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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:hematologic cancer
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Accession:DOID:2531 term browser browse the term
Definition:An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. (DO)
Synonyms:exact_synonym: blood cancer;   hematologic malignancies;   hematologic malignancy;   hematological malignancies;   hematological malignancy;   hematological tumors;   hematopoietic and lymphoid system tumor;   hematopoietic cancer;   hematopoietic tumors;   malignant hematopoietic neoplasm
 xref: NCI:C27134
For additional species annotation, visit the Alliance of Genome Resources.


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hematologic cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Hematological malignancies ClinVar PMID:7479840 PMID:7513208 PMID:7691885 PMID:8589724 PMID:9657776 More... NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 ameliorates ISO DNA:missense mutation:CDS:p.H27R (human) RGD PMID:21984221 RGD:10449413 NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752 		JBrowse link
G TP53 tumor protein p53 ISO DNA:missense mutation::p.R337H (human) RGD PMID:28387921 RGD:14995484 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		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 chr19:1,173,915...1,243,633
Ensembl chr19:2,147,031...2,210,039 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO OMIM NCBI chr11:113,273,198...113,364,404 JBrowse link
G RNF20 ring finger protein 20 disease_progression ISO RGD PMID:23412334 RGD:9831405 NCBI chr 9:72,738,132...72,767,868
Ensembl chr 9:100,732,342...100,761,258 		JBrowse link
Acute Erythroleukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX41 DEAD-box helicase 41 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr 5:172,812,755...172,818,217
Ensembl chr 5:179,873,626...179,884,402 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326 		JBrowse link
G HOXB9 homeobox B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr17:8,910,421...8,916,128
Ensembl chr17:9,095,438...9,100,747 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr11:113,273,198...113,364,404 JBrowse link
G NPM1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr 5:166,735,904...166,756,321
Ensembl chr 5:173,490,197...173,510,656 		JBrowse link
G NUP98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr11:3,553,379...3,669,367
Ensembl chr11:3,661,568...3,767,443 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		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:9195225 PMID:15982307 PMID:22234153 PMID:23221806 More... NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 susceptibility ISO DNA:snps, haplotype:multiple (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:22674224 RGD:8657089 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238 		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 chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270 		JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) disease_progression ISO mRNA:increased expression:mononuclear cell: RGD PMID:12100141 PMID:15521915 RGD:11081076 RGD:11081143 NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157 		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 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941 		JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase susceptibility ISO RGD PMID:17065136 RGD:11100012 NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324 		JBrowse link
G AICDA activation induced cytidine deaminase treatment ISO RGD PMID:19759560 RGD:11039451 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917 		JBrowse link
G ARID5B AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684603 PMID:19684604 NCBI chr10:58,426,519...58,621,986
Ensembl chr10:60,756,484...60,952,174 		JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 1:126,160,017...126,226,222
Ensembl chr 1:129,809,431...129,875,629 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468 		JBrowse link
G BCL2 BCL2 apoptosis regulator severity ISO mRNA:increased expression:bone marrow (human) RGD PMID:25982455 RGD:11076595 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		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 chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
G CASP8 caspase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:22010212 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468 		JBrowse link
G CAST calpastatin ISO protein:increased expresssion:B cell RGD PMID:11264179 RGD:5509822 NCBI chr 5:91,972,572...92,084,657
