peripheral blood mononuclear cell RGD PMID:27078856 RGD:13842476 NCBI chr 1:236,151,012...236,178,689
Ensembl chr 1:226,739,318...226,764,625 		JBrowse link
G Arhgap44 Rho GTPase activating protein 44 ISO mRNA:increased expression: (human) RGD PMID:36595475 RGD:401901275 NCBI chr10:50,154,724...50,322,027
Ensembl chr10:49,655,584...49,824,297 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:9450802 RGD:11522717 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:blood cells (human)
mRNA, protein:splice variants, alternative forms:exon 3 (human)
protein:decreased expression:blood, B cell (human)
protein:decreased expression:peripheral blood cells (human)		 RGD PMID:10753858 PMID:10090943 PMID:10329919 PMID:10516749 RGD:151665152, RGD:151665190, RGD:11531139, RGD:151665125 NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Cd86 CD86 molecule ISO DNA:hypermethylation (human) RGD PMID:23154584 RGD:11354975 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:21911837 RGD:11354912 NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO DNA:SNP: :rs872071 (human)
DNA:SNPs:3' utr:multiple
DNA:missense mutation:exon:p.L116R (human)		 RGD PMID:20090783 PMID:20731705 PMID:20123861 PMID:21791429 PMID:23897826 More... RGD:11530021, RGD:11530029, RGD:11530031, RGD:11526158, RGD:11526156, RGD:11530026 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:29658610 RGD:21081544 NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mir21 microRNA 21 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:29658610 RGD:21081544 NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:20956327 RGD:11340590 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26254371 RGD:11073982 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 susceptibility ISO protein:increased expression:B cell (human)
DNA:snp:cds:p.R620W (rs2476601) (human)		 RGD PMID:22569400 PMID:23287625 RGD:11535006, RGD:11533998 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:peripheral blood mononuclear cell RGD PMID:29658610 RGD:21081544 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar PMID:8118819 PMID:9242456 PMID:9662334 PMID:10432928 PMID:10589545 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Churg-Strauss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:serum (human) RGD PMID:21266446 RGD:11081158 NCBI chr12:26,745,972...26,750,924
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO RGD PMID:9853108 RGD:6218983 NCBI chr 1:267,325,297...267,557,037
Ensembl chr 1:257,321,742...257,551,473 		JBrowse link
G Il5 interleukin 5 severity ISO RGD PMID:22772323 RGD:6892720 NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22772323 RGD:6892720 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Vtn vitronectin ISO RGD PMID:12126637 RGD:1580817 NCBI chr10:63,892,782...63,895,862
Ensembl chr10:63,394,719...63,397,810 		JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,231,558...55,236,786
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,104,040...55,119,280
Ensembl chr10:54,605,323...54,619,472 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,456,923...55,469,239
Ensembl chr10:54,958,271...54,970,542 		JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,361,898...54,373,776
Ensembl chr10:53,863,060...53,874,938 		JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,391,331...54,400,648
Ensembl chr10:53,892,466...53,901,812 		JBrowse link
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,329,224...54,353,167
Ensembl chr10:53,831,264...53,854,328 		JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,274,299...55,278,323
Ensembl chr10:54,776,024...54,779,631 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,320,082...55,333,294
Ensembl chr10:54,821,438...54,834,617 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,817,473...54,823,708
Ensembl chr10:54,318,701...54,324,933 		JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,243,116...54,249,675
Ensembl chr10:53,745,142...53,750,837 		JBrowse link
G Bacc1 BPTF associated chromatin complex component 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,450,648...55,453,409
Ensembl chr10:54,951,991...54,956,601 		JBrowse link
G Bcl6b BCL6B, transcription repressor ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,439,566...55,444,631
Ensembl chr10:54,940,909...54,945,974 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,259,349...54,261,203
Ensembl chr10:53,758,093...53,762,632 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:11472359 PMID:18241230 PMID:25741868 PMID:28492532 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 1:190,417,853...190,424,494
Ensembl chr 1:180,987,286...180,993,975 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:9150729 PMID:9746782 PMID:15358621 PMID:25741868 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd68 Cd68 molecule ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,381,815...54,383,697 		JBrowse link
G Cd81 Cd81 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:207,665,274...207,681,094
Ensembl chr 1:198,241,484...198,251,660 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,562,437...54,588,842
Ensembl chr10:54,063,629...54,090,047 		JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,999,943...55,015,137
Ensembl chr10:54,501,093...54,516,345 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,188,670...55,190,871
Ensembl chr10:54,689,987...54,692,171 		JBrowse link
G Clec10a C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,374,914...55,379,110
Ensembl chr10:54,876,260...54,880,435 		JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,521,338...54,546,569
Ensembl chr10:54,022,852...54,044,849 		JBrowse link
G Cr2 complement C3d receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr13:109,207,034...109,244,980
Ensembl chr13:106,685,413...106,716,235 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,212,537...54,234,146
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,203,047...55,212,469
Ensembl chr10:54,704,148...54,713,781 		JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,612,230...54,616,375
Ensembl chr10:54,113,438...54,117,911 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human) RGD PMID:26476407 RGD:11251730 NCBI chr17:79,684,988...79,718,399
Ensembl chr17:74,776,935...74,809,186 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,239,397...55,267,780
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,641,450...54,766,502
Ensembl chr10:54,142,737...54,267,298 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,222,245...55,231,506
Ensembl chr10:54,723,411...54,732,820 		JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,773,282...54,780,727
Ensembl chr10:54,274,506...54,280,471 		JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,883,093...54,888,602
Ensembl chr10:54,384,347...54,389,858 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,138,821...55,143,272
Ensembl chr10:54,640,024...54,644,656 		JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,191,223...55,202,949
Ensembl chr10:54,692,530...54,704,923 		JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:57,428,259...57,433,468
Ensembl chr10:56,932,297...56,934,906 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO protein:decreased expression:blood, monocyte RGD PMID:17900300 RGD:5147988 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,015,232...55,020,773
Ensembl chr10:54,517,077...54,522,062 		JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,849,345...54,869,713
Ensembl chr10:54,350,131...54,370,964 		JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,213,465...55,216,787
Ensembl chr10:54,714,198...54,717,765 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,136,043...55,139,106
Ensembl chr10:54,637,455...54,640,650 		JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,453,753...54,478,639
Ensembl chr10:53,959,010...53,974,067 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,322,971...54,327,776
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
G Icos inducible T-cell co-stimulator ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 NCBI chr 9:69,862,042...69,900,864
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:11590134 PMID:15229184 PMID:20529958 PMID:25741868 PMID:28993958 NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:90,468,696...90,556,522
Ensembl chr14:86,255,065...86,342,416 		JBrowse link
G Il21 interleukin 21 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IL21 DEFICIENCY		 CTD
ClinVar		 PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
G Il21r interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522 		JBrowse link
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,546,638...54,555,209
Ensembl chr10:54,047,825...54,054,174 		JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,101,292...55,103,455
Ensembl chr10:54,599,754...54,604,760 		JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,619,520...54,641,014
Ensembl chr10:54,121,848...54,130,794 		JBrowse link
G Manba mannosidase beta ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr 2:226,583,968...226,676,520
Ensembl chr 2:223,910,432...224,002,983 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) RGD PMID:10652157 RGD:4889436 NCBI chr 1:237,429,873...237,465,567 JBrowse link
G Mir195 microRNA 195 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,450,495...55,450,581
Ensembl chr10:54,951,838...54,951,924 		JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,873,467...54,880,536
Ensembl chr10:54,374,725...54,380,447 		JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:217,331,274...217,351,934
Ensembl chr 1:207,906,374...207,918,512 		JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,588,304...54,617,715
Ensembl chr10:54,117,163...54,119,494 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,123,471...55,135,971
Ensembl chr10:54,625,642...54,637,258 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency		 CTD
ClinVar		 PMID:16199547 PMID:25741868 PMID:26279205 PMID:28492532 PMID:29477724 More... NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency		 CTD
MouseDO
ClinVar		 PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More... NCBI chr 1:255,106,010...255,114,649
Ensembl chr 1:245,165,950...245,173,213 		JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,042,175...55,056,578
Ensembl chr10:54,544,588...54,558,434 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,299,002...54,313,804
Ensembl chr10:53,805,535...53,814,431 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,217,351...55,221,471
Ensembl chr10:54,717,724...54,722,782 		JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,064,349...55,070,120
Ensembl chr10:54,566,873...54,578,709 		JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,951,162...54,977,179
Ensembl chr10:54,452,441...54,478,455 		JBrowse link
G Psd pleckstrin and Sec7 domain containing ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More... NCBI chr 1:255,114,703...255,130,151
Ensembl chr 1:245,173,279...245,189,356 		JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 More... NCBI chr 3:108,357,399...108,367,186
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,453,561...55,455,279
Ensembl chr10:54,951,991...54,956,601 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms (human) RGD PMID:10361244 RGD:5147864 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Sat2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,839,531...54,841,651
Ensembl chr10:54,340,372...54,343,224 		JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,889,445...54,898,359
Ensembl chr10:54,390,694...54,399,593 		JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,831,716...54,849,162
Ensembl chr10:54,332,941...54,351,057 		JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:57,364,806...57,389,500
Ensembl chr10:56,866,249...56,890,945 		JBrowse link
G Slc16a11 solute carrier family 16, member 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,427,773...55,431,678
Ensembl chr10:54,927,725...54,942,915 		JBrowse link
G Slc16a13 solute carrier family 16, member 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,424,633...55,436,555
Ensembl chr10:54,926,760...54,937,788 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,164,721...55,170,289
Ensembl chr10:54,666,015...54,671,565 		JBrowse link
G Slc35g3 solute carrier family 35, member G3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,978,450...54,980,505
Ensembl chr10:54,479,770...54,481,748 		JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,871,793...54,873,497
Ensembl chr10:54,372,403...54,376,591 		JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,040,178...55,041,479
Ensembl chr10:54,541,471...54,546,131 		JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,035,892...55,037,790
Ensembl chr10:54,537,174...54,539,058 		JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:57,450,712...57,479,121
Ensembl chr10:56,952,167...56,980,572 		JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,022,625...55,025,676
Ensembl chr10:54,523,585...54,525,990 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,268,218...54,273,520
Ensembl chr10:53,771,784...53,774,676 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,056,959...55,058,869
Ensembl chr10:54,555,360...54,560,120 		JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,617,554...54,619,309
Ensembl chr10:54,118,752...54,120,447 		JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,098,518...55,100,463
Ensembl chr10:54,599,800...54,601,790 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset		 CTD
ClinVar		 PMID:8072530 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 More... NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive		 CTD
ClinVar		 PMID:28492532 NCBI chr 7:115,616,139...115,618,647
Ensembl chr 7:113,736,055...113,738,517 		JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chr10:54,902,616...54,912,628
Ensembl chr10:54,403,870...54,413,213 		JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,898,805...54,901,815
Ensembl chr10:54,400,065...54,403,042 		JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,070,362...55,084,383
Ensembl chr10:54,571,117...54,579,940 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,544,406...54,545,992
Ensembl chr10:54,045,537...54,047,331 		JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32499645 More... NCBI chr 6:12,912,822...13,015,374
Ensembl chr 6:7,159,061...7,261,892 		JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,292,423...54,296,657
Ensembl chr10:53,793,923...53,797,809 		JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,780,873...54,797,919
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:57,415,935...57,428,348
Ensembl chr10:56,917,121...56,929,770 		JBrowse link
G Ybx2 Y box binding protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:55,158,420...55,164,077
Ensembl chr10:54,659,719...54,665,371 		JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,979,421...55,000,215
Ensembl chr10:54,485,071...54,501,492 		JBrowse link
common variable immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi2 abl-interactor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,321,072...69,490,630
Ensembl chr 9:61,827,139...61,905,699 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,685,942...68,801,353
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:67,929,069...68,024,993
Ensembl chr 9:60,434,925...60,530,806 		JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,996,419...69,046,480
Ensembl chr 9:61,506,956...61,550,462 		JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,205,759...68,299,218
Ensembl chr 9:60,711,715...60,802,777 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:60,185,452...60,237,034 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,249,841...69,299,146
Ensembl chr 9:61,755,790...61,805,123 		JBrowse link
G Fam117b family with sequence similarity 117, member B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,834,334...68,902,543
Ensembl chr 9:61,340,249...61,408,483 		JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:67,809,731...67,837,793
Ensembl chr 9:60,315,582...60,343,648 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,425,538...68,428,357
Ensembl chr 9:60,930,875...60,935,781 		JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,906,148...68,964,078
Ensembl chr 9:61,412,091...61,470,134 		JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 OMIM
ClinVar		 PMID:9536098 PMID:11343122 PMID:11956294 PMID:12353035 PMID:12577056 More... NCBI chr 9:69,862,042...69,900,864
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,063,867...68,103,050
Ensembl chr 9:60,569,734...60,611,797 		JBrowse link
G Nbeal1 neurobeachin-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,069,326...69,237,932
Ensembl chr 9:61,575,356...61,736,750 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:67,623,417...67,633,629
Ensembl chr 9:60,129,154...60,139,446 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:24140114 PMID:28492532 NCBI chr 1:255,106,010...255,114,649
Ensembl chr 1:245,165,950...245,173,213 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,614,992...68,638,911
Ensembl chr 9:61,120,929...61,144,810 		JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,397,272...69,484,174
Ensembl chr 9:61,907,758...61,961,209 		JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:67,908,277...67,927,224
Ensembl chr 9:60,414,182...60,433,084 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,572,901...68,602,803
Ensembl chr 9:61,077,435...61,108,761 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,027,481...68,066,731
Ensembl chr 9:60,535,233...60,572,567 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:67,842,680...67,909,786
Ensembl chr 9:60,350,012...60,413,996 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,969,547...68,996,811
Ensembl chr 9:61,475,517...61,502,469 		JBrowse link
common variable immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16303288 PMID:17576681 PMID:22013103 More... NCBI chr 1:255,106,010...255,114,649
Ensembl chr 1:245,165,950...245,173,213 		JBrowse link
G Psd pleckstrin and Sec7 domain containing ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 ClinVar PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More... NCBI chr 1:255,114,703...255,130,151
Ensembl chr 1:245,173,279...245,189,356 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:166,067,450...166,230,733
Ensembl chr 1:156,656,013...156,818,363 		JBrowse link
common variable immunodeficiency 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21 interleukin 21 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 11 OMIM
ClinVar		 PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
common variable immunodeficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 | ClinVar Annotator: match by term: NFKB1-related condition OMIM
ClinVar		 PMID:9383370 PMID:11583829 PMID:16199547 PMID:16639407 PMID:25741868 More... NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 ClinVar NCBI chr 1:94,808,459...94,824,726
Ensembl chr 1:85,680,861...85,690,447 		JBrowse link
common variable immunodeficiency 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: IKZF1-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 OMIM
ClinVar		 PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:27993330 More... NCBI chr14:90,468,696...90,556,522
Ensembl chr14:86,255,065...86,342,416 		JBrowse link
common variable immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid4b AT-rich interaction domain 4B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr17:55,833,908...55,958,382
