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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 Herpesviridae Infections
associated with kidney transplantation		 RGD PMID:9067691 PMID:16282467 RGD:6482705 RGD:6483039 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582 		JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35534561 NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737 		JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO DNA:deletions RGD PMID:7539157 PMID:15148335 RGD:11049166 RGD:1600310 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO RGD PMID:15718420 RGD:11049481 NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358 		JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:22617429 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL17A interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22617429 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153 		JBrowse link
G ITK IL2 inducible T cell kinase ISO ClinVar Annotator: match by term: Lymphoproliferative disorder ClinVar NCBI chr16:66,010,766...66,082,263
Ensembl chr16:66,010,772...66,082,185 		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 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192 		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 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Duncan disease ClinVar PMID:25741868 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981 		JBrowse link
G SH2D1A SH2 domain containing 1A ISO ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Epstein Barr virus infection familial fatal | ClinVar Annotator: match by term: Lymphoproliferative disorder | ClinVar Annotator: match by term: X-linked lymphoproliferative syndrome ClinVar PMID:3374620 PMID:3658675 PMID:9536098 PMID:9771704 PMID:9811875 More... NCBI chr  X:101,824,602...101,847,265
Ensembl chr  X:101,824,367...101,849,671 		JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Duncan disease ClinVar PMID:25741868 NCBI chr 4:93,282,383...93,293,214
Ensembl chr 4:93,282,413...93,293,205 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:deletion:3' utr:*55_*58delTGTG (human) RGD PMID:16734634 RGD:5684949 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO RGD PMID:22859607 RGD:6892715 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:nonsense mutation RGD PMID:10560675 RGD:1601413 NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Lymphoproliferative disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:101,399,374...101,440,021
Ensembl chr  X:101,399,812...101,440,013 		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 2:76,339,452...76,401,974
Ensembl chr 2:76,339,470...76,401,965 		JBrowse link
G RNF20 ring finger protein 20 disease_progression ISO RGD PMID:23412334 RGD:9831405 NCBI chr 1:243,225,711...243,254,465
Ensembl chr 1:243,225,924...243,254,446 		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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:snps, haplotype:multiple (human)		 CTD
RGD		 PMID:22674224 RGD:8657089 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 treatment ISO DNA:SNPs: :rs717620(human)
DNA:SNP:5'UTR:rs717620(human)		 RGD PMID:24404132 PMID:25007187 RGD:11080959 RGD:11080979 NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,633...111,037,537 		JBrowse link
G ABCG2A ATP binding cassette subfamily G member 2A disease_progression ISO mRNA:increased expression:mononuclear cell: RGD PMID:12100141 PMID:15521915 RGD:11081076 RGD:11081143 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,889,684...130,945,393 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984797 PMID:21898527 NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708 		JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase susceptibility ISO RGD PMID:17065136 RGD:11100012 NCBI chr 1:272,912,239...272,935,316 JBrowse link
G AICDA activation induced cytidine deaminase treatment ISO RGD PMID:19759560 RGD:11039451 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		JBrowse link
G ARID5B AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684603 PMID:19684604 NCBI chr14:65,408,603...65,598,485
Ensembl chr14:65,408,598...65,598,485 		JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 4:98,333,431...98,390,012
Ensembl chr 4:98,333,459...98,389,457 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO OMIM NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140 		JBrowse link
G BCL2 BCL2 apoptosis regulator severity ISO mRNA:increased expression:bone marrow (human) RGD PMID:25982455 RGD:11076595 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		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 chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase ISO OMIM NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103 		JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:22010212 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468 		JBrowse link
G CAST calpastatin ISO protein:increased expresssion:B cell RGD PMID:11264179 RGD:5509822 NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623 		JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:bone marrow (human) RGD PMID:22391157 RGD:11352824 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:9292526 RGD:11352271 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G CD46 CD46 molecule, complement regulatory protein ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:16353080 RGD:11352810 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G CD79B CD79b molecule ISO protein:decreased expression:bone marrow, mononuclear cell (human) RGD PMID:21487112 RGD:11250414 NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,438 		JBrowse link
G CD86 CD86 molecule severity ISO protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) RGD PMID:24283754 RGD:11354967 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310 		JBrowse link
G CDK6 cyclin dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A no_association
disease_progression
susceptibility		 ISO DNA:deletion: :
ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia
DNA:missense mutations:cds:		 RGD
ClinVar		 PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 More... RGD:11057958 RGD:11251764 RGD:11252081 RGD:11252082 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056 		JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684604 NCBI chr 7:75,926,652...75,929,949
Ensembl chr 7:75,927,662...75,929,769 		JBrowse link
G CFB complement factor B ISO DNA:missense mutation:p.R32Q b(human) RGD PMID:6958349 RGD:11041155 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G CREBBP CREB binding protein disease_progression ISO DNA:mutations:multiple RGD PMID:25917266 RGD:11060149 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224 		JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:9250830 RGD:11039038 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753 		JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 severity ISO RGD PMID:8562939 RGD:734840 NCBI chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,335 		JBrowse link
G CYBA cytochrome b-245 alpha chain ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:19222940 RGD:11040545 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility
no_association		 ISO DNA:polymorphism:3"UTR:rs4646903(human)
DNA:polymorphism:3'UTR:3801T>C(human)
DNA:polymorphism:cds:2452C>A(p.T461N)(human)		 RGD PMID:16676594 PMID:22964275 PMID:23725389 RGD:11352714 RGD:11352725 RGD:11352728 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 susceptibility ISO DNA:polymorphisms: :
DNA:SNP,deletion:splice junction,exon:1934G>A(human)		 RGD PMID:11037802 PMID:19593802 RGD:11252111 RGD:11352820 NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,642 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11774269 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817 		JBrowse link
G CYP3A22 cytochrome P450 family 3 subfamily A member 22 susceptibility
disease_progression		 ISO DNA:polymorphism: : RGD PMID:19650988 PMID:22215203 RGD:11353796 RGD:11353805 NCBI chr 3:6,617,256...6,665,179
Ensembl chr 3:6,615,343...6,822,817 		JBrowse link
G DHFR dihydrofolate reductase disease_progression ISO DNA:polymorphisms: :-317A>G, 829C>T (human)
DNA:polymorphisms, haplotype:promoter:		 RGD PMID:9226157 PMID:12972803 PMID:19861437 PMID:22969948 RGD:11039542 RGD:11039543 RGD:11039544 RGD:11039545 NCBI chr 2:89,230,660...89,255,830 JBrowse link
G DNMT3A DNA methyltransferase 3 alpha treatment ISO DNA:mutations:exon, intron:p.R882(human) RGD PMID:25242092 RGD:11041125 NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087 		JBrowse link
G DNTT DNA nucleotidylexotransferase ISO protein:increased activity:peripheral blood,bone marrow: RGD PMID:7020399 RGD:8694149 NCBI chr14:107,750,796...107,784,626
Ensembl chr14:107,750,796...107,784,617 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase no_association
disease_progression		 ISO DNA:SNP: :85T>C (human)
DNA:SNPs: :2194G>A, 1156G>T (human)
DNA:splice-site mutation:intron:IVS14+1G>A (human)		 RGD PMID:26846104 RGD:11098453 NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,414...120,712,459 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chr 7:23,977,683...23,992,673