Ensembl chr 5:97,527,071...97,636,650 		JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:bone marrow (human) RGD PMID:22391157 RGD:11352824 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:9292526 RGD:11352271 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202 		JBrowse link
G CD46 CD46 molecule ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:16353080 RGD:11352810 NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046 		JBrowse link
G CD79B CD79b molecule ISO protein:decreased expression:bone marrow, mononuclear cell (human) RGD PMID:21487112 RGD:11250414 NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335 		JBrowse link
G CD86 CD86 molecule severity ISO protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) RGD PMID:24283754 RGD:11354967 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339 		JBrowse link
G CDK6 cyclin dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 NCBI chr 7:84,603,419...84,835,082 JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression
no_association
susceptibility		 ISO CTD Direct Evidence: marker/mechanism
DNA:deletion: :
DNA:missense mutations:cds:		 CTD
RGD		 PMID:9204978 PMID:10090949 PMID:20453839 PMID:25675863 PMID:26104880 RGD:11057958 RGD:11251764 RGD:11252081 RGD:11252082 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684604 NCBI chr14:3,937,200...3,939,112
Ensembl chr14:22,033,654...22,035,219 		JBrowse link
G CFB complement factor B ISO DNA:missense mutation:p.R32Q b(human) RGD PMID:6958349 RGD:11041155 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G CREBBP CREB binding protein disease_progression ISO DNA:mutations:multiple RGD PMID:25917266 RGD:11060149 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206 		JBrowse link
G CRLF2 cytokine receptor like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chr  X:933,459...957,950 JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:9250830 RGD:11039038 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729 		JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 severity ISO RGD PMID:8562939 RGD:734840 NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility
no_association		 ISO DNA:polymorphism:3"UTR:rs4646903(human)
DNA:polymorphism:cds:2452C>A(p.T461N)(human)
DNA:polymorphism:3'UTR:3801T>C(human)		 RGD PMID:16676594 PMID:22964275 PMID:23725389 RGD:11352714 RGD:11352725 RGD:11352728 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824 		JBrowse link
G CYP2C8 cytochrome P450 family 2 subfamily C member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr10:91,646,387...91,679,998
Ensembl chr10:95,157,661...95,186,620 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11774269 Ensembl chr10:134,839,025...134,852,719 JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 susceptibility
disease_progression		 ISO DNA:polymorphism: : RGD PMID:19650988 PMID:22215203 RGD:11353796 RGD:11353805 NCBI chr 7:91,621,561...91,654,164
Ensembl chr 7:105,123,437...105,155,322 		JBrowse link
G DHFR dihydrofolate reductase disease_progression ISO DNA:polymorphisms, haplotype:promoter:
DNA:polymorphisms: :-317A>G, 829C>T (human)		 RGD PMID:9226157 PMID:12972803 PMID:19861437 PMID:22969948 RGD:11039542 RGD:11039543 RGD:11039544 RGD:11039545 NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha treatment ISO DNA:mutations:exon, intron:p.R882(human) RGD PMID:25242092 RGD:11041125 NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605 		JBrowse link
G DNTT DNA nucleotidylexotransferase ISO protein:increased activity:peripheral blood,bone marrow: RGD PMID:7020399 RGD:8694149 NCBI chr10:92,916,783...92,958,216
Ensembl chr10:96,423,819...96,457,742 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase disease_progression
no_association		 ISO DNA:splice-site mutation:intron:IVS14+1G>A (human)
DNA:SNPs: :2194G>A, 1156G>T (human)
DNA:SNP: :85T>C (human)		 RGD PMID:26846104 RGD:11098453 NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chr 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564 		JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chr 6:31,542,946...31,560,894
Ensembl chr 6:32,429,271...32,451,844 		JBrowse link
G ENG endoglin disease_progression ISO RGD PMID:17572488 RGD:11041565 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641 		JBrowse link
G EPHX1 epoxide hydrolase 1 susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:rs1051740, rs2234922 (human)
DNA:missense mutation, haplotype:exon:p.Y113H (human)
DNA:polymorphisms:exon
DNA:missense mutation, haplotype:exon:p.H139R (human)		 CTD