Ensembl chr17:51,138,535...51,262,906 		JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr17:56,030,409...56,072,952
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr19:71,293,066...71,295,668
Ensembl chr19:54,395,742...54,399,407 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr17:55,958,750...55,982,762
Ensembl chr17:51,263,263...51,276,220 		JBrowse link
G Gng4 G protein subunit gamma 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr17:93,432,791...93,481,709
Ensembl chr17:86,449,022...86,495,254 		JBrowse link
G Irf2bp2 interferon regulatory factor 2 binding protein 2 ISO ClinVar Annotator: match by term: IRF2BP2-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27016798 PMID:28492532 PMID:35538558 More... NCBI chr19:71,456,689...71,462,368
Ensembl chr19:54,560,128...54,566,642 		JBrowse link
G Kcnk1 potassium two pore domain channel subfamily K member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr19:70,856,985...70,895,053
Ensembl chr19:53,959,657...53,997,724 		JBrowse link
G LOC120098679 small nucleolar RNA SNORA14 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr19:71,831,457...71,831,590
Ensembl chr19:54,934,225...54,934,358 		JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr17:93,225,509...93,427,650
Ensembl chr17:86,241,384...86,443,480 		JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr17:93,069,013...93,142,416
Ensembl chr17:86,085,077...86,158,267 		JBrowse link
G Rbm34 RNA binding motif protein 34 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr19:71,832,189...71,854,038
Ensembl chr19:54,936,531...54,956,715 		JBrowse link
G Slc35f3 solute carrier family 35, member F3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr19:71,000,144...71,270,829
Ensembl chr19:54,103,120...54,372,839 		JBrowse link
G Tarbp1 TAR (HIV-1) RNA binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr19:71,295,588...71,346,595
Ensembl chr19:54,398,253...54,449,261 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr17:55,983,627...56,031,578
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
G Tomm20 translocase of outer mitochondrial membrane 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr19:71,822,429...71,832,420
Ensembl chr19:54,923,402...54,935,198 		JBrowse link
Common Variable Immunodeficiency 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ruvbl1 RuvB-like AAA ATPase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 ClinVar PMID:25741868 PMID:28782633 NCBI chr 4:122,489,754...122,524,666
Ensembl chr 4:120,932,417...121,029,384 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 OMIM
ClinVar		 PMID:25741868 PMID:28782633 NCBI chr 4:122,530,785...122,545,141
Ensembl chr 4:120,960,626...120,987,925 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Decreased circulating antibody concentration ClinVar PMID:25346280 PMID:25741868 PMID:28492532 PMID:30523342 PMID:30791107 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
common variable immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,427,789...46,448,449
Ensembl chr10:45,908,524...45,949,281 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,844,411...45,865,853
Ensembl chr10:45,343,395...45,366,331 		JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,705,157...45,721,282
Ensembl chr10:45,197,441...45,221,026 		JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,685,410...46,698,580
Ensembl chr10:46,186,691...46,196,008 		JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:190,417,853...190,424,494
Ensembl chr 1:180,987,286...180,993,975 		JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,117,664...45,151,868
Ensembl chr10:44,618,115...44,641,597 		JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:109,207,034...109,244,980
Ensembl chr13:106,685,413...106,716,235 		JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,620,045...45,698,902
Ensembl chr10:45,157,354...45,199,369 		JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,755,072...45,769,493
Ensembl chr10:45,255,507...45,269,969 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,697,238...46,759,128
Ensembl chr10:46,197,785...46,259,642 		JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,862,983...46,887,499
Ensembl chr10:46,363,051...46,388,019 		JBrowse link
G Fbxw10 F-box and WD repeat domain containing 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:48,012,555...48,051,136
Ensembl chr10:47,486,297...47,551,907 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,088,164...45,107,581
Ensembl chr10:44,588,624...44,607,769 		JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,893,566...45,907,547
Ensembl chr10:45,394,032...45,407,970 		JBrowse link
G Gid4 GID complex subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,721,055...45,747,132
Ensembl chr10:45,245,754...45,247,621
Ensembl chr10:45,245,754...45,247,621 		JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,798,423...46,851,524
Ensembl chr10:46,332,909...46,352,056 		JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,878,936...45,893,609
Ensembl chr10:45,379,515...45,394,094 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,669,721...46,675,768
Ensembl chr10:46,170,167...46,176,267 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,250,229...45,264,988
Ensembl chr10:44,750,698...44,765,464 		JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,666,552...46,669,613
Ensembl chr10:46,167,217...46,170,155 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,907,576...45,913,658
Ensembl chr10:45,408,082...45,414,144 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:44,953,472...45,073,388
Ensembl chr10:44,453,929...44,569,118 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,776,907...45,835,473
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,151,902...45,178,687
Ensembl chr10:44,652,975...44,679,150 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,275,434...45,349,651
Ensembl chr10:44,775,911...44,850,013 		JBrowse link
G Pld6 phospholipase D family, member 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,078,081...45,080,732
Ensembl chr10:44,577,675...44,581,077 		JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,910,282...46,945,401
Ensembl chr10:46,410,835...46,445,849 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,412,748...45,507,747
Ensembl chr10:44,947,909...45,008,232 		JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,265,975...45,275,279
Ensembl chr10:44,766,455...44,768,186 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,620,602...46,655,745
Ensembl chr10:46,121,148...46,126,699 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,968,959...45,990,341
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,533,580...46,590,128
Ensembl chr10:46,034,122...46,087,637 		JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,851,527...46,898,460
Ensembl chr10:46,352,061...46,399,811 		JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,957,146...45,968,388
Ensembl chr10:45,457,605...45,468,876 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,507,152...45,529,164
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 OMIM
ClinVar		 PMID:8072530 PMID:9536098 PMID:16007086 PMID:16007087 PMID:16199547 More... NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:115,616,139...115,618,647
Ensembl chr 7:113,736,055...113,738,517 		JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,535,548...45,657,528
Ensembl chr10:45,036,035...45,158,032 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,915,625...45,956,856
Ensembl chr10:45,419,217...45,457,559 		JBrowse link
G Tvp23b trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:48,053,005...48,067,326
Ensembl chr10:47,553,831...47,565,203 		JBrowse link
common variable immunodeficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: CD19-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 3 OMIM
ClinVar		 PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 More... NCBI chr 1:190,417,853...190,424,494
Ensembl chr 1:180,987,286...180,993,975 		JBrowse link
common variable immunodeficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:116,248,571...116,272,917
Ensembl chr 7:114,368,276...114,396,071 		JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,265,816...115,308,931
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,526,537...115,539,155
Ensembl chr 7:113,644,639...113,659,050 		JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,628,117...115,639,401
Ensembl chr 7:113,747,516...113,764,258 		JBrowse link
G Chadl chondroadherin-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:115,085,447...115,097,565
Ensembl chr 7:113,210,748...113,217,272 		JBrowse link
G Csdc2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,332,134...115,346,599
Ensembl chr 7:113,451,998...113,466,463 		JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:116,186,729...116,204,290
Ensembl chr 7:114,306,685...114,324,298 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,401,613...115,422,974
Ensembl chr 7:113,519,980...113,542,845 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:115,066,427...115,087,625
Ensembl chr 7:113,186,370...113,207,489 		JBrowse link
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,470,256...115,523,618
Ensembl chr 7:113,590,142...113,643,511 		JBrowse link
G Mir33 microRNA 33 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,593,952...115,594,020
Ensembl chr 7:113,713,855...113,713,923 		JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,726,438...115,735,494
Ensembl chr 7:113,846,374...113,855,315 		JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:115,746,460...115,750,317
Ensembl chr 7:113,866,382...113,870,239 		JBrowse link
G Nfam1 NFAT activating protein with ITAM motif 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:116,019,383...116,055,628
Ensembl chr 7:114,139,345...114,175,442 		JBrowse link
G Pheta2 PH domain containing endocytic trafficking adaptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:115,735,499...115,741,988
Ensembl chr 7:113,857,249...113,861,871 		JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,258,609...115,265,174
Ensembl chr 7:113,378,471...113,385,460 		JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,346,767...115,357,137
Ensembl chr 7:113,466,632...113,477,022 		JBrowse link
G Poldip3 DNA polymerase delta interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:116,154,892...116,183,319
Ensembl chr 7:114,275,085...114,303,271 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,309,571...115,319,881
Ensembl chr 7:113,429,451...113,439,778 		JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,104,820...115,130,564
Ensembl chr 7:113,224,703...113,250,438 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,870,893...114,881,194
Ensembl chr 7:112,990,835...113,001,051 		JBrowse link
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:116,142,976...116,152,874
Ensembl chr 7:114,256,472...114,272,817 		JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,659,414...115,691,173
Ensembl chr 7:113,783,095...113,811,087 		JBrowse link
G Serhl2 serine hydrolase-like 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:116,126,085...116,146,345
Ensembl chr 7:114,246,056...114,272,781 		JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,602,503...115,607,953
Ensembl chr 7:113,722,408...113,727,858 		JBrowse link
G Smdt1 single-pass membrane protein with aspartate-rich tail 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:115,742,240...115,745,323
Ensembl chr 7:113,860,611...113,865,226 		JBrowse link
G Smim45 small integral membrane protein 45 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,649,223...115,654,038
Ensembl chr 7:113,765,468...113,773,339 		JBrowse link
G Snu13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,445,415...115,451,008
Ensembl chr 7:113,565,295...113,570,872
Ensembl chr 1:113,565,295...113,570,872 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,542,774...115,600,945
Ensembl chr 7:113,663,202...113,720,848 		JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:115,833,523...116,009,790
Ensembl chr 7:113,954,089...114,051,839 		JBrowse link
G Tef TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,197,180...115,221,930
Ensembl chr 7:113,317,283...113,341,783 		JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19666484 PMID:21041452 PMID:25741868 More... NCBI chr 7:115,616,139...115,618,647
Ensembl chr 7:113,736,055...113,738,517 		JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,242,843...115,251,563
Ensembl chr 7:113,361,148...113,372,688 		JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,694,910...115,710,912
Ensembl chr 7:113,814,992...113,831,333 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,806,398...114,858,934
Ensembl chr 7:112,926,248...112,974,878 		JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,423,026...115,443,884
Ensembl chr 7:113,543,057...113,563,762 		JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:115,142,245...115,190,513
Ensembl chr 7:113,262,165...113,310,399 		JBrowse link
common variable immunodeficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ms4a1 membrane spanning 4-domains A1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 | ClinVar Annotator: match by term: MS4A1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:217,331,274...217,351,934
Ensembl chr 1:207,906,374...207,918,512 		JBrowse link
common variable immunodeficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd81 Cd81 molecule ISO ClinVar Annotator: match by term: CD81-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 6 OMIM
ClinVar		 PMID:20237408 PMID:25741868 PMID:28492532 NCBI chr 1:207,665,274...207,681,094
Ensembl chr 1:198,241,484...198,251,660 		JBrowse link
common variable immunodeficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C13h1orf116 similar to human chromosome 1 open reading frame 116 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:44,739,716...44,753,695
Ensembl chr13:42,188,609...42,201,426 		JBrowse link
G C4bpa complement component 4 binding protein, alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:44,627,959...44,663,552
Ensembl chr13:42,075,717...42,111,205 		JBrowse link
G C4bpb complement component 4 binding protein, beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:44,673,064...44,683,781
Ensembl chr13:42,120,798...42,131,817 		JBrowse link
G Cd34 CD34 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:109,008,786...109,029,317
Ensembl chr13:106,480,043...106,499,832 		JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:44,409,574...44,438,913
Ensembl chr13:41,857,395...41,885,831 		JBrowse link
G Cr1l complement C3b/C4b receptor 1 like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:109,138,132...109,189,068
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cr2 complement C3d receptor 2 susceptibility ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24029428 More... NCBI chr13:109,207,034...109,244,980
Ensembl chr13:106,685,413...106,716,235 		JBrowse link
G Fcamr Fc alpha and mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:44,825,931...44,839,938
Ensembl chr13:42,273,628...42,287,113 		JBrowse link
G Fcmr Fc mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:44,889,628...44,903,926
Ensembl chr13:42,337,414...42,351,653 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:44,949,989...44,958,714
Ensembl chr13:42,399,138...42,405,473 		JBrowse link
G Il20 interleukin 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:44,933,249...44,936,893
Ensembl chr13:42,380,981...42,384,625 		JBrowse link
G Il24 interleukin 24 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:44,905,362...44,910,760
Ensembl chr13:42,353,090...42,358,487 		JBrowse link
G Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:44,683,499...44,727,135
Ensembl chr13:42,147,478...42,174,699 		JBrowse link
G Pigr polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:44,851,001...44,879,143
Ensembl chr13:42,298,914...42,326,875 		JBrowse link
G Plxna2 plexin A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:108,683,155...108,888,336
Ensembl chr13:106,163,103...106,358,979 		JBrowse link
G Yod1 YOD1 deubiquitinase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:44,727,319...44,733,933
Ensembl chr13:42,174,820...42,177,205 		JBrowse link
common variable immunodeficiency 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608502 PMID:22721650 More... NCBI chr 2:173,919,330...174,500,536
Ensembl chr 2:171,621,507...172,202,724 		JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:25640679 PMID:26206937 PMID:26768763 PMID:28492532 NCBI chr 2:174,244,538...174,247,620
Ensembl chr 2:171,946,573...171,949,655 		JBrowse link
diffuse large B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21325069 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Alk ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr 6:28,631,431...29,351,321
Ensembl chr 6:22,880,625...23,598,034 		JBrowse link
G B2m beta-2 microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7688627 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bcas2 BCAS2, pre-mRNA processing factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 2:193,381,000...193,388,881
Ensembl chr 2:190,692,461...190,700,389 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bcl2l2 Bcl2-like 2 disease_progression ISO RGD PMID:28094768 RGD:14394511 NCBI chr15:32,326,686...32,337,834
Ensembl chr15:28,356,807...28,361,624 		JBrowse link
G Bcl6 BCL6, transcription repressor disease_progression ISO diffuse large B-cell lymphoma RGD PMID:11821949 PMID:15701085 RGD:1600111, RGD:11530023 NCBI chr11:90,358,753...90,382,049
Ensembl chr11:76,854,090...76,877,389 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9150172 PMID:18489799 PMID:20104584 PMID:21138478 PMID:22798144 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:24869598 PMID:25082755 PMID:25189416 PMID:25741868 PMID:27199251 More... NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO DNA:missense mutations:exons:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25049379 PMID:26192916 PMID:18323416 RGD:11100036 NCBI chr12:18,735,088...18,872,045
Ensembl chr12:13,621,087...13,758,112 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccdc86 coiled-coil domain containing 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23828858 NCBI chr 1:207,590,167...207,596,547
Ensembl chr 1:207,590,168...207,596,544 		JBrowse link
G Cd22 CD22 molecule treatment ISO RGD PMID:25708834 RGD:151665133 NCBI chr 1:95,243,785...95,270,430
Ensembl chr 1:86,117,459...86,132,322 		JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) RGD PMID:20473910 RGD:5490541 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:25049379 NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:80,493,581...80,497,935 		JBrowse link
G Cd79b CD79b molecule severity
treatment		 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
DNA:missense mutation:multiple, exon 5 (human)
DNA:missense mutation:multiple, exon 5-6 (human)
DNA:mutation:multiple (human)		 CTD
ClinVar
RGD		 PMID:11160144 PMID:21173233 PMID:31402495 PMID:31609782 PMID:25347427 More... RGD:151665203, RGD:11075852, RGD:151665133, RGD:151665120 NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Cdk1 cyclin-dependent kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chr20:19,265,252...19,280,456
Ensembl chr20:19,266,248...19,281,408 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21325069 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:16199547 PMID:21876083 PMID:24713400 PMID:28492532 NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Cltc clathrin heavy chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr10:72,014,984...72,073,308