Ensembl chr 7:23,977,683...23,993,478 		JBrowse link
G ENG endoglin disease_progression ISO RGD PMID:17572488 RGD:11041565 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783 		JBrowse link
G EPHX1 epoxide hydrolase 1 susceptibility
no_association		 ISO DNA:missense mutation, haplotype:exon:p.H139R (human)
DNA:polymorphisms:exon
DNA:SNPs:exon:rs1051740, rs2234922 (human)
DNA:missense mutation, haplotype:exon:p.Y113H (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19593802 PMID:21983886 PMID:22200898 PMID:22930568 RGD:11252110 RGD:11252111 RGD:11252113 RGD:11252114 NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,751,881...13,773,072 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:SNPs: :8092C>A, 19007G>A (human)
DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human)		 RGD PMID:16435384 PMID:16723154 RGD:11252160 RGD:11340204 NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit no_association ISO DNA:haplotype
DNA:missense mutations: :p.D312N, p.K751Q (human)		 RGD PMID:19101034 PMID:21987080 RGD:11252192 RGD:11340201 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G ERG ETS transcription factor ERG ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr13:201,999,237...202,302,572
Ensembl chr13:202,000,995...202,301,368 		JBrowse link
G ETV6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:26102509 NCBI chr 5:60,523,530...60,776,792
Ensembl chr 5:60,523,433...60,776,750 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941 		JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:8429686 RGD:11340211 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666 		JBrowse link
G FAS Fas cell surface death receptor disease_progression ISO protein:increased expression:CD34+ bone marrow cell RGD PMID:9711907 PMID:10500800 RGD:11049148 RGD:11049157 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FGA fibrinogen alpha chain ISO protein:increased expression:serum (human) RGD PMID:25317080 RGD:11040558 NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar
OMIM		 PMID:11290608 PMID:11442493 PMID:14604974 PMID:14670924 PMID:15256420 More... NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358 		JBrowse link
G FPGS folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013492 NCBI chr 1:268,281,298...268,309,397
Ensembl chr 1:268,287,765...268,309,398 		JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35115686 NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 1:272,701,386...272,715,551
Ensembl chr 1:272,702,184...272,715,539 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia OMIM
ClinVar		 PMID:25485910 PMID:25741868 PMID:27108799 PMID:28492532 PMID:32134617 More... NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO RGD PMID:6589021 RGD:11051848 NCBI chr 6:44,038,374...44,069,331
Ensembl chr 6:44,038,357...44,069,328 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:17317918 PMID:24698347 RGD:11352774 RGD:11352812 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433 		JBrowse link
G GSR glutathione-disulfide reductase ISO RGD PMID:24191316 RGD:11059506 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984 		JBrowse link
G H1-2 H1.2 linker histone, cluster member susceptibility ISO DNA:SNP, haplotype:enhancer: (rs807212) (human) RGD PMID:19806355 RGD:10755490 NCBI chr 7:20,743,716...20,744,356
Ensembl chr 7:20,743,716...20,744,356 		JBrowse link
G HCK HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17344919 NCBI chr17:35,708,549...35,751,590
Ensembl chr17:35,709,349...35,751,582 		JBrowse link
G HDAC1 histone deacetylase 1 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411 		JBrowse link
G HDAC2 histone deacetylase 2 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585 		JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO RGD PMID:23948281 RGD:9681454 NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301 		JBrowse link
G HFE homeostatic iron regulator no_association ISO DNA:missense mutation:cds:p.C282Y (human)
DNA:missense mutation: :p.H63D (human)
DNA:missense mutation:cds:p.H63D (human)		 RGD PMID:10627122 PMID:17107905 RGD:10755557 RGD:10755558 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000 		JBrowse link
G HK1 hexokinase 1 ISO protein:decreased activity:platelet RGD PMID:21921332 RGD:11353881 NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,246...72,460,924 		JBrowse link
G HLF HLF transcription factor, PAR bZIP family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr12:31,589,337...31,643,595
Ensembl chr12:31,589,337...31,643,594 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296 		JBrowse link
G IFNG interferon gamma susceptibility ISO DNA:SNP: :rs2069727(human) RGD PMID:21067287 RGD:10755691 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2 ClinVar PMID:25741868 PMID:27993330 PMID:28492532 NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,725...136,464,940 		JBrowse link
G IKZF2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr15:115,512,160...115,677,503
Ensembl chr15:115,512,179...115,677,374 		JBrowse link
G IKZF3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr12:22,466,386...22,562,320
Ensembl chr12:22,466,414...22,562,312 		JBrowse link
G IL10 interleukin 10 treatment ISO protein:decreased expression:blood RGD PMID:15860861 PMID:21653647 RGD:11049158 RGD:11049169 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IRF4 interferon regulatory factor 4 ISO DNA:SNP:intron:rs12203592 (human) RGD PMID:19897031 RGD:11526162 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609 		JBrowse link
G ITPA inosine triphosphatase treatment
no_association		 ISO DNA:SNPs:exon:94C>A, 138G>A (human)
DNA:SNP:intron		 RGD PMID:22009189 RGD:10766474 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784 		JBrowse link
G KDM2B lysine demethylase 2B ISO mRNA:increased expression:bone marrow (human) RGD PMID:21310926 RGD:9588255 NCBI chr14:31,057,121...31,203,093
Ensembl chr14:31,165,950...31,203,091 		JBrowse link
G KDM3B lysine demethylase 3B ISO protein:increased expression:bone marrow, mononuclear cell (human) RGD PMID:22615488 RGD:9586728 NCBI chr 2:140,346,145...140,418,556
Ensembl chr 2:140,346,223...140,418,527 		JBrowse link
G KDM6A lysine demethylase 6A severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chr  X:39,953,764...40,154,197
Ensembl chr  X:39,953,814...40,154,029 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545		 CTD
MouseDO		 PMID:24736461 PMID:25730765 NCBI chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:17910045 PMID:25917266 RGD:11060148 RGD:11060149 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LMO2 LIM domain only 2 ISO OMIM:247640 | OMIM:613065 MouseDO NCBI chr 2:27,033,924...27,055,457
Ensembl chr 2:27,044,763...27,055,453 		JBrowse link
G LOC100739508 glutathione S-transferase P-like no_association
disease_progression
susceptibility		 ISO DNA:polymorphism: :1578 a>G(human)
DNA:haplotype:cds:
DNA:transition mutation:exon:		 RGD PMID:10666194 PMID:15738600 PMID:23979883 RGD:10450829 RGD:10755321 RGD:10755417 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOC110257900 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chr  Y:4,965,886...4,992,529 JBrowse link
G MEFV MEFV innate immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M680I(human) RGD PMID:22942567 RGD:11531121 NCBI chr 3:38,934,573...38,948,609 JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment
disease_progression		 ISO DNA:missense mutation:cds:677C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)		 RGD
CTD		 PMID:16706930 PMID:19923983 PMID:21644011 RGD:10449398 RGD:10449407 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase disease_progression
no_association
susceptibility		 ISO DNA:polymorphism: :66A>G(human)
DNA:polymorphism: :2756A>G(human)
DNA:SNP::rs10925235(human)		 RGD PMID:15159311 PMID:21618417 PMID:22453148 PMID:26605150 RGD:11531136 RGD:11531137 RGD:11531140 RGD:11531141 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:haplotype:cds:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs3776455(human)		 RGD
CTD		 PMID:17136115 PMID:23940529 RGD:11531133 RGD:11531135 NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,228...74,270,783 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:25784651 RGD:11532748 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078 		JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia OMIM
ClinVar		 PMID:9590180 PMID:11325820 PMID:12353271 PMID:14559852 PMID:15338273 More... NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,691...46,874,603 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
disease_progression		 ISO DNA:SNP: :rs3918186(human)
DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)		 RGD PMID:20510681 PMID:23922896 RGD:11533639 RGD:11533646 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G NOTCH3 notch receptor 3 ISO OMIM:247640 | OMIM:613065 MouseDO NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human)
DNA:mutation: :609C>T (human)		 CTD
RGD		 PMID:11774269 PMID:17332311 PMID:18444911 RGD:10769347 RGD:10769359 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase disease_progression ISO DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24076604 NCBI chr 8:938,832...1,018,032