RGD		 PMID:19593802 PMID:21983886 PMID:22200898 PMID:22930568 RGD:11252110 RGD:11252111 RGD:11252113 RGD:11252114 NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581 		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 chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430 		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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G ERG ETS transcription factor ERG ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776115 NCBI chr21:24,737,829...25,016,378
Ensembl chr21:38,087,339...38,281,403 		JBrowse link
G ETV6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537 		JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:8429686 RGD:11340211 NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050 		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 chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G FGA fibrinogen alpha chain ISO protein:increased expression:serum (human) RGD PMID:25317080 RGD:11040558 NCBI chr 4:146,949,680...146,957,291 JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 susceptibility ISO ClinVar Annotator: match by term: Acute lymphoid leukemia OMIM
ClinVar		 PMID:11290608 PMID:11442493 PMID:14604974 PMID:14670924 PMID:15256420 More... NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940 		JBrowse link
G FPGS folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013492 NCBI chr 9:98,921,986...98,933,542
Ensembl chr 9:127,593,592...127,604,200 		JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35115686 NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326 		JBrowse link
G GNB1 G protein subunit beta 1 susceptibility ISO ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia OMIM
ClinVar		 PMID:25485910 PMID:25741868 PMID:27108799 PMID:28492532 PMID:32134617 NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO RGD PMID:6589021 RGD:11051848 NCBI chr19:31,301,469...31,355,362
Ensembl chr19:40,024,584...40,080,598 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:17317918 PMID:24698347 RGD:11352774 RGD:11352812 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		JBrowse link
G GSR glutathione-disulfide reductase ISO RGD PMID:24191316 RGD:11059506 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 disease_progression
susceptibility
no_association		 ISO RGD PMID:10666194 PMID:12827651 PMID:14607752 PMID:15738600 RGD:10450829 RGD:10755321 RGD:10755409 RGD:10755410 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G GSTP1 glutathione S-transferase pi 1 disease_progression
no_association
susceptibility		 ISO DNA:haplotype:cds:
DNA:polymorphism: :1578 a>G(human)
DNA:transition mutation:exon:		 RGD PMID:10666194 PMID:15738600 PMID:23979883 RGD:10450829 RGD:10755321 RGD:10755417 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472 		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 6:25,891,079...25,891,859
Ensembl chr 6:26,549,016...26,549,657 		JBrowse link
G HCK HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17344919 NCBI chr20:28,346,244...28,395,370
Ensembl chr20:29,474,737...29,523,399 		JBrowse link
G HDAC1 histone deacetylase 1 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410 		JBrowse link
G HDAC2 histone deacetylase 2 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004 		JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO RGD PMID:23948281 RGD:9681454 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054 		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 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591 		JBrowse link
G HK1 hexokinase 1 ISO protein:decreased activity:platelet RGD PMID:21921332 RGD:11353881 NCBI chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045 		JBrowse link
G HLF HLF transcription factor, PAR bZIP family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr17:49,353,790...49,413,676
Ensembl chr17:54,218,399...54,278,044 		JBrowse link
G HOXD4 homeobox D4 ISO ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to ClinVar PMID:15776434 NCBI chr2B:63,429,084...63,432,972 JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175 		JBrowse link
G IFNG interferon gamma susceptibility ISO DNA:SNP: :rs2069727(human) RGD PMID:21067287 RGD:10755691 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2 ClinVar NCBI chr 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245 		JBrowse link
G IKZF2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr2B:100,255,430...100,407,395
Ensembl chr2B:218,737,506...218,882,087 		JBrowse link
G IL10 interleukin 10 treatment ISO protein:decreased expression:blood RGD PMID:15860861 PMID:21653647 RGD:11049158 RGD:11049169 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G IRF4 interferon regulatory factor 4 ISO DNA:SNP:intron:rs12203592 (human) RGD PMID:19897031 RGD:11526162 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654 		JBrowse link