Ensembl chr10:71,517,663...71,573,737 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:24755471 PMID:28481359 PMID:30239046 PMID:33323405 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dicer1 dicer 1 ribonuclease III disease_progression ISO RGD PMID:25195038 RGD:149735347 NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 More... NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:35053500 NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20081860 PMID:28438623 RGD:126779596 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fcgr2a Fc gamma receptor 2A disease_progression ISO DNA:SNP: :rs1801274 (human) RGD PMID:27282998 RGD:11344967 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Foxo1 forkhead box O1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:26314988 PMID:29721381 PMID:35079069 NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:136,312,168...136,387,790 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 treatment ISO RGD PMID:20303013 RGD:10450835 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP: :(rs1695)(human) RGD PMID:19338043 RGD:8547939 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 severity ISO DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO proteion:increased expression:serum: RGD PMID:12598355 RGD:11354982 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il21r interleukin 21 receptor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522 		JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 6:63,797,189...64,696,906
Ensembl chr 6:58,070,283...58,969,840 		JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO RGD PMID:15701085 RGD:11530023 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804550 NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Malt1 MALT1 paracaspase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr18:61,212,290...61,266,272
Ensembl chr18:58,942,299...58,994,260 		JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:20919850 RGD:6483541 NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) RGD PMID:17712558 RGD:6893517 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor severity ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
DNA:missense mutation:L265P (human)
DNA:mutation:L265P, L265S (human)		 CTD
ClinVar
RGD		 PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:25049379 More... RGD:151665203, RGD:11075852, RGD:151665120 NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9590180 PMID:16415040 PMID:28492532 NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:29,459,457...29,494,150 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:79,372,119...79,407,360 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:21390130 PMID:22158541 PMID:23292937 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nfkbia NFKB inhibitor alpha no_association ISO RGD PMID:15198731 RGD:2298905 NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Nom1 nucleolar protein with MIF4G domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr 4:6,562,931...6,586,093
Ensembl chr 4:5,892,909...5,909,709 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr10:13,610,000...13,687,226
Ensembl chr10:13,105,498...13,174,623 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 8:108,474,017...108,579,140
Ensembl chr 8:99,594,644...99,699,663 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 5:165,377,994...165,426,620
Ensembl chr 5:160,094,952...160,120,930 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar NCBI chr12:15,790,478...15,814,790
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
G Prdm1 PR/SET domain 1 disease_progression ISO RGD PMID:22321048 RGD:150530470 NCBI chr20:49,542,465...49,564,088
Ensembl chr20:47,959,858...47,981,488 		JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 1:269,987,691...270,000,111
Ensembl chr 1:260,001,637...260,014,111 		JBrowse link
G Prdx4 peroxiredoxin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr  X:43,876,374...43,893,815
Ensembl chr  X:40,026,651...40,044,066 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31123343 NCBI chr15:31,938,927...31,948,318
Ensembl chr15:27,968,910...27,978,296 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9467011 PMID:10468583 PMID:10698513 PMID:10866302 PMID:10866658 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27150054 NCBI chr 7:115,104,820...115,130,564
Ensembl chr 7:113,224,703...113,250,438 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chr10:71,817,794...71,865,211
Ensembl chr10:71,323,777...71,367,908 		JBrowse link
G Sec31a SEC31 homolog A, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273 		JBrowse link
G Sf3a1 splicing factor 3A subunit 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:22037554 PMID:26498691 PMID:33563892 NCBI chr14:83,254,971...83,275,720
Ensembl chr14:79,031,394...79,052,144 		JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18850583 NCBI chr 2:59,888,406...59,916,471
Ensembl chr 2:58,161,229...58,189,338 		JBrowse link
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 ISS MouseDO NCBI chr10:92,261,516...92,362,185
Ensembl chr10:91,761,807...91,862,488 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:19734449 PMID:23296022 PMID:26336985 PMID:28302137 PMID:29625055 NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sod3 superoxide dismutase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr14:62,822,865...62,828,602
Ensembl chr14:58,609,958...58,615,990 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:21690253 PMID:22591296 PMID:22859607 PMID:23926297 PMID:25873174 More... NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Syk spleen associated tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33782605 NCBI chr17:12,756,493...12,830,927
Ensembl chr17:12,604,619...12,661,410 		JBrowse link
G Tbl1xr1 TBL1X/Y related 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9450851 PMID:16492805 PMID:21156281 PMID:21156282 PMID:25741868 More... NCBI chr 2:106,718,811...106,857,989
Ensembl chr 2:104,801,721...104,929,055 		JBrowse link
G Tp53 tumor protein p53 ISS
ISO		 ClinVar Annotator: match by term: Diffuse large B cell lymphoma MouseDO
ClinVar		 PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Txnip thioredoxin interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 2:186,781,933...186,785,736
Ensembl chr 2:184,092,991...184,096,886 		JBrowse link
Enteropathy-Associated T-Cell Lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO DNA:mutations:multiple (human) RGD PMID:27600764 RGD:150429643 NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chr10:86,205,148...86,276,178
Ensembl chr10:85,705,670...85,775,668 		JBrowse link
extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: MALT lymphoma OMIM
ClinVar		 PMID:9989495 PMID:10380920 PMID:10408400 NCBI chr 2:237,501,181...237,510,821
Ensembl chr 2:234,840,858...234,850,523 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 treatment ISO DNA:gene fusion: (human) RGD PMID:21465313 RGD:153305955 NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO protein:increased expression: mucosa-associated lymphoid tissue (human) RGD PMID:27544389 RGD:152023632 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G RT1-Ba RT1 class II, locus Ba treatment ISO associated with Helicobacter Infections; DNA:polymorphim, haplotype: :HLA-DQA1*0103 (human) RGD PMID:16234023 RGD:5147794 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
follicular lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chr  X:157,231,243...157,238,323
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chr16:25,384,254...25,408,388
Ensembl chr16:20,617,518...20,641,745 		JBrowse link
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: Follicular lymphoma ClinVar PMID:9989495 NCBI chr 2:237,501,181...237,510,821
Ensembl chr 2:234,840,858...234,850,523 		JBrowse link
G Bcl2 BCL2, apoptosis regulator susceptibility ISO DNA:translocation: ;t(14;18)(q32;q21)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:3287162 PMID:12855623 PMID:16671111 PMID:3287162 RGD:1599473, RGD:734639 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) RGD PMID:20473910 RGD:5490541 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO human gene in a mouse model RGD PMID:25582824 RGD:11344981 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd79b CD79b molecule treatment ISO human cells in mouse model RGD PMID:17374736 RGD:151665154 NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Ebf1 EBF transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr10:29,597,221...29,990,571
Ensembl chr10:29,099,933...29,487,665 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Irf4 interferon regulatory factor 4 severity ISO RGD PMID:17296585 RGD:11530032 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:25526675 PMID:8417785 RGD:1598985 NCBI chr13:23,374,101...23,408,779
Ensembl chr13:22,862,117...22,894,108 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Rarres1 retinoic acid receptor responder 1 ISS OMIM:151430 MouseDO NCBI chr 2:154,059,761...154,094,021
Ensembl chr 2:151,749,715...151,783,978 		JBrowse link
G Rragc Ras-related GTP binding C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chr 5:141,433,014...141,452,546
Ensembl chr 5:136,148,276...136,167,767 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536 		JBrowse link
gastrointestinal lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D disease_progression ISO RGD PMID:26722499 RGD:11553660 NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
Granuloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cma1 chymase 1 IEP mRNA:increased expression:tumor (rat) RGD PMID:15723097 RGD:5128499 NCBI chr15:33,387,351...33,390,133
Ensembl chr15:29,417,451...29,420,233 		JBrowse link
G Il4 interleukin 4 treatment IDA RGD PMID:24372369 RGD:10402806 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Mif macrophage migration inhibitory factor IEP associated with Kidney Diseases RGD PMID:11126199 RGD:1642009 NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO RGD PMID:20679225 RGD:5508736 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
Granuloma, Foreign-Body term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr9 toll-like receptor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19797157 NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
Granuloma, Plasma Cell term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20979472 PMID:21030459 PMID:22920921 NCBI chr 6:28,631,431...29,351,321
Ensembl chr 6:22,880,625...23,598,034 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21030459 NCBI chr20:26,984,520...27,036,573
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
hairy cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:8843970 RGD:11353776 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO RGD PMID:9613675 RGD:11522762 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24241536 NCBI chr 8:73,578,747...73,650,184
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
Hodgkin's lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:7621881 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:7621881 PMID:8656679 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd68 Cd68 molecule severity ISO associated with Epstein-Barr Virus Infections;protein:increased expression:tumor(human)
protein:increased expression:tumor (human)		 RGD PMID:21071500 PMID:23045593 RGD:40925944, RGD:40925946 NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,381,815...54,383,697 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659339 NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:60,185,452...60,237,034 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17562247 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Classic Hodgkin lymphoma ClinVar PMID:28492532 PMID:32934698 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Classic Hodgkin lymphoma ClinVar PMID:32934698 NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,461,547...9,476,242 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037568 NCBI chr17:73,544,234...73,575,670
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 disease_progression ISO RGD PMID:21916526 RGD:10450802 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406608 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 disease_progression ISO RGD PMID:21916526 RGD:10450802 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:7621881 PMID:8656679 PMID:7686390 RGD:11520780 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:21466366 RGD:11049168 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il6 interleukin 6 treatment ISO DNA:SNPs: :multiple RGD PMID:21466366 PMID:19573080 RGD:11049168, RGD:11049165 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035 		JBrowse link
G Klhdc8b kelch domain containing 8B susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Classic Hodgkin lymphoma | ClinVar Annotator: match by term: KLHDC8B-related condition		 CTD
ClinVar
OMIM		 PMID:19706467 PMID:28492532 NCBI chr 8:118,020,136...118,025,102
Ensembl chr 8:109,141,594...109,146,918 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Classic Hodgkin lymphoma ClinVar PMID:20147967 PMID:20570890 PMID:25251940 PMID:25741868 PMID:26110767 More... NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7545087 NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Classic Hodgkin lymphoma ClinVar PMID:14559814 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 More... NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24688052 NCBI chr 4:117,368,833...117,380,350
Ensembl chr 4:115,811,139...115,822,608 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Classic Hodgkin lymphoma ClinVar PMID:25741868 PMID:32934698 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19223558 PMID:10340377 PMID:10556199 RGD:2298893, RGD:2298894 NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO mRNA:increased expression:lymphoid tissue (human) RGD PMID:26044287 RGD:11060455 NCBI chr  X:102,862,457...102,867,725
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chr 3:177,056,588...177,106,424
Ensembl chr 3:156,638,769...156,687,504 		JBrowse link
G Pvt1 Pvt1 oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037568 NCBI chr 7:95,545,916...95,769,306 JBrowse link
G Rel REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037568 NCBI chr14:101,891,238...101,922,324
Ensembl chr14:97,695,161...97,720,892 		JBrowse link
G Sdc1 syndecan 1 ISO protein:altered expression:tumor (human) RGD PMID:9746758 RGD:9743928 NCBI chr 6:37,282,041...37,304,503
Ensembl chr 6:31,562,739...31,585,264 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7621881 PMID:8701986 PMID:10908157 PMID:12358914 PMID:12453859 More... NCBI chr 5:162,406,387...162,451,620
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7621881 PMID:8656679 PMID:8701986 PMID:8896393 PMID:9058727 More... NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18768784 NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
Immunoblastic Lymphadenopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 PMID:24584070 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
immunodeficiency 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oas1a 2'-5' oligoadenylate synthetase 1A ISO ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia OMIM
ClinVar		 PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 More... NCBI chr12:41,330,423...41,341,130
Ensembl chr12:35,669,801...35,680,517 		JBrowse link
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality | ClinVar Annotator: match by term: HYOU1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr 8:53,602,882...53,614,998
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
immunodeficiency 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 61 | ClinVar Annotator: match by term: SH3KBP1-related condition		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:29636373 NCBI chr  X:38,686,530...39,031,658
Ensembl chr  X:34,877,866...35,222,747 		JBrowse link
infectious mononucleosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO protein:increased expression:monocyte, neutrophil, serum: RGD PMID:11185989 RGD:11049152 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand ISO protein:increased expression:lymphocyte, serum: RGD PMID:11185989 RGD:11049152 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO RGD PMID:23628056 RGD:38501103 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Il27 interleukin 27 ISO protein:increased expression:blood serum (human) RGD PMID:33571934 RGD:126790542 NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:181,173,372...181,178,582 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism:cds:HLA-DRB1*0101 (human) RGD PMID:21482926 RGD:40818406 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:7964476 RGD:11035288 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13a ARF like GTPase 13A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702 		JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:102,192,225...102,196,130
Ensembl chr  X:97,898,883...97,903,299 		JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:102,273,915...102,278,789
Ensembl chr  X:97,980,660...97,985,552 		JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:102,230,464...102,234,017
Ensembl chr  X:97,936,999...97,942,098 		JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:102,153,743...102,164,173
Ensembl chr  X:97,860,629...97,870,912 		JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,929,032...97,932,031
Ensembl chr  X:97,929,041...97,931,977 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: BTK-related condition | ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 More... NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,515,919...97,567,671
Ensembl chr  X:97,515,972...97,567,657 		JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,546,809...101,572,760
Ensembl chr  X:97,253,586...97,279,476 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,900,743...101,951,403
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:102,062,497...102,073,915
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:102,074,175...102,080,115
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,572,338...101,625,571
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:102,828,592...102,845,799
Ensembl chr  X:98,535,375...98,552,526 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,061,002...101,166,777
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:102,058,573...102,062,162
Ensembl chr  X:97,766,179...97,768,892
Ensembl chr20:97,766,179...97,768,892 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,399,748...101,425,486
Ensembl chr  X:97,106,561...97,132,195 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,428,785...101,479,207
Ensembl chr  X:97,135,500...97,185,854 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,953,508...101,968,336
Ensembl chr  X:97,660,222...97,675,023 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More... NCBI chr  X:102,011,206...102,015,444
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,796,623...101,807,471
Ensembl chr  X:97,503,350...97,514,197 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,350,432...101,365,929
Ensembl chr  X:97,057,137...97,072,634 		JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,385,686...101,395,371
Ensembl chr  X:97,092,388...97,099,309 		JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,634,438...101,733,814
Ensembl chr  X:97,341,152...97,354,759 		JBrowse link
JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfatc2 nuclear factor of activated T-cells 2 ISO OMIM NCBI chr 3:177,615,189...177,747,493
Ensembl chr 3:157,198,872...157,328,325 		JBrowse link
lymphangioleiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 3:164,464,124...164,507,607
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 1:209,993,881...210,056,329
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:18285421 RGD:4892300 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gls glutaminase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 9:56,836,584...56,908,861
Ensembl chr 9:49,344,781...49,416,900 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr11:84,210,632...84,213,045
Ensembl chr11:70,705,764...70,708,192 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr 6:137,804,133...137,826,738
Ensembl chr 6:131,983,056...132,005,818 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:23035046 RGD:8693678 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic ClinVar PMID:25741868 PMID:28492532 NCBI chr10:14,160,334...14,166,502
Ensembl chr10:13,655,785...13,661,957 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Lymphangiomyomatosis ClinVar PMID:25741868 NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr 8:68,949,731...68,975,394
Ensembl chr 8:60,057,402...60,079,599 		JBrowse link
G Rictor RPTOR independent companion of MTOR, complex 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 2:57,539,279...57,631,291
Ensembl chr 2:55,811,322...55,901,426 		JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 2:194,805,556...194,832,966
Ensembl chr 2:192,124,289...192,144,611 		JBrowse link
G Srf serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chr 9:21,924,050...21,933,338
Ensembl chr 9:14,426,472...14,435,733 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5279523 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 More... NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO DNA:loss of heterozygosity
ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More... RGD:11568662, RGD:1580521 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:33,704,582...33,740,305
Ensembl chr  X:30,074,163...30,108,295 		JBrowse link
lymphoblastic lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo1 forkhead box O1 ISO RGD PMID:17254969 RGD:155630604 NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:136,312,168...136,387,790 		JBrowse link
G Foxo3 forkhead box O3 ISO RGD PMID:17254969 RGD:155630604 NCBI chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561 		JBrowse link
G Foxo4 forkhead box O4 ISO RGD PMID:17254969 RGD:155630604 NCBI chr  X:70,425,218...70,432,120
Ensembl chr  X:66,385,558...66,392,115 		JBrowse link
lymphoid leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23589568 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO RGD PMID:21998213 RGD:11353857 NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO DNA:hypermethylation:promoter: RGD PMID:10602427 RGD:11252194 NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Clptm1l CLPTM1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:24292274 NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:29,667,545...29,683,530 		JBrowse link
G Eng endoglin disease_progression ISO RGD PMID:25030442 RGD:11041170 NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO DNA:translocation: : RGD PMID:9539781 RGD:10450724 NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
G Fcgr2a Fc gamma receptor 2A treatment
no_association		 ISO DNA:polymorphism:exon:p.H131A (human) RGD PMID:20705761 PMID:15217834 RGD:11344969, RGD:11344968 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fcgr2b Fc gamma receptor 2B treatment ISO RGD PMID:20705761 RGD:11344969 NCBI chr13:85,725,897...85,740,517
Ensembl chr13:83,193,163...83,207,778 		JBrowse link
G Fcgr3a Fc gamma receptor 3A no_association ISO DNA:polymorphism:exon:p.F158V (rs396991) (human) RGD PMID:15217834 RGD:11344968 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:8569275 RGD:11059504 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:cds:p.I105V(human) RGD PMID:12010828 RGD:10755404 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Ipcef1 interaction protein for cytohesin exchange factors 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24292274 NCBI chr 1:45,654,252...45,857,045
Ensembl chr 1:43,269,202...43,427,969 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17463288 NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:3162254 NCBI chr19:40,356,967...40,359,834
Ensembl chr19:23,452,140...23,455,007 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770046 NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:112,909,321...113,464,590 		JBrowse link
G Pot1 protection of telomeres 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23502782 PMID:24292274 NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO DNA:translocation: : RGD PMID:9539781 RGD:10450724 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor ISS MouseDO NCBI chr 5:133,823,093...133,837,737
Ensembl chr 5:128,587,701...128,600,976 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24292274 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase IMP DNA:deletion:exon:
DNA:missense mutation:cds:		 RGD PMID:28007901 PMID:27895165 RGD:12879399, RGD:12879393 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Atmm1Kyo ATM serine/threonine kinase; ENU induced mutant 1, Kyo IMP RGD PMID:27895165 RGD:12879393
G Bcl11b BCL11 transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941976 NCBI chr 6:132,598,968...132,692,123
Ensembl chr 6:126,834,531...126,928,224 		JBrowse link
G Ccnb1 cyclin B1 ISO RGD PMID:19666607 RGD:2315935 NCBI chr 2:33,646,252...33,655,225
Ensembl chr 2:31,912,193...31,921,172 		JBrowse link
G Cd274 CD274 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28736328 NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9488045 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:9488045 NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO DNA:missense mutation:CDS p.D140E (rs7479004) (human) RGD PMID:25407497 RGD:153323305 NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
G Ephx1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406608 NCBI chr13:95,246,079...95,275,852
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO RGD PMID:11238917 RGD:11567233 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Hmga1 high mobility group AT-hook 1 ISS MouseDO NCBI chr20:5,612,902...5,620,596
Ensembl chr20:5,611,694...5,618,752 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Lymphoma ClinVar NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11980663 NCBI chr14:90,468,696...90,556,522
Ensembl chr14:86,255,065...86,342,416 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Lymphoma ClinVar NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9205081 NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Mad1l1 mitotic arrest deficient 1 like 1 ISO RGD PMID:11423979 RGD:1599865 NCBI chr12:19,434,782...19,744,574
Ensembl chr12:14,320,892...14,630,703 		JBrowse link
G Malt1 MALT1 paracaspase ISO RGD PMID:10523859 RGD:1599913 NCBI chr18:61,212,290...61,266,272
Ensembl chr18:58,942,299...58,994,260 		JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: therapeutic CTD PMID:28736328 NCBI chr18:57,371,349...57,371,453
Ensembl chr18:55,101,006...55,101,110 		JBrowse link
G Mir155 microRNA 155 ISS MouseDO NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mlh1 mutL homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15700306 NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799656 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799656 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18798262 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9205081 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Lymphoma ClinVar PMID:25741868 NCBI chr14:81,057,727...81,135,866
Ensembl chr14:76,835,637...76,913,641 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: therapeutic CTD PMID:17441966 NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 ISO DNA:translocation:intron:t(ll;14)(q23;q32) (human) RGD PMID:11983068 RGD:4107059 NCBI chr 8:55,156,778...55,208,800
Ensembl chr 8:46,261,064...46,279,833 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22800774 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B susceptibility ISO RGD PMID:21670604 RGD:10043812 NCBI chr10:80,434,888...80,450,919
Ensembl chr10:79,938,066...79,954,083 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:17609424 RGD:6483350 NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287727 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: therapeutic CTD PMID:19075289 NCBI chr 2:56,061,699...56,074,594
Ensembl chr 2:54,335,424...54,346,670 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Lymphoma ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12325025 PMID:12634870 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19783987 NCBI chr 7:111,981,825...112,009,201
Ensembl chr 7:110,116,260...110,128,720 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO RGD PMID:9047386 RGD:2298891 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Rpl11 ribosomal protein L11 susceptibility ISO RGD PMID:26489471 RGD:11535971 NCBI chr 5:153,557,592...153,561,230
Ensembl chr 5:148,274,069...148,277,599 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Lymphoma ClinVar NCBI chr18:74,465,616...74,827,455
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Sox4 SRY-box transcription factor 4 ISO RGD PMID:15231650 RGD:1581305 NCBI chr17:35,876,298...35,881,004
Ensembl chr17:35,667,537...35,673,665 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lymphoma		 CTD
ClinVar		 PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Twf1 twinfilin actin-binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19783987 NCBI chr 7:127,595,210...127,607,821
Ensembl chr 7:125,716,015...125,727,894 		JBrowse link
Lymphoma, AIDS-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase disease_progression ISO RGD PMID:18090274 RGD:32716407 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7680712 PMID:9817281 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:12176798 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Sdc1 syndecan 1 ISO protein:altered expression:tumor (human) RGD PMID:11157493 RGD:9743929 NCBI chr 6:37,282,041...37,304,503
Ensembl chr 6:31,562,739...31,585,264 		JBrowse link
G Tfrc transferrin receptor treatment ISO RGD PMID:26325374 RGD:11062098 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
Lymphomatoid Papulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11594583 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11594583 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:11594583 NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
lymphoplasmacytic lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO DNA:mutation:cds:1013C>G(p.S338X)(human) RGD PMID:24711662 RGD:11352304 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Fcgr3a Fc gamma receptor 3A disease_progression
treatment		 ISO DNA:polymorphism: :
DNA:SNP:exon:p.F158V (rs396991) (human)		 RGD PMID:21564078 PMID:15659493 RGD:11040774, RGD:11352262 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:increased expression:bone marrow RGD PMID:32763516 RGD:401827827 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNPs: :multiple RGD PMID:19573080 RGD:11049165 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il6 interleukin 6 no_association ISO DNA:SNPs: :multiple
DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)		 RGD PMID:19573080 PMID:19573080 RGD:11049165, RGD:11049165 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:23355206 RGD:11530052 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic		 CTD
ClinVar
OMIM		 PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:28492532 More... NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
lymphoproliferative syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip2 cytoplasmic FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:31,122,653...31,242,440
Ensembl chr10:30,621,318...30,741,113 		JBrowse link
G Fndc9 fibronectin type III domain containing 9 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:30,664,435...30,668,213
Ensembl chr10:30,667,091...30,667,771 		JBrowse link
G Garin3 golgi associated RAB2 interactor family member 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:31,331,196...31,334,434
Ensembl chr10:30,829,877...30,833,111 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698 		JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:31,383,801...31,415,334
Ensembl chr10:30,882,606...30,909,137 		JBrowse link
G Itk IL2-inducible T-cell kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1		 OMIM
CTD
ClinVar		 PMID:8985255 PMID:9536098 PMID:16199547 PMID:16860760 PMID:17412921 More... NCBI chr10:31,254,667...31,316,004
Ensembl chr10:30,753,344...30,814,685 		JBrowse link
G Med7 mediator complex subunit 7 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:30,842,330...30,857,873
Ensembl chr10:30,842,292...30,859,220 		JBrowse link
G Nipal4 NIPA-like domain containing 4 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:31,085,267...31,101,979
Ensembl chr10:30,583,926...30,600,640 		JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:31,847,713...32,829,554
Ensembl chr10:31,280,511...31,724,840 		JBrowse link
G Timd4 T-cell immunoglobulin and mucin domain containing 4 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:31,686,994...31,723,095
Ensembl chr10:31,185,731...31,220,966 		JBrowse link
lymphoproliferative syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,537,395...159,550,454
Ensembl chr 4:157,841,841...157,864,213 		JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 1:183,485,259...183,509,712
Ensembl chr 1:174,053,931...174,078,341 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Akap3 A-kinase anchoring protein 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:161,374,198...161,400,062
Ensembl chr 4:159,699,289...159,713,903 		JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:160,200,471...160,541,830
Ensembl chr 4:158,496,014...158,855,651 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:157,472,879...157,500,496
Ensembl chr 4:155,800,887...155,827,390 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,240,573...159,254,378
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:157,412,692...157,423,484 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,080,495...159,097,066
Ensembl chr 4:157,394,200...157,410,134 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:156,075,389...156,084,701 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22197273 PMID:22801960 More... NCBI chr 4:159,716,932...159,721,823
Ensembl chr 4:158,030,703...158,035,592 		JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:157,668,878...157,695,191 		JBrowse link
G Cd9 CD9 molecule ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,942,553...159,975,463
Ensembl chr 4:158,256,328...158,289,222 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,321,203...159,325,072
Ensembl chr 4:157,634,928...157,638,799 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:157,845,811...157,857,926
Ensembl chr 4:156,173,894...156,186,008 		JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:157,885,899...157,896,728
Ensembl chr 4:156,214,718...156,224,817 		JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:158,148,434...158,171,933
Ensembl chr 4:156,462,742...156,486,240 		JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:158,275,287...158,286,978
Ensembl chr 4:156,589,792...156,598,848 		JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:158,292,624...158,298,607
Ensembl chr 4:156,607,614...156,612,767 		JBrowse link
G Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:158,225,100...158,244,722
Ensembl chr 4:156,539,408...156,558,605
Ensembl chr 4:156,539,408...156,558,605 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,017,795...159,051,069
Ensembl chr 4:157,331,494...157,364,769 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,452,878...159,478,878
Ensembl chr 4:157,766,588...157,773,948 		JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:157,523,426...157,526,810
Ensembl chr 4:155,815,296...155,854,861
Ensembl chr 5:155,815,296...155,854,861 		JBrowse link
G Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:161,401,580...161,443,816
Ensembl chr 4:159,715,417...159,757,627 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,195,545...159,203,826
Ensembl chr 4:157,509,277...157,517,540 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Fam90a1a family with sequence similarity 90 member A1A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr16:76,801,218...76,808,469
Ensembl chr16:70,098,740...70,101,241 		JBrowse link
G Ferry3 FERRY endosomal RAB5 effector complex subunit 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:161,458,942...161,494,213
Ensembl chr 4:159,772,786...159,806,382 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Fgf6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:161,541,089...161,549,624
Ensembl chr 4:159,854,913...159,863,447 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:157,718,990...157,745,468
Ensembl chr 4:156,046,969...156,073,518 		JBrowse link
G Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:161,307,603...161,336,485 JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:157,503,547...157,507,923
Ensembl chr 4:155,830,909...155,835,937 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,325,741...159,331,443
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,348,465...159,354,577
Ensembl chr 4:157,662,200...157,668,121 		JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,237,562...159,239,223 JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,631,309...159,648,531
Ensembl chr 4:157,945,107...157,962,302 		JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,528,183...159,536,762
Ensembl chr 4:157,841,951...157,850,265 		JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:159,464,188...159,472,682 		JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:159,350,097...159,357,697 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:161,229,103...161,262,352
Ensembl chr 4:159,542,615...159,576,189 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,398,930...159,407,001
Ensembl chr 4:157,712,667...157,720,404 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,556,735...159,570,216
Ensembl chr 4:157,881,796...157,882,950 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,154,690...159,196,176
Ensembl chr 4:157,468,290...157,509,880 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,267,572...159,277,764
Ensembl chr 4:157,581,291...157,591,860 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,795,115...159,801,571
Ensembl chr 4:158,108,886...158,121,539 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:157,399,919...157,422,448
Ensembl chr 4:155,727,925...155,750,458 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,209,525...159,209,618
Ensembl chr 4:157,523,239...157,523,332 		JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,209,965...159,210,033 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,425,542...159,430,584
Ensembl chr 4:157,728,756...157,744,317 		JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,677,988...159,681,650
Ensembl chr 4:157,992,408...157,995,414 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:157,615,687...157,623,061
Ensembl chr 4:155,943,737...155,951,116 		JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,655,051...159,677,938