Ensembl chr 8:964,893...1,018,028 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,459...114,145,109 		JBrowse link
G NUP214 nucleoporin 214 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 1:271,103,838...271,210,292
Ensembl chr 1:271,104,033...271,210,288 		JBrowse link
G P2RY8 P2Y receptor family member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194
G PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 4:55,450,824...55,619,226
Ensembl chr 4:55,506,069...55,616,111 		JBrowse link
G PAX5 paired box 5 susceptibility ISO ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3 OMIM
ClinVar		 PMID:24013638 PMID:24728327 PMID:25741868 PMID:27993330 PMID:28492532 More... NCBI chr 1:237,574,938...237,785,454
Ensembl chr 1:237,575,061...237,785,413 		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 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:blood (human) RGD PMID:27275197 RGD:11535025 NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231 		JBrowse link
G PRDM14 PR/SET domain 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043588 NCBI chr 4:65,273,988...65,295,362
Ensembl chr 4:65,271,315...65,295,178 		JBrowse link
G PTEN phosphatase and tensin homolog ISO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr14:99,929,590...100,021,619 JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675 		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 chr 9:64,560,544...64,567,007
Ensembl chr 9:64,560,523...64,567,007 		JBrowse link
G TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor ISO OMIM NCBI chr 6:164,282,242...164,297,636
Ensembl chr 6:164,283,366...164,295,290 		JBrowse link
G TAL2 TAL bHLH transcription factor 2 ISO OMIM NCBI chr 1:246,932,975...246,944,722
Ensembl chr 1:246,933,241...246,942,163 		JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351 		JBrowse link
G TCN2 transcobalamin 2 ISO protein:altered activity:plasma: RGD PMID:8754152 RGD:11059889 NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,502,715...47,515,965 		JBrowse link
G TERT telomerase reverse transcriptase ISO DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human) RGD PMID:15621763 PMID:23066086 RGD:11038654 RGD:11038667 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TM9SF2 transmembrane 9 superfamily member 2 ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:12730115 RGD:2317244 NCBI chr11:68,407,834...68,469,956
Ensembl chr11:68,404,975...68,469,953 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G TPMT thiopurine S-methyltransferase no_association
treatment		 ISO 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
DNA:SNPs: :multiple		 RGD PMID:17164697 PMID:22009189 PMID:24499706 RGD:10766474 RGD:11038720 RGD:11038723 NCBI chr 7:13,821,656...13,846,107
Ensembl chr 7:13,820,866...13,846,012 		JBrowse link
G TTC12 tetratricopeptide repeat domain 12 ISO DNA:hypermethylation:5'end:CpG dinucleotide RGD PMID:17657212 RGD:405866376 NCBI chr 9:40,988,881...41,032,928
Ensembl chr 9:40,988,920...41,046,900 		JBrowse link
G TYMS thymidylate synthetase treatment ISO DNA:repeats: : rs347430033(human) RGD PMID:25007187 RGD:11080979 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578 		JBrowse link
G VPREB1 V-set pre-B cell surrogate light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr14:49,972,058...49,972,768
Ensembl chr14:49,970,340...49,972,741 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 no_association
susceptibility		 ISO DNA:missense mutation: :p.R399Q (human)
DNA:missense mutation: :p.R194W (human)
DNA:missense mutation, haplotype: :p.R399Q (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19101034 PMID:21983886 RGD:11252110 RGD:11252192 NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729 		JBrowse link
Acute Lymphoblastic Leukemia, with Lymphomatous Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:10988075 PMID:11423618 PMID:11853795 PMID:11861307 PMID:11964322 More... NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708 		JBrowse link
G CYP2B6B cytochrome P450 family 2 subfamily B member 6B susceptibility ISO DNA:polymorphism:G15631T RGD PMID:19144407 RGD:6480472 NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,334 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		JBrowse link
G IL7R interleukin 7 receptor ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:22897847 PMID:22955920 NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585 		JBrowse link
G INSL6 insulin like 6 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920 NCBI chr 1:216,792,785...216,820,197
Ensembl chr 1:216,792,787...216,823,479 		JBrowse link
G JAK1 Janus kinase 1 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:20167706 More... NCBI chr 6:147,320,288...147,567,188
Ensembl chr 6:147,429,056...147,567,182 		JBrowse link
G JAK2 Janus kinase 2 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148 		JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: LYMPHOMATOUS ALL ClinVar PMID:10982185 PMID:16843266 PMID:18270328 PMID:20132407 PMID:20372971 More... NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495 		JBrowse link
G LOC110257900 cytokine receptor-like factor 2 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:19907440 PMID:19965641 PMID:20018760 PMID:22368272 NCBI chr  Y:4,965,886...4,992,529 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 chr17:48,039,627...48,054,335
Ensembl chr17:48,039,628...48,054,335 		JBrowse link
G ADA adenosine deaminase 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 Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 OMIM
ClinVar		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245 		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 chr17:47,131,236...47,146,455
Ensembl chr17:47,131,501...47,146,449 		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 chr 4:83,494,266...83,586,887
Ensembl chr 4:83,494,395...83,586,647 		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:28492532 PMID:31921117 NCBI chr 9:45,645,243...45,656,779
Ensembl chr 9:45,645,364...45,704,745 		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 chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		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 chr17:48,339,683...48,471,705
Ensembl chr17:48,339,694...48,413,799 		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 chr17:48,082,480...48,089,971
Ensembl chr17:48,082,448...48,089,971 		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 chr17:47,686,220...47,729,663
Ensembl chr17:47,725,132...47,729,668 		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 chr17:47,994,658...48,017,568
Ensembl chr17:47,994,656...48,017,560 		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 chr17:48,526,692...48,567,665
Ensembl chr17:48,526,700...48,567,657 		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 chr17:46,742,662...46,745,898
Ensembl chr17:46,739,973...46,745,982 		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 chr17:46,709,260...46,733,275
Ensembl chr17:46,709,393...46,737,560 		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 chr17:46,296,577...46,297,461
Ensembl chr17:46,296,577...46,297,461 		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 chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,500 		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 chr17:46,209,956...46,246,696
Ensembl chr17:46,210,150...46,246,674 		JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495 		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 chr17:46,590,302...46,665,326 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 chr17:47,161,488...47,167,193
Ensembl chr17:47,160,774...47,166,382 		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 chr17:47,483,943...47,491,071
Ensembl chr17:47,483,947...47,492,567 		JBrowse link
G LOC100512873 antileukoproteinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,579,081...47,581,861 JBrowse link
G LOC100513767 colostrum trypsin inhibitor-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 chr17:47,755,665...47,759,724 JBrowse link
G LOC100621271 WAP four-disulfide core domain protein 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 chr17:47,899,971...47,901,404
Ensembl chr17:47,888,613...47,901,430 		JBrowse link
G LOC100738050 zinc finger protein 33B 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 chr14:60,977,687...61,030,142 JBrowse link
G LOC100739507 WAP four-disulfide core domain protein 5-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 chr17:47,499,800...47,506,298
Ensembl chr17:47,499,935...47,506,306 		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 chr17:47,617,559...47,631,195
Ensembl chr17:47,617,620...47,630,458 		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 chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		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 chr17:46,256,245...46,287,929
Ensembl chr17:46,256,257...46,287,927 		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 chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		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 chr17:48,231,490...48,263,956