G ITPA inosine triphosphatase no_association
treatment		 ISO DNA:SNP:intron
DNA:SNPs:exon:94C>A, 138G>A (human)		 RGD PMID:22009189 RGD:10766474 NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924 		JBrowse link
G KDM2B lysine demethylase 2B ISO mRNA:increased expression:bone marrow (human) RGD PMID:21310926 RGD:9588255 NCBI chr12:119,027,633...119,183,779
Ensembl chr12:122,401,296...122,555,246 		JBrowse link
G KDM3B lysine demethylase 3B ISO protein:increased expression:bone marrow, mononuclear cell (human) RGD PMID:22615488 RGD:9586728 NCBI chr 5:133,732,400...133,816,988
Ensembl chr 5:139,863,922...139,947,895 		JBrowse link
G KDM6A lysine demethylase 6A severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chr  X:37,313,000...37,548,630
Ensembl chr  X:45,127,382...45,362,029 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 PMID:25730765 NCBI chr11:113,273,198...113,364,404 JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:17910045 PMID:25917266 RGD:11060148 RGD:11060149 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LOC100971425 somatotropin treatment ISO RGD PMID:2494952 RGD:11352727 NCBI chr17:58,010,848...58,013,421 JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphisms, haplotypes:cds:multiple
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)		 RGD PMID:9744491 PMID:22434102 RGD:11041749 RGD:11041762 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		JBrowse link
G LOC100975642 zinc finger protein Aiolos ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr17:17,459,438...17,498,452
Ensembl chr17:17,643,750...17,741,479 		JBrowse link
G LOC100986914 cytochrome b-245 light chain ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:19222940 RGD:11040545 NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719 		JBrowse link
G MEFV MEFV innate immuity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M680I(human) RGD PMID:22942567 RGD:11531121 NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970 		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 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility
disease_progression
no_association		 ISO DNA:polymorphism: :2756A>G(human)
DNA:SNP::rs10925235(human)
DNA:polymorphism: :66A>G(human)		 RGD PMID:15159311 PMID:21618417 PMID:22453148 PMID:26605150 RGD:11531136 RGD:11531137 RGD:11531140 RGD:11531141 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs3776455(human)
DNA:haplotype:cds:		 CTD
RGD		 PMID:17136115 PMID:23940529 RGD:11531133 RGD:11531135 NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:25784651 RGD:11532748 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility
no_association		 ISO DNA:polymorphisms: :
DNA:polymorphisms,haplotype: :
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21888617 PMID:22200898 PMID:22215203 PMID:25804798 RGD:11353805 RGD:11532767 RGD:11532769 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327 		JBrowse link
G NBN nibrin susceptibility ISO ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to OMIM
ClinVar		 PMID:9590180 PMID:11325820 PMID:14559852 PMID:15338273 PMID:16415040 More... NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307 		JBrowse link
G NOS3 nitric oxide synthase 3 disease_progression
susceptibility		 ISO DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)
DNA:SNP: :rs3918186(human)		 RGD PMID:20510681 PMID:23922896 RGD:11533639 RGD:11533646 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO DNA:mutation: :609C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human)		 RGD
CTD		 PMID:11774269 PMID:17332311 PMID:18444911 RGD:10769347 RGD:10769359 NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase disease_progression ISO DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24076604 NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513 		JBrowse link
G NUP214 nucleoporin 214 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305 		JBrowse link
G PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 8:77,492,087...77,635,854
Ensembl chr 8:79,123,503...79,218,100 		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 NCBI chr 9:36,677,369...36,876,678
Ensembl chr 9:37,474,267...37,673,684 		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 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493 		JBrowse link
G PRDM14 PR/SET domain 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043588 NCBI chr 8:66,578,674...66,599,360
Ensembl chr 8:68,240,741...68,260,263 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752 		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 1:179,466,263...179,474,779