Ensembl chr 4:157,968,815...157,992,020 		JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:161,345,398...161,374,188
Ensembl chr 4:159,659,242...159,688,018 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:157,775,890...157,790,992
Ensembl chr 4:156,103,988...156,119,068 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,618,894...159,630,697
Ensembl chr 4:157,932,716...157,944,459 		JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,332,514...159,348,428
Ensembl chr 4:157,646,243...157,662,035 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:158,956,973...158,983,581
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,203,948...159,208,561
Ensembl chr 4:157,517,577...157,522,272 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,482,678...159,491,085
Ensembl chr 4:157,798,808...157,804,842 		JBrowse link
G Plekhg6 pleckstrin homology and RhoGEF domain containing G6 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,849,987...159,885,730
Ensembl chr 4:158,162,969...158,182,271 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,408,647...159,412,837
Ensembl chr 4:157,722,386...157,727,009 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,212,320...159,237,069
Ensembl chr 4:157,526,035...157,550,984 		JBrowse link
G Rad51ap1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:161,445,610...161,458,661
Ensembl chr 4:159,759,459...159,772,524 		JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:157,336,950...157,396,970
Ensembl chr 4:155,664,375...155,706,711 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:155,960,946...156,025,472 		JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,298,362...159,301,568
Ensembl chr 4:157,613,401...157,615,284 		JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,707,686...159,715,137 JBrowse link
G Tigar TP53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:161,613,306...161,632,248
Ensembl chr 4:159,927,139...159,946,029
Ensembl chr 6:159,927,139...159,946,029 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,305,927...159,321,345
Ensembl chr 4:157,619,643...157,634,711 		JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,698,894...159,705,582
Ensembl chr 4:158,012,663...158,019,349 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:25741868 NCBI chr  X:125,756,107...125,803,979
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:28492532 NCBI chr 4:159,496,481...159,526,010
Ensembl chr 4:157,810,352...157,839,766 		JBrowse link
Lymphoproliferative Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd70 Cd70 molecule ISO ClinVar Annotator: match by term: CD70-related condition | ClinVar Annotator: match by term: LYMPHOPROLIFERATIVE SYNDROME 3 OMIM
ClinVar		 PMID:25741868 PMID:28011863 PMID:28011864 NCBI chr 9:2,093,540...2,096,692
Ensembl chr 9:2,006,563...2,009,715 		JBrowse link
Macrophage Activation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il18 interleukin 18 ISO associated with Arthritis, Juvenile;protein:increased expression:serum RGD PMID:20472718 RGD:8655917 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217959 NCBI chr 6:26,743,658...26,771,783
Ensembl chr 6:20,995,266...21,018,248 		JBrowse link
G Prf1 perforin 1 ISO associated with Arthritis, Juvenile Rheumatoid;DNA:missense mutation:cds:p.A91V (human) RGD PMID:20019066 RGD:6482811 NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,246,202...29,251,701 		JBrowse link
mantle cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23676220 NCBI chr 3:36,310,113...36,320,760
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Arhgap29 Rho GTPase activating protein 29 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17488656 NCBI chr 2:212,744,626...212,816,710
Ensembl chr 2:210,071,199...210,132,028 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Mantle cell lymphoma ClinVar PMID:10706620 PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Btk Bruton tyrosine kinase treatment ISO RGD PMID:23045577 RGD:11040699 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Mantle cell lymphoma ClinVar PMID:10706620 PMID:28492532 NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Ccdc50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr11:86,837,624...86,900,164
Ensembl chr11:73,334,248...73,395,150 		JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:bone marrow, peripheral blood (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22383795 PMID:26174628 PMID:24060591 RGD:11352827 NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Cd79b CD79b molecule treatment ISO protein:decreased expression:blood, B cell (human)
human cells in mouse model		 RGD PMID:10329919 PMID:17374736 RGD:11531139, RGD:151665154 NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Eif4e eukaryotic translation initiation factor 4E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17148679 NCBI chr 2:229,736,309...229,772,628
Ensembl chr 2:227,066,673...227,098,683 		JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17148679 NCBI chr16:71,495,457...71,508,845
Ensembl chr16:64,790,226...64,805,984 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chr11:76,004,502...76,154,665
Ensembl chr11:62,504,316...62,648,646 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17148679 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23676220 NCBI chr 5:165,377,994...165,426,620
Ensembl chr 5:160,094,952...160,120,930 		JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chr  X:102,862,457...102,867,725
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b susceptibility ISO DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
DNA:SNP:exon:626C>G, 1322A>G (human)		 RGD PMID:16217763 PMID:15531454 RGD:11038717, RGD:11038718 NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G Wnt10a Wnt family member 10A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chr 9:83,798,594...83,811,060
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
G Wnt3 Wnt family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chr10:89,180,224...89,224,195
Ensembl chr10:88,680,248...88,724,099 		JBrowse link
marginal zone lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl10 BCL10, immune signaling adaptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:237,501,181...237,510,821
Ensembl chr 2:234,840,858...234,850,523 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor disease_progression ISO RGD PMID:15231650 RGD:1581305 NCBI chr14:2,185,489...2,204,191
Ensembl chr14:2,042,434...2,051,814 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQA1*0103 (human) RGD PMID:16234023 RGD:5147794 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQB1*0601 (human) RGD PMID:16234023 RGD:5147794 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
mature T-cell and NK-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H19 H19 imprinted maternally expressed transcript disease_progression ISO DNA:SNPs:intron: (rs2839698) (human) RGD PMID:34077009 RGD:243048423 NCBI chr 1:207,160,175...207,162,851
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
monoclonal gammopathy of uncertain significance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISS MouseDO NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Nefh neurofilament heavy chain ISO associated with Peripheral Nervous System Diseases RGD PMID:12536221 RGD:9693726 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
multicentric Castleman disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar PMID:16804045 PMID:28492532 PMID:36572623 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar NCBI chr 7:129,326,371...129,443,813
Ensembl chr 7:127,447,278...127,563,512 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar NCBI chr 1:94,949,144...94,969,239
Ensembl chr 1:85,821,753...85,841,326 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar NCBI chr 7:9,241,449...9,264,216
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Mpeg1 macrophage expressed 1 ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar NCBI chr 1:209,452,176...209,456,692
Ensembl chr 1:209,452,133...209,458,855 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31309983 PMID:32051554 PMID:33692461 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
multiple myeloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 treatment ISO RGD PMID:26314844 PMID:16917002 RGD:11081075, RGD:11081144 NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Ace angiotensin I converting enzyme ISO protein:increased activity:serum RGD PMID:22345095 RGD:11038914 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17096887 RGD:11035276 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr10:45,844,411...45,865,853
Ensembl chr10:45,343,395...45,366,331 		JBrowse link
G Apoe apolipoprotein E treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Arid4a AT-rich interaction domain 4A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:95,258,429...95,335,987
Ensembl chr 6:89,522,442...89,593,510 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Aurka aurora kinase A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:181,546,742...181,562,890
Ensembl chr 3:161,128,313...161,144,390 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Myelomatosis
protein:increased expression:serum		 ClinVar
RGD		 PMID:26619011 PMID:32856850 RGD:329955356 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:80,069,960...80,144,167
Ensembl chr 9:72,623,155...72,694,265 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12429644 PMID:14656874 RGD:11353847 NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479 		JBrowse link
G Bcl2l10 Bcl2-like 10 ISO protein:increased expression:bone marrow : RGD PMID:27455953 RGD:14392808 NCBI chr 8:84,987,833...84,993,878
Ensembl chr 8:76,107,326...76,113,367 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:132,394,703...132,462,414
Ensembl chr  X:127,537,538...127,584,087 		JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18172295 NCBI chr 1:203,137,778...203,154,962
Ensembl chr 1:193,708,167...193,725,359 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 More... NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:11904319 PMID:16199547 PMID:17924331 PMID:20104584 PMID:21990134 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567 		JBrowse link
G Btg1 BTG anti-proliferation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr 7:33,228,149...33,230,406
Ensembl chr 7:31,341,027...31,343,649 		JBrowse link
G Cbl Cbl proto-oncogene ISO mRNA:decreased expression:mononuclear cell: RGD PMID:23948411 RGD:11038794 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cbx7 chromobox 7 susceptibility ISO DNA:snp:intron:c.113+3502C>T (human) (rs877529)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23955597 PMID:23955597 RGD:11352716 NCBI chr 7:113,341,030...113,358,716
Ensembl chr 7:111,460,656...111,477,973 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccn1 cellular communication network factor 1 exacerbates ISO mRNA,protein:increased expression:bone marrow (human)
mRNA, protein:increased expression:bone marrow (human)		 RGD PMID:25061178 PMID:28035364 RGD:329845546, RGD:329845528 NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Multiple myeloma
DNA:snp:exon:c.870G>A (rs603965) (human)		 CTD
ClinVar
OMIM
RGD		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... RGD:1581171, RGD:11353784 NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 9:20,891,696...20,987,199
Ensembl chr 9:13,394,169...13,489,371 		JBrowse link
G Cd40 CD40 molecule treatment ISO human cells in a mouse model RGD PMID:10866315 RGD:11522720 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand treatment
disease_progression		 ISO protein:increased expression:serum (human) RGD PMID:15565183 PMID:27243341 PMID:22403003 RGD:11352240, RGD:11352268, RGD:11352251 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:plasma cell (human) RGD PMID:16728275 RGD:11352814 NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:bone marrow, plasma cell (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16611307 PMID:22705596 RGD:11354971 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression ISO DNA:hypermethylation::
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16008847 PMID:12681979 RGD:11252185 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2c cyclin-dependent kinase inhibitor 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 5:129,639,736...129,645,564
Ensembl chr 5:124,411,124...124,416,278 		JBrowse link
G Cfhr1 complement factor H-related 1 treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr13:53,946,298...53,961,282
Ensembl chr13:51,369,211...51,410,592 		JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16930142 RGD:4892645 NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Crbn cereblon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma		 CTD
ClinVar		 PMID:26186254 NCBI chr 4:141,255,400...141,276,722
Ensembl chr 4:139,701,094...139,719,938 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7540856 PMID:8104070 PMID:8555506 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:7534716 PMID:7540856 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr19:34,487,491...34,547,311
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 susceptibility ISO DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human) RGD PMID:18285692 RGD:11352726 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 no_association
treatment		 ISO DNA:polymorphisms: : RGD PMID:20684753 PMID:17666363 RGD:11352804, RGD:11352748 NCBI chr 1:247,879,058...247,916,804
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 no_association ISO DNA:polymorphisms: : RGD PMID:20684753 RGD:11352804 NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr15:82,231,922...82,258,299
Ensembl chr15:75,823,436...75,850,642 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Dsg2 desmoglein 2 disease_progression ISO RGD PMID:34245117 RGD:401851080 NCBI chr18:12,121,287...12,179,590
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:39,307,320...39,322,023
Ensembl chr  X:35,498,517...35,513,335 		JBrowse link
G Eng endoglin severity ISO protein:increased expression:serum: RGD PMID:23576184 RGD:11041181 NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Ephx1 epoxide hydrolase 1 no_association
susceptibility		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:SNP:exon:rs2234922 (human)		 CTD
RGD		 PMID:16949155 PMID:19736056 PMID:16949155 PMID:24521996 RGD:11252116, RGD:11252121, RGD:11252122 NCBI chr13:95,246,079...95,275,852
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO DNA:SNP: :rs735482 (human) RGD PMID:21435719 RGD:10450871 NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression
sexual_dimorphism		 ISO DNA:polymorphism: :p.K751Q (rs13181) (human)
DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)		 RGD PMID:22183071 PMID:17131345 RGD:11252199, RGD:401827277 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:80,829,935...80,838,388 		JBrowse link
G Faslg Fas ligand disease_progression ISO RGD PMID:16321857 RGD:11049149 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:53,909,759...54,029,175
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Fcgr2a Fc gamma receptor 2A disease_progression
susceptibility		 ISO DNA:polymorphism: :rs1801274(human) RGD PMID:25850245 PMID:17315188 RGD:11040778, RGD:11040938 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myelomatosis		 CTD
ClinVar		 PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Fgg fibrinogen gamma chain treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 2:170,652,929...170,660,372
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand disease_progression ISO protein:increased expression:serum: RGD PMID:26521986 RGD:11075232 NCBI chr 1:104,751,518...104,756,925
Ensembl chr 1:95,609,370...95,620,463 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO mRNA:increased expression:bone marrow RGD PMID:34274946 RGD:329901767 NCBI chr19:31,456,749...31,865,011
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:8599825 RGD:11352777 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gpx3 glutathione peroxidase 3 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 severity
no_association		 ISO
IAGP		 RGD PMID:17653713 PMID:15136237 RGD:10450826, RGD:10450846 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 no_association
treatment
disease_progression		 ISO DNA:polymorphism:cds:p.I105V(human)
DNA:polymorphism: :		 RGD PMID:18061666 PMID:17512053 PMID:23953887 RGD:10755419, RGD:11075094, RGD:10755413 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16949155 PMID:15136237 PMID:12624497 RGD:10450846, RGD:10450847 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G H19 H19 imprinted maternally expressed transcript severity ISO RNA:decrased expression:blood serum (human) RGD PMID:29470951 RGD:156430335 NCBI chr 1:207,160,175...207,162,851
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:41,914,425...41,915,206
Ensembl chr17:41,486,560...41,487,403 		JBrowse link
G H3c1 H3 clustered histone 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:41,796,236...41,796,759
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation, haplotype:cds:p.C282Y (human) RGD PMID:10383894 RGD:8694350 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hk1 hexokinase 1 ISO RGD PMID:19996089 RGD:11353882 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12855565 NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO protein:increased expression:serum: RGD PMID:7834632 PMID:7686390 RGD:11354981, RGD:11520780 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO protein:increased expression:serum,urine: RGD PMID:29940770 RGD:14985218 NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Il10 interleukin 10 disease_progression ISO DNA:SNP, polymorphisms:promoter:-1082G>A, (human)
protein:increased expression:serum		 RGD PMID:11307152 PMID:11022130 RGD:11041888, RGD:11049458 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-511C>T (human)
DNA:SNP:promoter:-889C>T (human)		 RGD PMID:25469832 PMID:1777241 PMID:17926179 RGD:11049156, RGD:11059513, RGD:11051973 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) RGD PMID:17926179 RGD:11051973 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist no_association ISO DNA:snp: :11100C>T (human)
DNA:repeats:intron:		 RGD PMID:17926179 PMID:10848780 RGD:11051973, RGD:11522764 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO DNA:SNP: :-228120T>C(rs2107356)(human) RGD PMID:17315188 RGD:11040938 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8520508 PMID:12855565 PMID:19330649 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:60,179,561...60,204,937
Ensembl chr 2:58,454,217...58,477,757 		JBrowse link
G Irf4 interferon regulatory factor 4 treatment
disease_progression		 ISO DNA:translocation
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18568025 PMID:10557056 PMID:21707574 PMID:17690696 RGD:11526161, RGD:11530055, RGD:11530019 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO DNA:hypermethylation RGD PMID:23114132 RGD:329902071 NCBI chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:24,821,568...24,866,423
Ensembl chr  X:21,345,481...21,381,870 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More... NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Multiple myeloma
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis		 ClinVar
RGD		 PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... RGD:1581756 NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:3,980,801...4,014,029
Ensembl chr 1:2,160,411...2,193,640 		JBrowse link