Ensembl chr17:48,231,497...48,263,944 		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 chr17:48,080,035...48,083,176
Ensembl chr17:48,080,048...48,084,027 		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 chr17:48,703,937...48,711,690
Ensembl chr17:48,703,941...48,711,144 		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 chr17:46,673,560...46,686,144
Ensembl chr17:46,673,562...46,686,082 		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 chr17:47,321,259...47,351,905
Ensembl chr17:47,321,264...47,350,556 		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 chr17:48,120,263...48,132,003
Ensembl chr17:48,120,599...48,132,620 		JBrowse link
G PI3 peptidase inhibitor 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 chr17:47,522,402...47,524,451 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 chr17:47,735,339...47,750,052
Ensembl chr17:47,735,088...47,750,195 		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 chr17:46,933,418...47,044,044
Ensembl chr17:47,008,035...47,044,049 		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 chr17:48,089,789...48,101,604
Ensembl chr17:48,089,785...48,101,515 		JBrowse link
G PTI pancreatic trypsin 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 chr17:47,773,060...47,780,746
Ensembl chr17:47,773,060...47,779,703 		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 chr17:46,765,639...46,778,110
Ensembl chr17:46,766,401...46,777,329 		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 2:24,565,447...24,573,853
Ensembl chr 2:24,561,156...24,573,851 		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 chr17:47,631,432...47,642,169
Ensembl chr17:47,628,313...47,641,459 		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 chr17:47,167,302...47,235,237
Ensembl chr17:47,167,305...47,235,386 		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 chr17:47,650,387...47,670,499 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 chr17:46,904,841...46,924,842
Ensembl chr17:46,895,402...46,924,792 		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 chr17:48,192,072...48,230,674
Ensembl chr17:48,192,075...48,230,661 		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 chr17:48,714,180...48,792,280
Ensembl chr17:48,714,183...48,792,141 		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 chr17:48,824,054...48,842,811
Ensembl chr17:48,824,414...48,843,201 		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 chr17:48,512,442...48,525,161
Ensembl chr17:48,512,803...48,525,143 		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 chr17:47,595,804...47,598,364
Ensembl chr17:47,595,803...47,598,387 		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 chr17:48,033,608...48,039,633
Ensembl chr17:48,033,717...48,040,522 		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 chr17:48,078,319...48,079,892
Ensembl chr17:48,077,667...48,079,619 		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 chr17:47,960,786...47,963,417 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 chr17:47,387,594...47,475,705
Ensembl chr17:47,387,600...47,475,718 		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 chr17:47,686,184...47,694,045
Ensembl chr17:47,686,258...47,694,034 		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 chr17:48,025,621...48,026,762
Ensembl chr17:48,024,687...48,028,651 		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 chr17:47,352,144...47,376,571
Ensembl chr17:47,352,160...47,376,503 		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 chr17:46,433,005...46,577,076
Ensembl chr17:46,433,025...46,577,072 		JBrowse link
G TP53RK TP53 regulating kinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,814,402...48,817,984
Ensembl chr17:48,814,703...48,817,824 		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 chr17:47,699,323...47,705,974
Ensembl chr17:47,699,270...47,703,212 		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 chr17:46,884,881...46,906,827
Ensembl chr17:46,884,977...46,902,359 		JBrowse link
G UBE2C ubiquitin conjugating enzyme E2 C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,018,403...48,021,542
Ensembl chr17:48,018,400...48,021,534 		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 chr17:47,907,017...47,914,586
Ensembl chr17:47,909,744...47,915,395 		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 chr17:47,916,541...47,921,851 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 chr17:47,816,452...47,824,087
Ensembl chr17:47,816,452...47,824,087 		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 chr17:47,976,078...47,994,744 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 chr17:47,863,302...47,877,267
Ensembl chr17:47,862,615...47,876,464 		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 chr17:47,891,173...47,898,219
Ensembl chr17:47,891,320...47,894,220 		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 chr17:47,298,020...47,317,826
Ensembl chr17:47,298,044...47,319,285 		JBrowse link
G ZNF335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,132,531...48,153,251
Ensembl chr17:48,132,404...48,153,181 		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 chr17:48,073,236...48,078,314
Ensembl chr17:48,074,402...48,077,702 		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 chr17:48,054,479...48,073,109
Ensembl chr17:48,054,482...48,073,095 		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 chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215 		JBrowse link
G BMP6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chr 7:5,058,817...5,208,868
Ensembl chr 7:5,058,817...5,210,270 		JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:2,145,178...2,266,377
Ensembl chr 3:2,145,178...2,266,355 		JBrowse link
G CCR4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr13:18,860,596...18,865,987
Ensembl chr13:18,860,730...18,865,983 		JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr12:21,857,286...21,869,211
Ensembl chr12:21,857,286...21,872,475 		JBrowse link
G CD163 CD163 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498 		JBrowse link
G CD274 CD274 molecule disease_progression ISO RGD PMID:27418641 RGD:41412177 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724 		JBrowse link
G CD28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935 		JBrowse link
G CD68 CD68 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695 		JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976 		JBrowse link
G CD86 CD86 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310 		JBrowse link
G CSNK1A1 casein kinase 1 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 2:150,612,845...150,662,431
Ensembl chr 2:150,612,077...150,662,284 		JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:34,692,960...34,748,067 JBrowse link
G CSNK2B casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 7:23,781,194...23,787,914
Ensembl chr 7:23,780,362...23,788,678
Ensembl chr 7:23,780,362...23,788,678 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		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:7513372 PMID:17962369 RGD:11049147 RGD:11049453 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FOXP3 forkhead box P3 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23797717 PMID:23962110 RGD:38456007 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 1:77,584,675...77,810,605
Ensembl chr 1:77,585,439...77,810,581 		JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859 		JBrowse link
G GPR183 G protein-coupled receptor 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr11:68,231,851...68,248,627
Ensembl chr11:68,231,224...68,245,751 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr18:46,205,164...46,215,861
Ensembl chr18:46,205,418...46,215,856 		JBrowse link
G ICOS inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,119 		JBrowse link
G IFNA1 interferon, alpha 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20370541 NCBI chr 1:201,515,835...201,516,477
Ensembl chr 1:201,515,809...201,516,488 		JBrowse link
G IFNG interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:8800741 PMID:23962110 RGD:10755707 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IKZF2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr15:115,512,160...115,677,503
Ensembl chr15:115,512,179...115,677,374 		JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:8704212 PMID:23962110 RGD:11049460 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G IL5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G IRF4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609 		JBrowse link
G JAK3 Janus kinase 3 ISO DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495 		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 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,856,999 		JBrowse link
G NOTCH1 notch receptor 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759
G NRAS NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
G PLCG1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:43,810,003...43,844,553
Ensembl chr17:43,810,048...43,844,554 		JBrowse link
G PRKCB protein kinase C beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:21,995,227...22,383,628