Ensembl chr 1:183,755,392...183,764,937 		JBrowse link
G TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 1:46,524,484...46,540,595
Ensembl chr 1:48,042,594...48,048,622 		JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 Ensembl chr19:1,582,297...1,622,025 JBrowse link
G TCN2 transcobalamin 2 ISO protein:altered activity:plasma: RGD PMID:8754152 RGD:11059889 NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494 		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 chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872 		JBrowse link
G TM9SF2 transmembrane 9 superfamily member 2 ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:12730115 RGD:2317244 NCBI chr13:80,669,277...80,731,340
Ensembl chr13:99,807,555...99,869,456 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		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 6:17,977,544...18,002,839
Ensembl chr 6:18,330,000...18,355,157 		JBrowse link
G TYMS thymidylate synthetase treatment ISO DNA:repeats: : rs347430033(human) RGD PMID:25007187 RGD:11080979 NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility
no_association		 ISO DNA:missense mutation, haplotype: :p.R399Q (human)
DNA:missense mutation: :p.R399Q (human)
DNA:missense mutation: :p.R194W (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19101034 PMID:21983886 RGD:11252110 RGD:11252192 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520 		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 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941 		JBrowse link
G CRLF2 cytokine receptor like factor 2 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:19907440 PMID:19965641 PMID:20018760 PMID:22368272 NCBI chr  X:933,459...957,950 JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 susceptibility ISO DNA:polymorphism:G15631T RGD PMID:19144407 RGD:6480472 NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672 		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 chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		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 chr 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612 		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 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827 		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 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991 		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 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626 		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 chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964 		JBrowse link
acute megakaryocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) ISO RGD PMID:21640380 RGD:11081147 NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:16166298 NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159 		JBrowse link
G CORO7 coronin 7 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar NCBI chr16:3,281,481...3,342,937 JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO associated with Down Syndrome;DNA:mutations:multiple (human) RGD PMID:24056718 RGD:10450890 NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726 		JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar PMID:15070711 PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 More... NCBI chr  X:41,088,724...41,092,190
Ensembl chr  X:48,945,394...48,953,126 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326 		JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia | ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar PMID:10982185 PMID:16843266 PMID:18270328 PMID:18397343 PMID:20132407 More... NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964 		JBrowse link
G MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar NCBI chr 6:37,197,192...37,264,426
Ensembl chr 6:38,394,341...38,453,604 		JBrowse link
G MRTFA myocardin related transcription factor A ISO RGD PMID:11431691 RGD:1599948 NCBI chr22:21,314,829...21,536,673
Ensembl chr22:39,413,002...39,467,402 		JBrowse link
G PCF11 PCF11 cleavage and polyadenylation factor subunit ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar NCBI chr11:78,220,710...78,249,276
Ensembl chr11:81,832,383...81,860,958 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar PMID:10848731 PMID:17941496 PMID:20600018 PMID:21194675 PMID:21343951 More... NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G RASAL3 RAS protein activator like 3 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar NCBI chr19:14,982,964...14,995,889
Ensembl chr19:15,969,582...15,981,800 		JBrowse link