G Lig4 DNA ligase 4 ISO DNA:polymorphisms
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis		 CTD
ClinVar
OMIM
RGD		 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 More... RGD:1600305 NCBI chr16:86,220,345...86,228,930
Ensembl chr16:79,518,312...79,527,040 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Maf MAF bZIP transcription factor ISS OMIM:254500 MouseDO NCBI chr19:60,259,200...60,622,145
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr 2:185,884,840...185,912,532
Ensembl chr 2:183,219,220...183,222,303 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M694V(human) RGD PMID:25202401 RGD:11531123 NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO RGD PMID:11830493 RGD:2317526 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mettl14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 2:214,215,165...214,231,412
Ensembl chr 2:211,530,602...211,546,821 		JBrowse link
G Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr15:27,476,659...27,491,134
Ensembl chr15:25,003,172...25,014,041 		JBrowse link
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:127,300,558...127,396,694
Ensembl chr 3:106,851,140...106,941,043 		JBrowse link
G Mir155 microRNA 155 disease_progression ISO miRNA:decreased expression:serum RGD PMID:25497370 PMID:28446295 RGD:21079441, RGD:24922226 NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mir17 microRNA 17 disease_progression ISO miRNA:increased expression:plasma cell RGD PMID:23718138 RGD:329337383 NCBI chr15:98,587,848...98,587,931
Ensembl chr15:92,180,629...92,180,712 		JBrowse link
G Mir19a microRNA 19a ISO CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr15:98,588,131...98,588,212
Ensembl chr15:92,180,912...92,180,993 		JBrowse link
G Mir27a microRNA 27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr19:40,859,603...40,859,689
Ensembl chr19:23,954,831...23,954,917 		JBrowse link
G Mir320a microRNA 320a ameliorates ISO human gene in mouse model RGD PMID:27086852 RGD:155882577 NCBI chr15:51,926,088...51,926,169
Ensembl chr15:45,516,392...45,516,473 		JBrowse link
G Mir92a1 microRNA 92a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr15:98,588,555...98,588,632
Ensembl chr15:92,181,336...92,181,413 		JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:117,471,928...117,491,059
Ensembl chr 8:108,597,299...108,612,455 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:missense mutations:cds:677C>T, 1298A>C (human) RGD PMID:24839819 RGD:10449397 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:polymorphism: :2756A>G(human) RGD PMID:17655928 RGD:11075095 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66G>A(human) RGD PMID:17655928 RGD:11075095 NCBI chr 1:36,695,376...36,727,341
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:9949172 NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Ncor2 nuclear receptor co-repressor 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:37,127,736...37,289,612
Ensembl chr12:31,466,412...31,628,319 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO RGD PMID:16540234 PMID:12377412 RGD:2298898, RGD:2298895 NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:79,731,677...79,735,952
Ensembl chr 6:73,996,601...73,999,791 		JBrowse link
G Nono non-POU domain containing, octamer-binding exacerbates ISO mRNA:increased expression: (human) RGD PMID:32410217 RGD:155900765 NCBI chr  X:70,594,116...70,611,976
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Notch2 notch receptor 2 ISO protein:increased expression:bone marrow (human) RGD PMID:14726396 RGD:1580763 NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Nox1 NADPH oxidase 1 ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chr  X:101,572,338...101,625,571
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 no_association ISO DNA:missense mutation:cds:p.P187S (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.P187S (609C>T) (human)		 CTD
RGD		 PMID:16949155 PMID:18156703 PMID:18061666 RGD:10769348, RGD:10755419 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nras NRAS proto-oncogene, GTPase treatment ISO DNA:mutation: :
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis		 ClinVar
RGD		 PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... RGD:11535049 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Nuak1 NUAK family kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873845 NCBI chr 7:21,217,729...21,289,608
Ensembl chr 7:19,329,933...19,401,913 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21917757 NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pf4 platelet factor 4 ameliorates ISO RGD PMID:21693026 RGD:329901828 NCBI chr14:17,582,477...17,583,392
Ensembl chr14:17,298,308...17,299,365 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:18,699,389...18,708,045
Ensembl chr16:18,665,457...18,674,065 		JBrowse link
G Pml PML nuclear body scaffold severity ISO protein:increased expression:bone marrow (human) RGD PMID:22906876 RGD:41404686 NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:58,628,837...58,658,971 		JBrowse link
G Polr1g RNA polymerase I subunit G sexual_dimorphism ISO DNA:SNP:exon 1: p.G-21A (rs967591) (human) RGD PMID:17131345 RGD:401827277 NCBI chr 1:88,135,493...88,138,769
Ensembl chr 1:79,007,490...79,010,766 		JBrowse link
G Pon1 paraoxonase 1 severity
susceptibility
treatment		 ISO protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.Q192R (human)		 RGD PMID:25520116 PMID:15136237 PMID:22348216 RGD:11552578, RGD:10450846, RGD:11040544 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO associated with bortezomib treatment;mRNA:increased expression:bone marrow (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16179254 PMID:24791872 RGD:11535030 NCBI chr  X:102,862,457...102,867,725
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29158558 NCBI chr15:31,938,927...31,948,318
Ensembl chr15:27,968,910...27,978,296 		JBrowse link
G Psors1c2 psoriasis susceptibility 1 candidate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr20:3,206,886...3,208,307
Ensembl chr20:3,202,174...3,203,599 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:180,188,792...180,199,847 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:19171422 RGD:9835349 NCBI chr20:26,984,520...27,036,573
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Rbbp8 RB binding protein 8, endonuclease exacerbates ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:30622325 RGD:401940173 NCBI chr18:3,198,188...3,263,643
Ensembl chr18:2,921,286...2,988,846 		JBrowse link
G Rbp1 retinol binding protein 1 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chr 8:107,904,589...107,926,109
Ensembl chr 8:99,025,206...99,046,743 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:28492532 NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
G Robo1 roundabout guidance receptor 1 ameliorates ISO RGD PMID:34268498 RGD:243048419 NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G RT1-CE16 RT1 class I, locus CE16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17283154 NCBI chr20:3,261,656...3,265,548
Ensembl chr20:3,257,123...3,279,563 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:splice variant RGD PMID:12560229 RGD:6482834 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:31,387,892...31,474,415
Ensembl chr 3:10,989,832...11,073,712 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:145,761,558...145,794,386 		JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:24,799,391...24,916,886
Ensembl chr 1:22,980,261...23,098,283 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15908783 PMID:15908783 RGD:1581238 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sparc secreted protein acidic and cysteine rich disease_progression ISO DNA:hypermethylation: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18172295 PMID:23699600 RGD:11073605 NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16208410 RGD:1581367 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:117,425,106...117,525,495
Ensembl chr 4:115,871,265...115,964,193 		JBrowse link
G Tfrc transferrin receptor treatment ISO RGD PMID:21654517 RGD:11062101 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO DNA:hypermethylation: :
protein:decreased expression:serum:		 RGD PMID:23699600 PMID:22560388 RGD:11073605, RGD:11073614 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tnf tumor necrosis factor no_association
treatment		 ISO DNA:SNP:promoter:-308G>A (human)
DNA:SNP:promoter:-238G>A (human)		 RGD PMID:12815949 PMID:12200397 RGD:10449453, RGD:10449450 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b treatment ISO RGD PMID:16531263 RGD:11038719 NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
G Tnfrsf17 TNF receptor superfamily member 17 ISO RGD PMID:15692072 RGD:2317306 NCBI chr10:4,808,023...4,813,857
Ensembl chr10:4,301,038...4,306,788 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Tp53 tumor protein p53 disease_progression
treatment		 ISO DNA:polymorphism:cds:p.R72P(human)
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
protein:increased expression:nucleus:
DNA:deletion: :		 ClinVar
RGD		 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1978757 More... RGD:11073716, RGD:11073728, RGD:11075073 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:141,236,937...141,259,700
Ensembl chr 4:139,680,858...139,703,611 		JBrowse link
G Tyms thymidylate synthetase treatment
no_association		 ISO DNA:polymorphism: :
DNA:repeats:5'UTR:		 RGD PMID:17512053 PMID:17655928 RGD:11075094, RGD:11075095 NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536 		JBrowse link
G Ulk4 unc-51 like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120009 NCBI chr 8:129,548,431...129,843,555
Ensembl chr 8:120,670,866...120,966,924 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human) RGD PMID:24687381 RGD:11079182 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Xdh xanthine dehydrogenase ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
G Xpo5 exportin 5 severity ISO DNA:snp:3' utr:c.*659A>C (rs11077) (human) RGD PMID:22539802 RGD:11041735 NCBI chr 9:22,237,760...22,275,745
Ensembl chr 9:14,740,182...14,778,171 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 disease_progression ISO DNA:SNP,haplotype:: p.T241M (rs861535) (Human) RGD PMID:17131345 RGD:401827277 NCBI chr 6:136,684,558...136,694,822
Ensembl chr 6:130,863,959...130,872,444 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:17901044 RGD:8698655 NCBI chr 2:22,686,506...22,932,929
Ensembl chr 2:20,951,200...21,197,808 		JBrowse link
G Xrcc5 X-ray repair cross complementing 5 susceptibility ISO DNA:SNP:3'-UTR (human) RGD PMID:17901044 RGD:8698655 NCBI chr 9:81,404,507...81,493,293
Ensembl chr 9:73,955,216...74,044,018 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:13,380,551...13,451,640
Ensembl chr 8:5,095,722...5,167,010 		JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 3:188,402,228...188,417,740
Ensembl chr 3:168,024,663...168,040,172 		JBrowse link
G Yy1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 6:133,471,615...133,500,875
Ensembl chr 6:127,707,596...127,732,747 		JBrowse link
mycosis fungoides term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin disease_progression ISO RGD PMID:23702390 RGD:8923490 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis, dermis (human) RGD PMID:24127318 RGD:8695934 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*03 (human) RGD PMID:15761416 RGD:7483574 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased expression:skin: RGD PMID:20833513 RGD:8547521 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258847 NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
nasal type extranodal NK/T-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A severity ISO Nasal Type;protein:increased expression:nasal cavity (human) RGD PMID:18756548 RGD:8657087 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Cd274 CD274 molecule disease_progression ISO associated with Epstein-Barr Virus Infections RGD PMID:27595782 RGD:41412182 NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15924153 NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:60,185,452...60,237,034 		JBrowse link
G Fas Fas cell surface death receptor ISO DNA:insertion, deletions:cds:multiple (human) RGD PMID:12466128 RGD:8662407 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Gpx3 glutathione peroxidase 3 treatment ISO associated with ethmoid sinus cancer and Neoplasm Metastasis RGD PMID:29496492 RGD:151708712 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22705984 PMID:23689514 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Prdm1 PR/SET domain 1 disease_progression ISO RGD PMID:24438193 RGD:150530467 NCBI chr20:49,542,465...49,564,088
Ensembl chr20:47,959,858...47,981,488 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased expression:nasal cavity (human) RGD PMID:17225522 RGD:153298933 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chr10:86,205,148...86,276,178
Ensembl chr10:85,705,670...85,775,668 		JBrowse link
NATURAL KILLER CELL ENTEROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr10:54,243,116...54,249,675
Ensembl chr10:53,745,142...53,750,837 		JBrowse link
G Axl Axl receptor tyrosine kinase ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:81,265,088...81,296,265 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar PMID:28492532 NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:80,853,920...80,880,532 		JBrowse link
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 9:89,040,987...89,118,775
Ensembl chr 9:81,592,641...81,670,462 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 8:108,474,017...108,579,140
Ensembl chr 8:99,594,644...99,699,663 		JBrowse link
G Ptprs protein tyrosine phosphatase, receptor type, S ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 9:1,332,558...1,394,161
Ensembl chr 9:1,245,410...1,306,947 		JBrowse link
G Runx1t1 RUNX1 partner transcriptional co-repressor 1 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 5:31,984,946...32,136,878
Ensembl chr 5:27,187,551...27,335,592 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 4:147,772,955...147,850,669
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
non-Hodgkin lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa7 annexin A7 ISO protein:decreased expression:lymph node RGD PMID:17708571 RGD:2292654 NCBI chr15:3,869,180...3,897,827
Ensembl chr15:3,821,845...3,849,385 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Non-Hodgkin lymphoma ClinVar PMID:22693999 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bcl10 BCL10, immune signaling adaptor ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 2:237,501,181...237,510,821
Ensembl chr 2:234,840,858...234,850,523 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:3287162 PMID:26239085 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bcl6 BCL6, transcription repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25543051 NCBI chr11:90,358,753...90,382,049
Ensembl chr11:76,854,090...76,877,389 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17119116 NCBI chr 2:26,594,852...26,614,429
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Non-Hodgkin lymphoma ClinVar PMID:12068308 PMID:12960123 PMID:14612909 PMID:14688025 PMID:17603483 More... NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Cbs cystathionine beta synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17119116 NCBI chr20:9,709,394...9,733,925
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO DNA:snp:exon:c.870G>A (human) RGD PMID:25169547 RGD:11353786 NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:19636010 RGD:11522746 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd79b CD79b molecule treatment ISO human cells in mouse model RGD PMID:19633198 RGD:151665149 NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26506619 NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7680712 PMID:11486401 PMID:11732872 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11911406 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:polymorphism:exon:49G>A(human) RGD PMID:15114591 RGD:11352244 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406608 NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Ephx1 epoxide hydrolase 1 ISO DNA:polymorphism
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11406608 PMID:11406608 RGD:1601063 NCBI chr13:95,246,079...95,275,852
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Fcgr2a Fc gamma receptor 2A disease_progression ISO RGD PMID:25850245 RGD:11040778 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fpgs folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17119116 NCBI chr 3:36,370,505...36,391,314
Ensembl chr 3:15,972,800...15,993,563 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:25016003 RGD:11352765 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:7686390 RGD:11520780 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO protein:increased expression:serum: RGD PMID:29940770 RGD:14985218 NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO RGD PMID:8361504 RGD:1625285 NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Lrrc41 leucine rich repeat containing 41 ISO ClinVar Annotator: match by term: Non-Hodgkin lymphoma ClinVar NCBI chr 5:134,791,256...134,812,177
Ensembl chr 5:129,554,547...129,575,449 		JBrowse link
G Malt1 MALT1 paracaspase ISO RGD PMID:12560219 RGD:1599912 NCBI chr18:61,212,290...61,266,272
Ensembl chr18:58,942,299...58,994,260 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17488658 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66A>G(human) RGD PMID:15159311 RGD:11531140 NCBI chr 1:36,695,376...36,727,341
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Mtss1 MTSS I-BAR domain containing 1 ISS OMIM:605027 MouseDO NCBI chr 7:92,378,228...92,517,444
Ensembl chr 7:90,488,754...90,627,968 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutation:cds:p.Q192R (human) RGD PMID:12139735 RGD:11553822 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Lymphoma, Non-Hodgkin, Familial | ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1156555 PMID:10583959 PMID:11841437 PMID:14757862 PMID:16860143 More... NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,246,202...29,251,701 		JBrowse link
G Rad54b RAD54 homolog B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Non-Hodgkin lymphoma		 OMIM
CTD
ClinVar		 PMID:10362364 PMID:28492532 NCBI chr 5:29,829,465...29,901,967
Ensembl chr 5:25,032,066...25,104,616 		JBrowse link
G Rad54l RAD54 like ISO ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial | ClinVar Annotator: match by term: Non-Hodgkin lymphoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10362365 PMID:25741868 NCBI chr 5:134,812,158...134,841,821
Ensembl chr 5:129,575,378...129,605,070 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22096508 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G S1pr2 sphingosine-1-phosphate receptor 2 ISS OMIM:605027 MouseDO NCBI chr 8:27,779,452...27,790,344
Ensembl chr 8:19,502,627...19,523,574 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17119116 NCBI chr10:45,968,959...45,990,341
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tmem260 transmembrane protein 260 disease_progression ISO DNA:SNP: 3'UTR:rs4901706 (human) RGD PMID:24831772 RGD:155882447 NCBI chr15:21,734,119...21,804,049
Ensembl chr15:21,734,151...21,806,801 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Non-Hodgkin lymphoma ClinVar PMID:1565144 PMID:10629033 PMID:12826609 PMID:16007150 PMID:17606709 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16365025 NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536 		JBrowse link