Ensembl chr 3:21,995,231...22,383,264 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		JBrowse link
G TAL2 TAL bHLH transcription factor 2 ISO RGD PMID:1763056 RGD:1599285 NCBI chr 1:246,932,975...246,944,722
Ensembl chr 1:246,933,241...246,942,163 		JBrowse link
G TERF2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chr 6:17,605,748...17,631,795
Ensembl chr 6:17,605,763...17,631,721 		JBrowse link
G TLX1 T cell leukemia homeobox 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:1683261 PMID:1717256 RGD:1599439 NCBI chr14:112,206,964...112,213,957
Ensembl chr14:112,207,360...112,213,955 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073 		JBrowse link
G TP73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990 		JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 2:72,327,433...72,391,649
Ensembl chr 2:72,326,716...72,391,648 		JBrowse link
agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLNK B cell linker susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation		 CTD
RGD		 PMID:10583958 RGD:1600518 NCBI chr14:107,630,477...107,715,421
Ensembl chr14:107,625,803...107,715,364 		JBrowse link
G BTK Bruton tyrosine kinase susceptibility ISO DNA:insertions, point mutations
ClinVar Annotator: match by term: Agammaglobulinemia		 RGD
ClinVar		 PMID:8162018 PMID:10352268 RGD:1600526 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573 		JBrowse link
G CD19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,880...18,601,263 		JBrowse link
G CD79A CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:49,996,116...49,999,294
Ensembl chr 6:49,995,765...49,999,340 		JBrowse link
G CD79B CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,438 		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 1:269,209,660...269,238,529
Ensembl chr 1:269,209,693...269,238,521 		JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351 		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:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573 		JBrowse link
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:49,996,116...49,999,294
Ensembl chr 6:49,995,765...49,999,340 		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 2:15,227,850...15,245,679
Ensembl chr 2:15,227,881...15,245,677 		JBrowse link
agammaglobulinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14H22orf15 chromosome 14 C22orf15 homolog ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,924,196...49,926,033
Ensembl chr14:49,923,613...49,926,264 		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 chr14:49,921,600...49,923,529
Ensembl chr14:49,921,595...49,923,526 		JBrowse link
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,871,077...49,875,022
Ensembl chr14:49,871,218...49,877,672 		JBrowse link
G MIF macrophage migration inhibitory factor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068 		JBrowse link
G MMP11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,907,684...49,917,494
Ensembl chr14:49,907,687...49,912,617 		JBrowse link
G SLC2A11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,845,481...49,864,912
Ensembl chr14:49,845,324...49,863,188 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048 		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 chr14:49,924,874...49,929,562
Ensembl chr14:49,925,379...49,929,541 		JBrowse link
agammaglobulinemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 More... NCBI chr 6:49,996,116...49,999,294
Ensembl chr 6:49,995,765...49,999,340 		JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive ClinVar PMID:28492532 NCBI chr 6:50,003,198...50,010,135
Ensembl chr 6:50,000,948...50,010,341 		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 chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215 		JBrowse link
G BLNK B cell linker ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr14:107,630,477...107,715,421
Ensembl chr14:107,625,803...107,715,364 		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 chr14:107,411,853...107,506,054
Ensembl chr14:107,414,080...107,506,045 		JBrowse link
G CCNJ cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr14:107,518,663...107,542,767
Ensembl chr14:107,505,464...107,542,760 		JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr14:107,263,546...107,390,923
Ensembl chr14:107,263,449...107,389,010 		JBrowse link
G TCTN3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr14:107,230,820...107,263,364
Ensembl chr14:107,230,934...107,263,344 		JBrowse link
G ZNF518A zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:25741868 More... NCBI chr14:107,590,080...107,633,917
Ensembl chr14:107,590,598...107,619,768 		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 1:269,209,660...269,238,529
Ensembl chr 1:269,209,693...269,238,521 		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 chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,438 		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 chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609 		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 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351 		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 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351 		JBrowse link
agammaglobulinemia 8B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307 NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351 		JBrowse link
agammaglobulinemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC39A7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30718914 NCBI chr 7:25,242,862...25,247,407
Ensembl chr 7:25,242,971...25,247,404 		JBrowse link
anaplastic large cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16151469 PMID:19503098 PMID:21345110 PMID:22155737 PMID:22920921 More... NCBI chr 3:109,411,146...110,105,755 JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157164
G IRF4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chr 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261581 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908157 PMID:17261581 NCBI chr 6:72,103,309...72,174,882 JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr 9:88,286,911...88,290,131
Ensembl chr 9:88,289,407...88,290,015 		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 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299 		JBrowse link
autoimmune lymphoproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:16199547 PMID:18948840 PMID:22237435 PMID:25741868 More... NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713 		JBrowse link
G ANKRD22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr14:100,747,955...100,772,412
Ensembl chr14:100,747,957...100,772,362 		JBrowse link
G C9H1orf105 chromosome 9 C1orf105 homolog ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 9:114,828,414...114,850,267
Ensembl chr 9:114,814,030...114,851,040 		JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:11973654 PMID:25741868 PMID:27577878 PMID:27872624 PMID:28492532 More... NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933 		JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468 		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 chr 9:116,090,868...116,109,822
Ensembl chr 9:116,090,870...116,109,483 		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 chr14:101,122,318...101,128,622
Ensembl chr14:101,123,398...101,125,593 		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 chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,986...116,140,627 		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 chr 9:114,262,782...114,805,252
Ensembl chr 9:114,262,791...114,797,674 		JBrowse link
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant OMIM
ClinVar		 PMID:1090885 PMID:2149015 PMID:4852259 PMID:7540117 PMID:9028321 More... NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FASLG Fas ligand ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar
OMIM		 PMID:8787672 PMID:9536098 PMID:16627752 PMID:17576681 PMID:17605793 More... NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		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 chr14:101,193,421...101,204,292
Ensembl chr14:101,193,419...101,204,288 		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 PMID:28492532 NCBI chr14:101,237,403...101,249,486
Ensembl chr14:101,237,571...101,249,498 		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 chr14:101,214,730...101,225,169
Ensembl chr14:101,214,710...101,225,164 		JBrowse link
G IFIT5 interferon induced protein with tetratricopeptide repeats 5 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr14:101,254,818...101,266,105
Ensembl chr14:101,263,445...101,267,067 		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 chr 9:116,005,562...116,083,478
Ensembl chr 9:116,005,574...116,083,452 		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 chr14:101,131,372...101,254,739
Ensembl chr14:101,126,257...101,193,614 		JBrowse link
G LIPM lipase family member M ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr14:100,716,038...100,748,916
Ensembl chr14:100,726,480...100,748,300 		JBrowse link
G LOC100156277 lipase member N ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr14:100,678,863...100,710,229