G SLC9A2 solute carrier family 9 member A2 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar NCBI chr2A:99,112,174...99,202,890
Ensembl chr2A:103,717,055...103,806,141 		JBrowse link
G SNCB synuclein beta ISO RGD PMID:21264917 RGD:6478703 NCBI chr 5:171,918,297...171,928,672
Ensembl chr 5:178,988,439...178,998,800 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar PMID:11370630 PMID:20522432 PMID:28492532 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
acute monocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMT3A DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399634 NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:8282816 NCBI chr11:113,273,198...113,364,404 JBrowse link
G MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor ISO RGD PMID:7662954 RGD:1598771 NCBI chr10:21,686,507...21,907,247
Ensembl chr10:21,994,975...22,282,737 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Acute monocytic leukemia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Acute monocytic leukemia ClinVar PMID:25117502 PMID:25741868 PMID:25980754 PMID:26467025 PMID:28492532 Ensembl chr19:1,188,537...1,210,677 JBrowse link
acute myeloid leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) disease_progression
treatment		 ISO RGD PMID:12145683 PMID:26512967 RGD:11081145 RGD:11099971 NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO DNA:translocation: : RGD PMID:12161353 RGD:10450603 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941 		JBrowse link
G ACSL6 acyl-CoA synthetase long chain family member 6 ISO DNA:translocation: :t(5;12)(q31;p13) (human) RGD PMID:10502316 RGD:1599805 NCBI chr 5:127,373,306...127,434,954
Ensembl chr 5:133,537,292...133,586,711 		JBrowse link
G ADCY7 adenylate cyclase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206229 NCBI chr16:30,507,836...30,581,068
Ensembl chr16:49,410,143...49,462,278 		JBrowse link
G AGRN agrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 Ensembl chr 1:936,000...966,808 JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 ISO mRNA:increased expression:blood (human) RGD PMID:26046517 RGD:11067888 NCBI chr 9:108,234,949...108,248,227
Ensembl chr 9:137,204,356...137,217,652 		JBrowse link
G ANXA2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250 		JBrowse link
G ANXA4 annexin A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr2A:69,686,651...69,869,340
Ensembl chr2A:70,902,260...70,986,917 		JBrowse link
G ANXA5 annexin A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972 		JBrowse link
G ANXA6 annexin A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr 5:146,528,446...146,585,186
Ensembl chr 5:152,530,445...152,652,231 		JBrowse link
G AQP9 aquaporin 9 ISO CTD Direct Evidence: therapeutic CTD PMID:16968895 NCBI chr15:37,107,061...37,154,887
Ensembl chr15:55,418,767...55,466,541 		JBrowse link
G ASMTL acetylserotonin O-methyltransferase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 Ensembl chr  X:1,534,754...1,588,735 JBrowse link
G ASXL1 ASXL transcriptional regulator 1 disease_progression ISO DNA:mutations:exon: RGD PMID:20693432 RGD:11038706 NCBI chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453 		JBrowse link
G ASXL2 ASXL transcriptional regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27798625 NCBI chr2A:25,730,155...25,880,089
Ensembl chr2A:25,832,527...25,973,659 		JBrowse link
G ATG2B autophagy related 2B ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar NCBI chr14:76,910,943...76,992,969
Ensembl chr14:96,237,825...96,314,881 		JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr 1:144,592,667...144,621,052
Ensembl chr 1:148,314,793...148,342,050 		JBrowse link
G BAALC BAALC binder of MAP3K1 and KLF4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19822134 NCBI chr 8:99,796,292...99,942,112
Ensembl chr 8:101,950,095...102,041,388 		JBrowse link
G BACH2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21441929 NCBI chr 6:87,806,188...88,175,840
Ensembl chr 6:91,083,533...91,160,552 		JBrowse link
G BCL2 BCL2 apoptosis regulator severity
susceptibility		 ISO DNA:snp:exon:c.+21A>G (rs1801018) (human)
CTD Direct Evidence: marker/mechanism
ratio with Flt3, Kit;mRNA:decreased expression:mononuclear cell (human)
DNA:snp:promoter:g.-938C>A (human)		 RGD
CTD		 PMID:19520430 PMID:23906301 PMID:25216797 PMID:25957891 RGD:11526107 RGD:11526109 RGD:11526111 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		JBrowse link
G BCL2L1 BCL2 like 1 severity ISO mRNA:increased expression:peripheral blood, bone marrow, blast cell (human) RGD PMID:11410409 RGD:11353851 NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585 		JBrowse link