Noonan Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:19620960 PMID:20951944 PMID:24033266 PMID:25741868 PMID:27069254 More... NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:25741868 PMID:29394990 NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Noonan Syndrome-like developmental disorder ClinVar PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:28808027 More... NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:80,829,935...80,838,388 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:missense mutations:cds:p.D106A, p.F285L (human) RGD PMID:15996221 RGD:11064737 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS ClinVar PMID:1758637 PMID:1995362 PMID:9030684 PMID:9536098 PMID:10675333 More... NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO ClinVar Annotator: match by term: Noonan-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:31024343 NCBI chr 7:69,826,404...69,848,702
Ensembl chr 7:67,940,017...67,963,668 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan-like syndrome with loose anagen hair ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr 1:262,964,345...263,052,898
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: MAZZANTI SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition | ClinVar Annotator: match by term: TOSTI SYNDROME
DNA:missense mutations:cds:multiple (human)
Noonan syndrome-like disorder with loose anagen hair 1;
DNA:mutation:cds:c.4A>G (p.S2G)(human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... RGD:155804265, RGD:11071098, RGD:11071178 NCBI chr 1:262,964,345...263,052,898
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 More... NCBI chr 6:29,681,099...29,712,835
Ensembl chr 6:23,960,998...23,992,824 		JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: CBL MUTATION-ASSOCIATED SYNDROME | ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:14991917 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
peripheral T-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413734 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G B2m beta-2 microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413734 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Cd1d1 CD1d1 molecule ISO RGD PMID:27069116 RGD:11534789 NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:172,423,582...172,427,089 		JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413734 PMID:24413737 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413734 NCBI chr20:44,322,635...44,514,498
Ensembl chr20:42,766,369...42,959,911 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413734 PMID:24413737 NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28659334 NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:79,372,119...79,407,360 		JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISS MouseDO NCBI chr13:75,707,098...75,779,114
Ensembl chr13:73,173,946...73,238,839 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413734 PMID:24413737 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413734 PMID:24413737 NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
plasma cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
plasma cell neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l1 Bcl2-like 1 severity ISO RGD PMID:15725478 RGD:11353872 NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 More... NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More... NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:15696205 PMID:25741868 NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11779494 PMID:15333585 PMID:16088910 PMID:24123394 PMID:24759409 More... NCBI chr16:86,220,345...86,228,930
Ensembl chr16:79,518,312...79,527,040 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1978757 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
plasmacytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase treatment ISO RGD PMID:20404277 RGD:11039454 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Bcl2 BCL2, apoptosis regulator susceptibility ISO human gene in a mouse model RGD PMID:14695177 RGD:11526108 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO RGD PMID:11113205 RGD:11251742 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:26140236 RGD:11049175 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Robo1 roundabout guidance receptor 1 ameliorates ISO RGD PMID:34268498 RGD:243048419 NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:2022919 RGD:10449448 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
primary cutaneous T-cell non-Hodgkin lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754746 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr12:18,735,088...18,872,045
Ensembl chr12:13,621,087...13,758,112 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 disease_progression ISO mRNA, protein:increased expression:skin, serum RGD PMID:22048239 RGD:7483601 NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:20505746 RGD:11087556 NCBI chr12:26,745,972...26,750,924
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO mRNA, protein:increased expression:skin RGD PMID:22048239 RGD:7483601 NCBI chr 1:55,022,037...55,055,857
Ensembl chr 1:52,474,168...52,498,603 		JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 PMID:26258847 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression ISO DNA:deletion (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:26192916 PMID:20118908 RGD:8552306 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B disease_progression ISO DNA:deletion (human) RGD PMID:20118908 RGD:8552306 NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Ctcf CCCTC-binding factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr19:50,431,478...50,481,013
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258847 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma RGD PMID:16428475 RGD:8655925 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il4 interleukin 4 ISO mRNA:increased expression:skin RGD PMID:7963654 RGD:7829823 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754746 NCBI chr 2:185,884,840...185,912,532
Ensembl chr 2:183,219,220...183,222,303 		JBrowse link
G Mir22 microRNA 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26244872 NCBI chr10:60,805,331...60,805,425
Ensembl chr10:60,307,039...60,307,133 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 1:255,106,010...255,114,649
Ensembl chr 1:245,165,950...245,173,213 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:149,385,587...149,416,330 		JBrowse link
G Prkcq protein kinase C, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr17:72,156,215...72,288,508
Ensembl chr17:67,246,394...67,378,704 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr10:86,205,148...86,276,178
Ensembl chr10:85,705,670...85,775,668 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr17:56,644,397...56,811,155
Ensembl chr17:51,948,948...52,115,214 		JBrowse link
pulmonary sarcoidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase severity ISO RGD PMID:9036208 RGD:5128833 NCBI chr 3:30,560,172...30,604,758
Ensembl chr 3:10,162,096...10,191,423 		JBrowse link
G Ada adenosine deaminase ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:10410539 RGD:5128856 NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:16315781 RGD:4891110 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G C3 complement C3 ISO protein:altered expression:lung RGD PMID:18069416 RGD:5129502 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO mRNA, protein:increased expression:lung RGD PMID:12626344 RGD:5130912 NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:lung:bronchoalveolar lavage cell (human) RGD PMID:10384061 RGD:4891436 NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO DNA:polymorphisms:5' utr:multiple (human)
protein:altered expression:lung, lymphocyte, macrophage (human)		 RGD PMID:19679608 PMID:11790661 RGD:4892066, RGD:4892099 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO mRNA:increased expression:lung RGD PMID:12626344 RGD:5130912 NCBI chr10:84,594,399...84,604,514
Ensembl chr10:84,097,381...84,108,309 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO DNA:mutations:whole blood : RGD PMID:20722470 RGD:4139905 NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:15763444 RGD:4892634 NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Crp C-reactive protein severity ISO RGD PMID:21086905 RGD:5131289 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17550373 PMID:9834133 RGD:5135438, RGD:5135492 NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO protein:increased expression:serum RGD PMID:17550373 RGD:5135438 NCBI chr14:15,973,728...15,976,503
Ensembl chr14:15,689,424...15,692,271 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 disease_progression ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17052298 RGD:5135244 NCBI chr14:17,594,959...17,596,417
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum, respiratory system fluid/secretion RGD PMID:17550373 RGD:5135438 NCBI chr14:16,007,166...16,012,077
Ensembl chr14:15,722,908...15,728,435 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO protein:increased expression:respiratory system fluid/secretion, T cell RGD PMID:9834133 RGD:5135492 NCBI chr  X:70,884,293...70,886,944
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cyba cytochrome b-245 alpha chain no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chr19:67,396,143...67,404,214
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr16:77,001,326...77,016,068
Ensembl chr16:70,298,863...70,313,604 		JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr16:77,352,911...77,356,104
Ensembl chr16:70,650,472...70,653,665 		JBrowse link
G Defb5 defensin beta 5 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr16:77,315,424...77,317,828
Ensembl chr16:70,613,146...70,615,467 		JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:lung (human) RGD PMID:16933469 RGD:5131899 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased activity:sputum RGD PMID:19453654 RGD:4145349 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Il15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr19:42,536,160...42,611,349
Ensembl chr19:25,640,251...25,706,820 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum
protein:increased expression:bronchoalveolar lavage fluid 		RGD PMID:11174201 PMID:16734560 RGD:4889863, RGD:4889823 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il18r1 interleukin 18 receptor 1 severity ISO RGD PMID:14641797 RGD:5024944 NCBI chr 9:50,223,274...50,257,370
Ensembl chr 9:42,727,869...42,760,715 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:8239179 RGD:4143198 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:SNP:intron: RGD PMID:15713215 RGD:4143248 NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:14665489 RGD:5131177 NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:16315781 PMID:21059230 RGD:4891110, RGD:5144061 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 disease_progression ISO DNA:polymorphism:exon:2104C>T (human) RGD PMID:19679608 RGD:4892066 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:lung RGD PMID:11789718 RGD:4891449 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO protein:increased expression:lung RGD PMID:2255800 RGD:4892566 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Ntf3 neurotrophin 3 disease_progression ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:21059230 PMID:16315781 RGD:5144061, RGD:4891110 NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression: : RGD PMID:16315781 RGD:4891110 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity
susceptibility		 ISO DNA:polymorphism:cds:DRB1*03 (human)
DNA:polymorphism:cds:DRB1*15 (human)		 RGD PMID:15881283 RGD:40818305 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:10543276 RGD:4143437 NCBI chr16:17,042,264...17,045,770
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO DNA:polymorphisms: :-509C>T (human) RGD PMID:17785866 RGD:4145294 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tlr2 toll-like receptor 2 treatment ISO mRNA:decreased expression:alveolar macrophage RGD PMID:23668840 PMID:22878868 PMID:20813038 RGD:8553184, RGD:597538465, RGD:4145301 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tnc tenascin C ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:9780295 RGD:4889595 NCBI chr 5:82,391,340...82,476,197
Ensembl chr 5:77,375,851...77,460,624 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:15653992 PMID:20070603 RGD:4143466, RGD:4143236 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:21508170 RGD:5131275 NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:20442436 RGD:5685623 NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
Pyogenic Granuloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Pyogenic granuloma ClinVar PMID:25741868 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
Respiratory Tract Granuloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl1 C-C motif chemokine ligand 1 ISO associated with Schistosomiasis mansoni RGD PMID:12600821 RGD:4145441 NCBI chr10:67,625,962...67,628,740
Ensembl chr10:67,128,331...67,131,159 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO
IEP		 mRNA:increased expression:lung RGD PMID:12600821 PMID:15181185 RGD:4145441, RGD:4145477 NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO RGD PMID:15466387 RGD:4145515 NCBI chr19:10,208,120...10,218,340
Ensembl chr19:10,202,128...10,203,819 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IDA
ISO		 associated with Schistosomiasis mansoni RGD PMID:9042155 PMID:12600821 RGD:8549740, RGD:4145441 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO associated with Schistosomiasis mansoni
associated with Mycobacterium Infections		 RGD PMID:15466387 PMID:12600821 RGD:4145515, RGD:4145441 NCBI chr19:10,263,589...10,270,359
Ensembl chr19:10,257,601...10,264,400 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:21273392 RGD:5683877 NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:21273392 RGD:5683877 NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:21273392 RGD:5683877 NCBI chr14:16,007,166...16,012,077
Ensembl chr14:15,722,908...15,728,435 		JBrowse link
G Il13 interleukin 13 treatment ISO RGD PMID:10857756 RGD:8549624 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10673208 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tlr3 toll-like receptor 3 ISO RGD PMID:19009529 RGD:5129133 NCBI chr16:53,554,916...53,572,321
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Tlr9 toll-like receptor 9 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19797157 PMID:17853411 RGD:5130186 NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
sarcoidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme disease_progression
severity		 ISO protein:increased activity:serum (human)
DNA:insertion/deletion:intron 16:
DNA:SNP:enhancer:
DNA:SNP, insertion/deletion, repeat:enhancer, intron 16, 3' utr:		 RGD
GAD		 PMID:6287584 PMID:183595 PMID:18496980 PMID:29229112 PMID:11168787 More... RGD:11039025, RGD:40400721, RGD:40400722, RGD:40400908, RGD:40400746, RGD:1331525 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a no_association ISO DNA:polymorphism: :1166A>C (human) RGD PMID:21319597 PMID:20560294 RGD:5129164, RGD:5129165 NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Anxa11 annexin A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165924 NCBI chr16:1,419,627...1,464,590
Ensembl chr16:1,410,756...1,457,797 		JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility ISO DNA:SNP: :rs2076530(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sarcoidosis, susceptibility to, 2		 OMIM
CTD
ClinVar
RGD		 PMID:15735647 PMID:22991420 RGD:7365045 NCBI chr20:4,492,100...4,505,932
Ensembl chr20:4,489,517...4,503,341 		JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO protein:increased expression:serum RGD PMID:17949965 RGD:4145494 NCBI chr19:10,208,120...10,218,340
Ensembl chr19:10,202,128...10,203,819 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:18513341 RGD:4144898 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO Lofgren Syndrome; DNA:polymorphisms:5' utr:multiple (human) RGD PMID:18311470 RGD:4892086 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd14 CD14 molecule susceptibility ISO DNA:polymorphism:promoter:c. -159C>T (human)|protein:increased expression:serum RGD PMID:20430603 PMID:20430603 RGD:4144780, RGD:4144780 NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA:increased expression:skin: RGD PMID:12885947 RGD:8662819 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cfh complement factor H susceptibility ISO DNA:SNP:cds:p.Y402H(human) RGD PMID:23497844 RGD:7365014 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Cma1 chymase 1 ISO DNA:snp:5' utr:g.-526C>T (human) RGD PMID:16446531 RGD:5128561 NCBI chr15:33,387,351...33,390,133
Ensembl chr15:29,417,451...29,420,233 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:polymorphism:exon (human) RGD PMID:14620161 RGD:4891520 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Hp haptoglobin ISO RGD PMID:17446058 RGD:5147442 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Il18 interleukin 18 disease_progression ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16100009 PMID:17015003 RGD:4889815 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human) RGD PMID:21846945 RGD:8549545 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Prdx5 peroxiredoxin 5 ISO protein:increased expression:alveolus of lung (human) RGD PMID:22837380 RGD:41404683 NCBI chr 1:213,529,042...213,532,787
Ensembl chr 1:204,099,826...204,114,268 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 susceptibility ISO protein:decreased expression:lung:
DNA:SNP: :8473 T > C (human)		 RGD PMID:14511257 PMID:19042116 RGD:5135507, RGD:5135505 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms: :HLA-DQBl*O603, DQB1*0604(human) RGD PMID:9659531 RGD:36174017 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B-7, HLA-B-8 (human) RGD PMID:23808178 RGD:7364872 NCBI chr20:3,314,491...3,322,815 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: : HLA-DRB1*08:03(human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :multiple alleles		 OMIM
CTD
RGD		 PMID:14508706 PMID:22991420 PMID:14508706 RGD:7365045, RGD:7365081 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8909942 PMID:14508706 PMID:17956852 NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
G Sftpd surfactant protein D ISO associated with Uveitis;protein:increased expression:serum RGD PMID:20151281 RGD:4143491 NCBI chr16:17,080,575...17,093,047
Ensembl chr16:17,046,483...17,059,927 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:repeat, SNP:promoter, intron (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16597321 PMID:22160516 RGD:5684925 NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10673208 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785866 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
Schnitzler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO RGD PMID:1831824 RGD:7794711 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:16096327 PMID:16096327 RGD:11522758 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
Sezary's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: Sezary syndrome ClinVar PMID:9989495 NCBI chr 2:237,501,181...237,510,821
Ensembl chr 2:234,840,858...234,850,523 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Brd9 bromodomain containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 1:31,158,546...31,185,812