Ensembl chr14:100,691,955...100,710,316 		JBrowse link
G LOC100624136 ankyrin repeat domain-containing protein 45 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 9:115,868,345...115,987,710
Ensembl chr 9:115,948,210...115,987,643 		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 chr 9:114,202,494...114,218,371
Ensembl chr 9:114,202,484...114,218,368 		JBrowse link
G MIR199A-1 microRNA mir-199a-1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 9:114,533,783...114,533,858
Ensembl chr 9:114,533,777...114,533,880 		JBrowse link
G MIR214 microRNA mir-214 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 9:114,527,992...114,528,101
Ensembl chr 9:114,527,990...114,528,101 		JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		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 chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,378...114,098,745 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		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 chr 9:114,824,795...114,827,731
Ensembl chr 9:114,824,802...114,827,413 		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 chr 9:115,857,629...115,868,898
Ensembl chr 9:115,857,644...115,868,892 		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 chr 9:116,204,807...116,292,455
Ensembl chr 9:116,208,799...116,292,381 		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 chr14:100,312,592...100,604,953
Ensembl chr14:100,317,625...100,605,063 		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 chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,670...116,193,201 		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 chr14:101,273,977...101,368,350
Ensembl chr14:101,273,996...101,368,132 		JBrowse link
G STAMBPL1 STAM binding protein like 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr14:100,798,096...100,859,576
Ensembl chr14:100,798,088...100,859,567 		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 chr 9:114,916,957...115,007,979
Ensembl chr 9:114,916,855...115,007,972 		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 chr 9:115,447,438...115,460,649
Ensembl chr 9:115,448,973...115,460,950 		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 chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,569...115,659,263 		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 chr 9:114,138,350...114,174,996
Ensembl chr 9:114,138,330...114,174,979 		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 chr 9:116,149,234...116,179,437
Ensembl chr 9:116,149,293...116,181,689 		JBrowse link
autoimmune lymphoproliferative syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2A OMIM
ClinVar		 PMID:9536098 PMID:10412980 PMID:11973654 PMID:16199547 PMID:16446975 More... NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933 		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 chr15:106,776,627...106,903,889
Ensembl chr15:106,776,631...106,900,333 		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 chr15:105,328,717...105,401,152
Ensembl chr15:105,328,719...105,401,093 		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 chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730 		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 chr15:105,159,814...105,250,918
Ensembl chr15:105,105,234...105,250,563 		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 chr15:106,410,245...106,482,502
Ensembl chr15:106,410,491...106,466,799 		JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933 		JBrowse link
G CASP8 caspase 8 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B | ClinVar Annotator: match by term: Caspase-8 deficiency OMIM
ClinVar		 PMID:9536098 PMID:11343122 PMID:12353035 PMID:12577056 PMID:15601643 More... NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468 		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 chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935 		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 chr15:105,401,170...105,506,112
Ensembl chr15:105,401,165...105,506,114 		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 chr15:104,780,744...104,835,631
Ensembl chr15:104,781,616...104,835,630 		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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G CYP20A1 cytochrome P450 family 20 subfamily A member 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 chr15:106,696,722...106,763,126
Ensembl chr15:106,696,717...106,765,131 		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 chr15:106,183,217...106,284,318
Ensembl chr15:106,183,205...106,284,313 		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 chr15:104,950,504...104,986,350
Ensembl chr15:104,942,349...104,985,722 		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 chr15:105,644,164...105,648,860
Ensembl chr15:105,644,188...105,648,850 		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 chr15:106,293,936...106,377,573
Ensembl chr15:106,295,934...106,377,579 		JBrowse link
G ICOS inducible T cell costimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,119 		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 chr15:105,277,295...105,319,936
Ensembl chr15:105,277,073...105,323,578 		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 chr15:106,516,002...106,686,685
Ensembl chr15:106,517,304...106,680,337 		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 chr15:104,747,835...104,759,137
Ensembl chr15:104,747,678...104,759,139 		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 chr15:105,893,589...105,930,458
Ensembl chr15:105,893,637...105,930,459 		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 chr15:106,900,826...106,997,795 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 chr15:105,055,218...105,083,429
Ensembl chr15:105,055,274...105,126,927 		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 chr15:105,820,237...105,850,099
Ensembl chr15:105,818,858...105,850,233 		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 chr15:105,255,485...105,276,624
Ensembl chr15:105,252,479...105,276,970 		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 chr15:104,991,261...105,056,054
Ensembl chr15:104,991,726...105,055,025 		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 chr15:106,380,748...106,410,723
Ensembl chr15:106,380,755...106,410,416 		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 chr13:35,290,835...35,323,245
Ensembl chr13:35,290,610...35,323,356 		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 chr13:35,196,844...35,257,806
Ensembl chr13:35,207,145...35,257,795 		JBrowse link
autoimmune lymphoproliferative syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 4 | ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder OMIM
ClinVar		 PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder OMIM
ClinVar		 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 More... NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		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 chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		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 chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		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 chr15:106,776,627...106,903,889
Ensembl chr15:106,776,631...106,900,333 		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 chr15:105,328,717...105,401,152
Ensembl chr15:105,328,719...105,401,093 		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 chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730 		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 chr15:105,159,814...105,250,918
Ensembl chr15:105,105,234...105,250,563 		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 chr15:106,410,245...106,482,502
Ensembl chr15:106,410,491...106,466,799 		JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933 		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 chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468 		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 chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935 		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 chr15:105,401,170...105,506,112
Ensembl chr15:105,401,165...105,506,114 		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 chr15:104,780,744...104,835,631
Ensembl chr15:104,781,616...104,835,630 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V | ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION | ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION ClinVar
OMIM		 PMID:8817351 PMID:9259273 PMID:9398726 PMID:9536098 PMID:10189842 More... NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G CYP20A1 cytochrome P450 family 20 subfamily A member 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 chr15:106,696,722...106,763,126
Ensembl chr15:106,696,717...106,765,131 		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 chr15:106,183,217...106,284,318
Ensembl chr15:106,183,205...106,284,313 		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 chr15:104,950,504...104,986,350
Ensembl chr15:104,942,349...104,985,722 		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 chr15:105,644,164...105,648,860