G BDKRB1 bradykinin receptor B1 ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar NCBI chr14:76,885,923...76,894,456 JBrowse link
G BDKRB2 bradykinin receptor B2 ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar NCBI chr14:76,832,833...76,873,860
Ensembl chr14:96,156,494...96,196,253 		JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO RGD PMID:16105758 RGD:1580059 NCBI chr10:22,477,755...22,487,894 JBrowse link
G BRD4 bromodomain containing 4 ISO RGD PMID:21814200 RGD:9586350 NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600 		JBrowse link
G BRD7 bromodomain containing 7 susceptibility ISO mRNA:increased expression:bone marrow:
DNA:haplotype:cds:737A>G,495C>T(human)		 RGD PMID:18772500 RGD:9586443 NCBI chr16:30,576,449...30,630,409
Ensembl chr16:49,463,048...49,514,386 		JBrowse link
G BTG1 BTG anti-proliferation factor 1 disease_progression ISO RGD PMID:15449376 RGD:1549463 NCBI chr12:89,678,431...89,681,177
Ensembl chr12:92,992,584...92,994,038 		JBrowse link
G C14H14orf132 chromosome 14 C14orf132 homolog ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar NCBI chr14:76,668,209...76,715,766
Ensembl chr14:95,992,446...96,040,079 		JBrowse link
G CALR calreticulin ISO mRNA:increased expression:peripheral blood (human) RGD PMID:26640226 RGD:11076986 NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416 		JBrowse link
G CAPG capping actin protein, gelsolin like ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206229 NCBI chr2A:85,447,296...85,466,677
Ensembl chr2A:86,997,891...87,016,263 		JBrowse link
G CAPN2 calpain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr 1:199,335,582...199,399,267
Ensembl chr 1:204,335,573...204,409,150 		JBrowse link
G CASP7 caspase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr10:110,273,318...110,324,800
Ensembl chr10:113,707,780...113,758,626 		JBrowse link
G CBFB core-binding factor subunit beta ISO ClinVar Annotator: match by term: Acute myeloid leukemia OMIM
ClinVar		 PMID:25741868 NCBI chr16:47,373,543...47,446,783 JBrowse link
G CBL Cbl proto-oncogene disease_progression ISO associated with Myelodysplastic Syndromes;DNA:mutations:exons: RGD PMID:22131879 RGD:11038796 NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO protein:increased expression:plasma (human) RGD PMID:17822317 PMID:25382729 RGD:11528532 RGD:11528537 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384 		JBrowse link
G CCNA1 cyclin A1 ISO protein:increased expression:leukocyte (human) RGD PMID:10068680 RGD:2316304 NCBI chr13:17,649,064...17,660,550
Ensembl chr13:36,080,331...36,092,078 		JBrowse link
G CCND1 cyclin D1 treatment ISO human tumor in a mouse model
mRNA:increased expression:bone marrow (human)		 RGD PMID:21928377 PMID:22391157 RGD:11352824 RGD:11353789 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27798625 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551 		JBrowse link
G CD44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23098472 NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009 		JBrowse link
G CD86 CD86 molecule severity ISO protein:increased expression:mononuclear cell of bone marrow (human) RGD PMID:16115907 PMID:19197726 RGD:11354960 RGD:4892295 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339 		JBrowse link
G CD9 CD9 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr12:6,327,783...6,366,083
Ensembl chr12:6,245,348...6,283,385 		JBrowse link
G CDH1 cadherin 1 disease_progression ISO DNA:hypermethylation:promoter: RGD PMID:15863205 RGD:11252161 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		JBrowse link
G CDK6 cyclin dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206229 NCBI chr 7:84,603,419...84,835,082 JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO DNA:deletion: : RGD PMID:9171997 RGD:10450601 NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression ISO DNA:deletion: :
mRNA,protein:altered expression:bone marrow:		 RGD PMID:11064355 PMID:11697625 RGD:11251749 RGD:11252080 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B disease_progression
susceptibility
treatment		 ISO DNA:hypermethylation:promoter:
DNA:hypermethylation: :
mRNA:decreased expression:granulocyte,monocyte:
DNA:deletion: :		 RGD PMID:9001419 PMID:11064355 PMID:14681685 PMID:15863205 PMID:25616284 More... RGD:11251739 RGD:11251749 RGD:11252161 RGD:11252164 RGD:11252167 RGD:11252196 NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156 		JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia OMIM
ClinVar		 PMID:11242107 PMID:12661007 PMID:12692518 PMID:14726504 PMID:15575056 More... NCBI chr19:30,223,567...30,226,204 JBrowse link