Ensembl chr 1:29,329,985...29,357,016 		JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 PMID:26551670 NCBI chr12:18,735,088...18,872,045
Ensembl chr12:13,621,087...13,758,112 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr 8:123,054,505...123,060,244
Ensembl chr 8:114,176,974...114,178,056 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr10:54,562,437...54,588,842
Ensembl chr10:54,063,629...54,090,047 		JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr  X:70,435,340...70,439,052
Ensembl chr  X:66,392,542...66,399,823 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:149,385,587...149,416,330 		JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 1:237,818,950...239,052,184
Ensembl chr 1:228,408,947...229,639,080 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rps6ka1 ribosomal protein S6 kinase A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr 5:151,362,819...151,402,064
Ensembl chr 5:146,079,021...146,118,272 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:16403914 RGD:8661723 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258847 NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 PMID:26551670 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr17:56,644,397...56,811,155
Ensembl chr17:51,948,948...52,115,214 		JBrowse link
splenic marginal zone lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79b molecule ISO protein:decreased expression:blood, B cell (human) RGD PMID:10329919 RGD:11531139 NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
Subcutaneous Panniculitis-like T-Cell Lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Havcr2 hepatitis A virus cellular receptor 2 ISO ClinVar Annotator: match by term: HAVCR2-related condition | ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 PMID:30374066 PMID:30429576 PMID:30792187 More... NCBI chr10:31,383,801...31,415,334
Ensembl chr10:30,882,606...30,909,137 		JBrowse link
T-cell acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20019844 NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 treatment ISO RGD PMID:26116659 RGD:11541128 NCBI chr17:71,020,884...71,037,779
Ensembl chr17:66,110,963...66,127,873 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia ClinVar PMID:9531611 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia ClinVar PMID:9989495 NCBI chr 2:237,501,181...237,510,821
Ensembl chr 2:234,840,858...234,850,523 		JBrowse link
G Bcl11b BCL11 transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20972433 NCBI chr 6:132,598,968...132,692,123
Ensembl chr 6:126,834,531...126,928,224 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:23471820 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25384343 RGD:11100039 NCBI chr12:18,735,088...18,872,045
Ensembl chr12:13,621,087...13,758,112 		JBrowse link
G Ccnd3 cyclin D3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28671688 NCBI chr 9:20,891,696...20,987,199
Ensembl chr 9:13,394,169...13,489,371 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression ISO DNA:deletion, missense, nonsense mutations:cds: RGD PMID:16407836 PMID:17507663 PMID:8637233 PMID:19759355 PMID:23178376 RGD:11251741, RGD:11251765, RGD:11251776, RGD:11251774, RGD:11251744 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 disease_progression ISO RGD PMID:17507663 PMID:16407836 RGD:11251765, RGD:11251741
G Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 disease_progression ISO RGD PMID:19759355 PMID:16407836 RGD:11251774, RGD:11251741
G Cnot3 CCR4-NOT transcription complex, subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23263491 NCBI chr 1:74,471,284...74,487,527
Ensembl chr 1:65,555,924...65,572,167 		JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia ClinVar PMID:23604229 PMID:24081659 PMID:24403076 PMID:24614839 PMID:24854193 More... NCBI chr 5:143,583,126...143,604,382
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
G Ctcf CCCTC-binding factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28671688 NCBI chr19:50,431,478...50,481,013
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:26931577 RGD:11352292 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha disease_progression
susceptibility		 ISO DNA:mutations: :
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation:exon:p.R882H(human)		 ClinVar
RGD		 PMID:23341344 PMID:26072070 RGD:9589073, RGD:11041131 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO RGD PMID:22431509 RGD:10755340 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 PMID:24394663 NCBI chr 2:172,447,738...172,609,591
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
G Hmga1 high mobility group AT-hook 1 ISS MouseDO NCBI chr20:5,612,902...5,620,596
Ensembl chr20:5,611,694...5,618,752 		JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21892159 NCBI chr 2:60,179,561...60,204,937
Ensembl chr 2:58,454,217...58,477,757 		JBrowse link
G Jak1 Janus kinase 1 ISO DNA:missense mutation: :c.1972G>T (p.V658F) (human) RGD PMID:18559588 RGD:18936996 NCBI chr 5:120,895,606...121,004,207
Ensembl chr 5:115,780,248...115,888,926 		JBrowse link
G Jak3 Janus kinase 3 ISO RGD PMID:25193870 RGD:11531122 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO DNA:missense mutation: :p.G12D (mouse) RGD PMID:23673656 RGD:11060136 NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Lmo1 LIM domain only 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2034676 PMID:3259177 PMID:19246562 NCBI chr 1:172,567,156...172,603,282
Ensembl chr 1:163,132,339...163,168,522 		JBrowse link
G Lmo2 LIM domain only 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2034676 PMID:19246562 PMID:24394663 NCBI chr 3:110,810,162...110,832,895
Ensembl chr 3:90,365,883...90,377,953 		JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO OMIM NCBI chr19:40,356,967...40,359,834
Ensembl chr19:23,452,140...23,455,007 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MYB-related condition		 CTD
ClinVar		 PMID:17435759 PMID:28492532 PMID:28671688 NCBI chr 1:17,759,309...17,793,306
Ensembl chr 1:15,939,761...15,973,057 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28671688 NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
G Nbn nibrin ISS MouseDO NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:29,459,457...29,494,150 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia		 CTD
ClinVar		 PMID:19246562 PMID:19318552 PMID:21498710 PMID:24394663 PMID:25585350 More... NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO DNA:translocation:cds: (human) RGD PMID:10477737 RGD:9693698 NCBI chr 1:165,906,405...166,003,366
Ensembl chr 1:156,494,423...156,591,415 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO RGD PMID:24486648 RGD:11075087 NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Phf6 PHD finger protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228800 NCBI chr  X:137,576,214...137,619,297
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia ClinVar PMID:11992261 PMID:12161469 PMID:15240615 PMID:16358218 PMID:17020470 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Ptpn2 protein tyrosine phosphatase, non-receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20473312 NCBI chr18:63,498,890...63,564,571
Ensembl chr18:61,229,014...61,294,627 		JBrowse link
G Rpl10 ribosomal protein L10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23263491 NCBI chr  X:157,205,850...157,208,057
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Rpl11 ribosomal protein L11 ISO DNA:missense mutation, frameshift mutation:p.R18P, p.G30fs (human) RGD PMID:23377281 RGD:11535972 NCBI chr 5:153,557,592...153,561,230
Ensembl chr 5:148,274,069...148,277,599 		JBrowse link
G Rpl5 ribosomal protein L5 ISO DNA:snps, insertion, deletion:cds:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23263491 PMID:23263491 RGD:11535135 NCBI chr14:1,988,792...1,995,236
Ensembl chr14:1,843,770...1,850,290 		JBrowse link
G Runx1 RUNX family transcription factor 1 disease_progression ISO RGD PMID:21828118 PMID:16051740 RGD:11251708, RGD:11251682 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28671688 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Spi1 Spi-1 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:28671687 NCBI chr 3:97,529,509...97,548,204
Ensembl chr 3:77,073,012...77,092,393 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23471820 NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chr10:86,205,148...86,276,178
Ensembl chr10:85,705,670...85,775,668 		JBrowse link
G Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 PMID:24394663 NCBI chr 5:133,823,093...133,837,737
Ensembl chr 5:128,587,701...128,600,976 		JBrowse link
G Tcl1a Tcl1 family Akt coactivator A ISO mRNA:increased expression:peripheral blood lymphocyte (human) RGD PMID:10077617 RGD:1599360 NCBI chr 6:129,889,763...129,895,756
Ensembl chr 6:124,125,032...124,131,025 		JBrowse link
G Tlx1 T-cell leukemia, homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20972433 NCBI chr 1:253,954,197...253,960,458
Ensembl chr 1:244,005,057...244,011,318 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23471820 NCBI chr 8:27,918,054...27,943,319
Ensembl chr 8:19,641,884...19,667,044 		JBrowse link
G Zfp36l2 zinc finger protein 36, C3H type-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28671688 NCBI chr 6:16,242,622...16,246,662
Ensembl chr 6:10,490,032...10,494,064 		JBrowse link
T-cell adult acute lymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntn2 contactin 2 ISS MouseDO NCBI chr13:46,497,269...46,528,112
Ensembl chr13:43,947,265...43,975,887 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISS MouseDO NCBI chr 3:49,624,028...49,754,323
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
T-cell large granular lymphocyte leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 PMID:29200404 NCBI chr10:86,205,148...86,276,178
Ensembl chr10:85,705,670...85,775,668 		JBrowse link
T-Cell Lymphoma 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcl1a Tcl1 family Akt coactivator A ISO OMIM NCBI chr 6:129,889,763...129,895,756
Ensembl chr 6:124,125,032...124,131,025 		JBrowse link
T-cell non-Hodgkin lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO RGD PMID:20357822 RGD:11039456 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25658812 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192917 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192917 NCBI chr18:13,868,223...14,040,867
Ensembl chr18:13,593,985...13,762,427 		JBrowse link
G Bcl6 BCL6, transcription repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15375218 NCBI chr11:90,358,753...90,382,049
Ensembl chr11:76,854,090...76,877,389 		JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chr 7:113,341,030...113,358,716
Ensembl chr 7:111,460,656...111,477,973 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:20369488 PMID:16462758 RGD:8547768, RGD:8662844 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192917 NCBI chr  X:12,152,346...12,165,983
Ensembl chr  X:9,479,532...9,493,168 		JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:17420284 RGD:5131859 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192917 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:19506298 RGD:11352666 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Ier3 immediate early response 3 ISO human gene in a mouse model RGD PMID:14534530 RGD:1331843 NCBI chr20:2,933,173...2,934,377
Ensembl chr20:2,928,378...2,929,583 		JBrowse link
G Il13 interleukin 13 ISO RGD PMID:19951958 RGD:8549563 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 treatment ISO RGD PMID:19951958 RGD:8549563 NCBI chr  X:115,814,620...115,886,080
Ensembl chr  X:111,002,592...111,072,381 		JBrowse link
G Il17d interleukin 17D severity ISO RGD PMID:31244826 RGD:40903065 NCBI chr15:35,786,898...35,804,391 JBrowse link
G Jak3 Janus kinase 3 treatment ISO RGD PMID:24153015 RGD:11531129 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kdm1a lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 5:154,066,436...154,121,913
Ensembl chr 5:148,782,976...148,838,319 		JBrowse link
G Kdm2b lysine demethylase 2B IAGP DNA:insertions:promoter:multiple (rat) RGD PMID:18250326 RGD:9588252 NCBI chr12:39,224,422...39,362,126
Ensembl chr12:33,574,657...33,701,355 		JBrowse link
G Kdm4c lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 5:93,146,404...93,353,040
Ensembl chr 5:88,100,733...88,306,818 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192917 NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Mga MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192917 NCBI chr 3:127,300,558...127,396,694
Ensembl chr 3:106,851,140...106,941,043 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255338 NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24584070 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Runx1 RUNX family transcription factor 1 disease_progression ISO RGD PMID:12499254 RGD:11251707 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192917 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192917 NCBI chr10:86,205,148...86,276,178
Ensembl chr10:85,705,670...85,775,668 		JBrowse link
G Tmem260 transmembrane protein 260 disease_progression ISO DNA:SNP: 3'UTR:rs4901706 (human) RGD PMID:24831772 RGD:155882447 NCBI chr15:21,734,119...21,804,049
Ensembl chr15:21,734,151...21,806,801 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26192917 PMID:29438700 PMID:20369488 RGD:8547768 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
T-cell prolymphocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: T-cell prolymphocytic leukemia ClinVar PMID:6504056 PMID:7792600 PMID:8755918 PMID:8797579 PMID:8808599 More... NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: T-cell prolymphocytic leukemia ClinVar PMID:6504056 PMID:7792600 PMID:8755918 PMID:8797579 PMID:8808599 More... NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Jak3 Janus kinase 3 ISO DNA:missense mutations:exon:pM511I, p.R657Q (human) RGD PMID:24446122 RGD:11531125 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chr10:86,205,148...86,276,178
Ensembl chr10:85,705,670...85,775,668 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
testicular lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myd88 MYD88, innate immune signal transduction adaptor ISO associated with diffuse large B-cell lymphoma;DNA:missense mutation:CDS:p.L265P (human) RGD PMID:28868954 RGD:150524335 NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
uveoparotid fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human) RGD PMID:21565911 RGD:5147562 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
X-linked agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ameliorates ISO
ISS		 DNA:mutations:exon, intron:multiple
OMIM:300755
CTD Direct Evidence: marker/mechanism
Human gene in mouse model
human gene in a mouse model
ClinVar Annotator: match by term: X-linked agammaglobulinemia		 MouseDO
CTD
ClinVar
OMIM
RGD		 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 PMID:7627183 More... RGD:11040698, RGD:124715475, RGD:124713551, RGD:11040588 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISS OMIM:300310 | OMIM:300755 MouseDO NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia ClinVar PMID:25741868 NCBI chr  X:102,011,206...102,015,444
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
X-Linked Hypogammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked ClinVar PMID:8758136 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:24550228 PMID:28492532 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:28492532 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:24550228 PMID:28492532 NCBI chr  X:75,149,036...75,155,285
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 More... NCBI chr  X:75,104,040...75,145,247
Ensembl chr  X:71,038,489...71,079,699 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:28492532 NCBI chr  X:75,336,988...75,352,962
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
X-linked lymphoproliferative syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO
ISS		 ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked | ClinVar Annotator: match by term: SH2D1A-related condition
OMIM:308240		 OMIM
ClinVar
MouseDO		 PMID:3374620 PMID:3658675 PMID:9536098 PMID:9771704 PMID:9811875 More... NCBI chr  X:126,239,191...126,267,425 JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 NCBI chr 2:175,610,127...175,616,685
Ensembl chr 2:173,312,253...173,318,810 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:125,756,107...125,803,979
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
X-linked lymphoproliferative syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chr  X:125,103,975...125,369,690
Ensembl chr  X:120,238,534...120,504,096 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chr  X:126,239,191...126,267,425 JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chr  X:125,839,660...125,971,209
Ensembl chr  X:120,974,857...121,105,677 		JBrowse link
G Thoc2 THO complex subunit 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chr  X:125,500,549...125,615,139
Ensembl chr  X:120,634,968...120,749,513 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1543760 PMID:9536098 PMID:16199547 PMID:17080092 PMID:17576681 More... NCBI chr  X:125,756,107...125,803,979
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      primary immunodeficiency disease 4479
        lymphoproliferative syndrome 1137
          Castleman disease + 8
          Granuloma + 33
          Immunoblastic Lymphadenopathy 4
          Lymphangiomyoma + 21
          Lymphoproliferative Syndrome 3 1
          Macrophage Activation Syndrome 3
          Marek Disease 0
          NATURAL KILLER CELL ENTEROPATHY 13
          Tumor Lysis Syndrome 0
          X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 5
          X-linked lymphoproliferative syndrome 1 4
          X-linked lymphoproliferative syndrome 2 5
          agammaglobulinemia + 369
          alpha chain disease 0
          autoimmune lymphoproliferative syndrome + 72
          heavy chain disease + 0
          infectious mononucleosis 8
          lymphoma + 578
          lymphoplasmacytic lymphoma 7
          lymphoproliferative syndrome 1 10
          lymphoproliferative syndrome 2 83
          multiple myeloma + 168
          plasmacytoma + 7
          sarcoidosis + 65
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      Immune & Inflammatory Diseases 5751
        immune system disease 5071
          Immunoproliferative Disorders 1145
            lymphoproliferative syndrome 1137
              Castleman disease + 8
              Granuloma + 33
              Immunoblastic Lymphadenopathy 4
              Lymphangiomyoma + 21
              Lymphoproliferative Syndrome 3 1
              Macrophage Activation Syndrome 3
              Marek Disease 0
              NATURAL KILLER CELL ENTEROPATHY 13
              Tumor Lysis Syndrome 0
              X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 5
              X-linked lymphoproliferative syndrome 1 4
              X-linked lymphoproliferative syndrome 2 5
              agammaglobulinemia + 369
              alpha chain disease 0
              autoimmune lymphoproliferative syndrome + 72
              heavy chain disease + 0
              infectious mononucleosis 8
              lymphoma + 578
              lymphoplasmacytic lymphoma 7
              lymphoproliferative syndrome 1 10
              lymphoproliferative syndrome 2 83
              multiple myeloma + 168
              plasmacytoma + 7
              sarcoidosis + 65
paths to the root