Ensembl chr15:105,644,188...105,648,850 		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 chr15:106,293,936...106,377,573
Ensembl chr15:106,295,934...106,377,579 		JBrowse link
G ICOS inducible T cell costimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,119 		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 chr15:105,277,295...105,319,936
Ensembl chr15:105,277,073...105,323,578 		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 chr15:106,516,002...106,686,685
Ensembl chr15:106,517,304...106,680,337 		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 chr15:104,747,835...104,759,137
Ensembl chr15:104,747,678...104,759,139 		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 chr15:105,893,589...105,930,458
Ensembl chr15:105,893,637...105,930,459 		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 chr15:106,900,826...106,997,795 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 chr15:105,055,218...105,083,429
Ensembl chr15:105,055,274...105,126,927 		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 chr15:105,820,237...105,850,099
Ensembl chr15:105,818,858...105,850,233 		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 chr15:105,255,485...105,276,624
Ensembl chr15:105,252,479...105,276,970 		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 chr15:104,991,261...105,056,054
Ensembl chr15:104,991,726...105,055,025 		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 chr15:106,380,748...106,410,723
Ensembl chr15:106,380,755...106,410,416 		JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNFRSF11A TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 OMIM
ClinVar		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chr 1:159,128,039...159,187,476
Ensembl chr 1:159,128,038...159,187,481 		JBrowse link
B-cell acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia ClinVar PMID:23623386 PMID:25741868 NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151 		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 chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969 		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 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997 		JBrowse link
B-Cell Chronic Lymphocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2A ATP binding cassette subfamily G member 2A susceptibility ISO DNA:SNPs,haplotype: :rs1481012,rs2231142(human) RGD PMID:21918980 RGD:11080977 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,889,684...130,945,393 		JBrowse link
G ACOXL acyl-CoA oxidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:45,202,875...45,563,062
Ensembl chr 3:45,203,195...45,538,220 		JBrowse link
G AICDA activation induced cytidine deaminase disease_progression ISO RGD PMID:21133730 RGD:11039455 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		JBrowse link
G APOE apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552 		JBrowse link
G BCL11A BCL11 transcription factor A ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,382 		JBrowse link
G BCL2 BCL2 apoptosis regulator no_association
treatment
severity		 ISO CTD Direct Evidence: marker/mechanism
DNA:snp:promoter:g.-938C>A (human)
protein:increased expression:B cell (human)		 CTD
RGD		 PMID:16960146 PMID:17296974 PMID:17959858 PMID:20001236 PMID:21750559 More... RGD:11522735 RGD:11526104 RGD:11526105 RGD:11526110 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G BMF Bcl2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 1:131,178,021...131,199,668
Ensembl chr 1:131,178,315...131,200,393 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12068308 PMID:12198537 PMID:12692057 PMID:12960123 PMID:14612909 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G BTK Bruton tyrosine kinase treatment ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia RGD
ClinVar		 PMID:23045577 PMID:24869598 PMID:25741868 PMID:28492532 RGD:11040699 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573 		JBrowse link
G CBL Cbl proto-oncogene severity ISO mRNA,protein:increased expression:CD5+ B cell:
DNA:hypophosphorylation:CD5+ B cell:		 RGD PMID:17804547 RGD:11038803 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G CCDC50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr13:128,619,223...128,690,964
Ensembl chr13:128,619,230...128,690,649 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
G CD40LG CD40 ligand ISO mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G CD5 CD5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 2:10,648,973...10,673,479
Ensembl chr 2:10,648,974...10,673,919 		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:10090943 PMID:10552962 RGD:11250403 RGD:151665190 RGD:151665202 NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,438 		JBrowse link
G CD86 CD86 molecule severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310 		JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 7:52,329,054...52,382,408
Ensembl chr 7:52,304,472...52,383,732 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO protein:increased expression:T cell RGD PMID:15914560 PMID:16094420 RGD:11344923 RGD:11352246 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO RGD PMID:18077792 RGD:11251735 NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit severity ISO DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:19484764 PMID:22739018 RGD:11252203 RGD:11252204 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr15:140,060,304...140,144,059
Ensembl chr15:140,060,372...140,144,037 		JBrowse link
G FAS Fas cell surface death receptor disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:25741868 PMID:26619011 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,844...76,699,348 		JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa no_association ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14563637 RGD:11352260 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G GNAS GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G IFNG interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL10 interleukin 10 disease_progression
no_association		 ISO DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
protein:increased expression:serum
DNA:SNPs: :multiple		 RGD PMID:10638947 PMID:19573080 PMID:22945689 RGD:11041895 RGD:11049165 RGD:11049174 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 9:67,469,519...67,479,597
Ensembl chr 9:67,469,524...67,479,813 		JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma:		 CTD
RGD		 PMID:10870116 PMID:18006695 RGD:11522755 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G IRF4 interferon regulatory factor 4 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:12079517 PMID:12393648 PMID:18758461 RGD:11526160 RGD:11530024 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609 		JBrowse link
G ITGA4 integrin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chr15:86,942,054...87,028,428
Ensembl chr15:86,947,240...87,030,364 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 8:113,824,511...113,944,078
Ensembl chr 8:113,825,161...113,944,070 		JBrowse link
G LOC100737977 tumor necrosis factor receptor superfamily member 10B-like susceptibility ISO DNA:SNP: :1322A>G (human)
DNA:missense mutation:cds:p.E228A (c.683A>C) (human)		 RGD PMID:15531454 PMID:16217763 RGD:11038717 RGD:11038718 NCBI chr14:7,344,788...7,371,086 JBrowse link
G LOC110258578 interleukin-1 beta-like severity ISO DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:		 RGD PMID:10870116 PMID:18271063 RGD:11051967 RGD:11522755
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		JBrowse link
G MIR143 microRNA mir-143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 2:150,578,738...150,578,817
Ensembl chr 2:150,578,738...150,578,817 		JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211 		JBrowse link
G MS4A1 membrane spanning 4-domains A1 ISO RGD PMID:19911856 RGD:2316994 NCBI chr 2:11,216,238...11,229,060
Ensembl chr 2:11,215,901...11,222,914 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
G P2RX7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chr14:31,415,188...31,476,502
Ensembl chr14:31,415,193...31,476,472 		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 chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293 		JBrowse link
G PLCG2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:24869598 PMID:28492532 NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060 		JBrowse link
G PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 1:161,184,458...161,188,138
Ensembl chr 1:161,182,887...161,188,164 		JBrowse link
G POLB DNA polymerase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr17:11,356,130...11,388,122
Ensembl chr17:11,356,129...11,388,821 		JBrowse link
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780
G PRAME PRAME nuclear receptor transcriptional regulator ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231 		JBrowse link
G PRKD2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 6:52,559,066...52,599,174
Ensembl chr 6:52,559,393...52,599,132 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G QPCT glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:102,795,199...102,823,090
Ensembl chr 3:102,792,720...102,823,026 		JBrowse link
G RBL2 RB transcriptional corepressor like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr 6:31,757,718...31,802,047
Ensembl chr 6:31,748,739...31,802,022 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:23634996 PMID:25741868 PMID:26619011 NCBI chr15:101,274,968...101,338,018
Ensembl chr15:101,276,851...101,299,105 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:26619011 NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,049...6,294,639 		JBrowse link
G SP140 SP140 nuclear body protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr15:131,225,305...131,292,172
Ensembl chr15:131,226,626...131,292,170 		JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO RGD PMID:17344921 RGD:11038662 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276 		JBrowse link
G THBD thrombomodulin ISO RGD PMID:21812019 RGD:5685033 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099 		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 chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr 1:159,128,039...159,187,476
Ensembl chr 1:159,128,038...159,187,481 		JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,468,110...24,505,477 		JBrowse link
G TNFSF13 TNF superfamily member 13 ISO protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chr12:52,853,646...52,857,033
Ensembl chr12:52,853,904...52,857,029 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073 		JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr13:74,768,251...74,846,377
Ensembl chr13:74,768,257...74,846,340 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO DNA:deletion: :
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic		 RGD
ClinVar		 PMID:253702 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 More... RGD:11075074 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G VDR vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
G XPO1 exportin 1 ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:26619011 NCBI chr 3:80,255,016...80,300,260
Ensembl chr 3:80,255,146...80,300,327 		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 RGD:11252204 NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729 		JBrowse link
B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2A ATP binding cassette subfamily G member 2A susceptibility ISO DNA:SNP: :rs6857600(human) RGD PMID:21918980 RGD:11080977 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,889,684...130,945,393 		JBrowse link
G AICDA activation induced cytidine deaminase ISO RGD PMID:17251349 RGD:11039449 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		JBrowse link
G BCL2L2 BCL2 like 2 disease_progression ISO RGD PMID:28094768 RGD:14394511 NCBI chr 7:75,765,603...75,770,743
Ensembl chr 7:75,763,078...75,769,763 		JBrowse link
G BCL6 BCL6 transcription repressor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chr13:125,377,247...125,401,328
Ensembl chr13:125,377,250...125,393,330 		JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,152,043...25,162,578 		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:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573 		JBrowse link
G CBX7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chr 5:9,070,312...9,090,467
Ensembl chr 5:9,070,353...9,087,634 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO RGD PMID:8469286 RGD:10450244 NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11042651 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753 		JBrowse link
G EAF2 ELL associated factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20564326 NCBI chr13:138,632,541...138,681,607
Ensembl chr13:138,648,270...138,681,613 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity
treatment		 ISO RGD
MouseDO		 PMID:23982173 PMID:29456795 RGD:10755356 RGD:126781726 NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941 		JBrowse link
G IL21R interleukin 21 receptor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152 		JBrowse link
G JAK3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24837469 NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495 		JBrowse link
G KAT5 lysine acetyltransferase 5 severity ISO RGD PMID:17728759 RGD:9588481 NCBI chr 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466 		JBrowse link
G LGALS1 galectin 1 ISO protein:increased expression:primary tumor (rat) RGD PMID:16733672 RGD:2316550 NCBI chr 5:10,149,069...10,152,514
Ensembl chr 5:10,149,068...10,156,023 		JBrowse link
G MIR143 microRNA mir-143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 2:150,578,738...150,578,817
Ensembl chr 2:150,578,738...150,578,817 		JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14633661 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14654083 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chr17:52,017,100...52,086,747
Ensembl chr17:52,017,130...52,086,736 		JBrowse link
G STAT5A signal transducer and activator of transcription 5A ISO RGD PMID:27018255 RGD:151665817 NCBI chr12:20,474,221...20,498,785
Ensembl chr12:20,474,227...20,499,138 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073 		JBrowse link
G TNFSF9 TNF superfamily member 9 ISO RGD PMID:10202049 RGD:2317349 NCBI chr 2:72,578,811...72,582,834
Ensembl chr 2:72,578,821...72,582,745 		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 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943 		JBrowse link
G AKR1C1 aldo-keto reductase family 1, member C1 treatment ISO RGD PMID:26116659 RGD:11541128 NCBI chr10:65,580,297...65,594,998
Ensembl chr10:65,576,464...65,678,248 		JBrowse link
G ATF7IP activating transcription factor 7 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 5:58,022,734...58,149,980
Ensembl chr 5:58,022,741...58,133,399 		JBrowse link
G BCL2L1 BCL2 like 1 severity ISO RGD PMID:18216295 RGD:11531108 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase ISO BCR/ABL fusion RGD PMID:9310467 RGD:41404633 NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103 		JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,152,043...25,162,578 		JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24154679 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691 		JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:B cell (mouse) RGD PMID:23169640 RGD:11353783 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A susceptibility
treatment		 ISO DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human) RGD PMID:16618932 PMID:21622646 PMID:26104880 RGD:11057958 RGD:11251751 RGD:11251772 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CYP3A22 cytochrome P450 family 3 subfamily A member 22 treatment ISO DNA:polymorphisms: : RGD PMID:21225912 RGD:11353807 NCBI chr 3:6,617,256...6,665,179
Ensembl chr 3:6,615,343...6,822,817 		JBrowse link
G ETV6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836 PMID:24413735 PMID:25807284 NCBI chr 5:60,523,530...60,776,792
Ensembl chr 5:60,523,433...60,776,750 		JBrowse link
G F13A1 coagulation factor XIII A chain ISO protein:increased expression:B lymphoblast: RGD PMID:16894461 RGD:11041855 NCBI chr 7:3,751,290...3,900,797
Ensembl chr 7:3,751,292...3,900,762 		JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666 		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 chr10:12,404,143...12,431,843
Ensembl chr10:12,404,176...12,431,824 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO mRNA,protein:increased expression:bone marrow: RGD PMID:8562934 RGD:11049466 NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358 		JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859 		JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 disease_progression ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:22699455 PMID:24141364 RGD:11075072 NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,725...136,464,940 		JBrowse link
G IL5 interleukin 5 ISO RGD PMID:15368290 RGD:7241068 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212 		JBrowse link
G IRF4 interferon regulatory factor 4 ISO RGD PMID:20585039 PMID:21818355 PMID:25006123 RGD:11526159 RGD:11530020 RGD:11530030 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609 		JBrowse link
G IRF8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406 		JBrowse link
G ISX intestine specific homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267
G LOC110257900 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr  Y:4,965,886...4,992,529 JBrowse link
G MGA MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 1:129,590,645...129,697,434
Ensembl chr 1:129,594,795...129,697,408 		JBrowse link
G MYB MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:cds: RGD PMID:21853052 RGD:11532669 NCBI chr 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,856,999 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22120021 RGD:7207416 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078 		JBrowse link
G PAX5 paired box 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24013638 PMID:30643249 NCBI chr 1:237,574,938...237,785,454
Ensembl chr 1:237,575,061...237,785,413 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha treatment ISO RGD PMID:22447844 RGD:11075097 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441 		JBrowse link
G RB1 RB transcriptional corepressor 1