G CEBPD CCAAT enhancer binding protein delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17234736 NCBI chr 8:44,167,256...44,168,545 JBrowse link
G CFHR1 complement factor H related 1 susceptibility ISO DNA:deletion: : RGD PMID:26317246 RGD:11341662 NCBI chr 1:172,267,658...172,337,130 JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator disease_progression ISO RGD PMID:23167276 RGD:11341679 NCBI chr2B:88,373,057...88,429,959
Ensembl chr2B:206,528,943...206,577,045 		JBrowse link
G CHI3L1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16361549 RGD:4892644 NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229 		JBrowse link
G CHIC2 cysteine rich hydrophobic domain 2 ISO OMIM NCBI chr 4:69,875,762...69,933,360
Ensembl chr 4:76,435,107...76,490,371 		JBrowse link
G CHMP5 charged multivesicular body protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17708794 NCBI chr 9:33,043,148...33,059,564
Ensembl chr 9:33,851,377...33,867,942 		JBrowse link
G CNR2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15039279 NCBI chr 1:23,066,153...23,108,065
Ensembl chr 1:24,050,008...24,051,090 		JBrowse link
G CREBBP CREB binding protein ISO DNA:translocations:intron:IVS2 (human) RGD PMID:12461753 RGD:734819 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206 		JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1390197 NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415 		JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:1826536 PMID:21441929 RGD:10449528 NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146 		JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:7528855 PMID:10673519 RGD:11039033 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729 		JBrowse link
G CSF3R colony stimulating factor 3 receptor susceptibility
disease_progression		 ISO associated with Severe Congenital Neutropenia;DNA:nonsense mutation:cds:
ClinVar Annotator: match by term: Acute myelogenous leukemia		 RGD
ClinVar		 PMID:9001427 PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 More... RGD:10450468 RGD:10450487 NCBI chr 1:35,730,678...35,747,939
Ensembl chr 1:36,897,153...36,910,612 		JBrowse link
G CST3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNP:3'UTR:rs3087243(human) RGD PMID:19092854 RGD:11344911 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498 		JBrowse link
G CTNNA1 catenin alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547 		JBrowse link
G CTSH cathepsin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr15:57,893,379...57,917,194
Ensembl chr15:76,852,668...76,876,976 		JBrowse link
G CTSZ cathepsin Z ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr20:55,346,241...55,358,354
Ensembl chr20:56,706,511...56,718,941 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 treatment
disease_progression		 ISO RGD PMID:24035716 PMID:26031918 RGD:11352265 RGD:11352273 NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 no_association
disease_progression		 ISO DNA:SNP: :4889A>G (human)
DNA:SNP: :6235T>C (human)
DNA:polymorphism: :6235T>C (human)		 RGD PMID:15996939 PMID:19456854 RGD:10769358 RGD:11352736 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636 		JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 susceptibility ISO DNA:polymorphism:G15631T RGD PMID:19144407 RGD:6480472 NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672 		JBrowse link
G DAPK1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19874806 NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:25741868 PMID:25920683 PMID:26712909 PMID:28547672 PMID:30963592 More... NCBI chr 5:172,812,755...172,818,217
Ensembl chr 5:179,873,626...179,884,402 		JBrowse link
G DHX15 DEAH-box helicase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27798625 PMID:29163777 NCBI chr 4:18,931,119...18,988,048
Ensembl chr 4:24,217,123...24,273,585 		JBrowse link
G DLEC1 DLEC1 cilia and flagella associated protein treatment ISO DNA:hypermethylation:promoter: RGD PMID:27168825 RGD:11252164 NCBI chr 3:37,937,566...38,020,662
Ensembl chr 3:38,221,275...38,303,194 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA:increased expression:CD34+ bone marrow cells RGD PMID:11222358 RGD:9588667 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha disease_progression
susceptibility
treatment		 ISO ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia
DNA:missense mutation:exon:p.R882 (human)
associated with Myelodysplastic Syndromes; DNA:mutations:cds:
DNA:hypomethylation: :
DNA:mutation::		 OMIM
ClinVar
RGD		 PMID:21067377 PMID:21415852 PMID:21518476 PMID:22160010 PMID:22722925 More... RGD:11041120 RGD:11041121 RGD:11041122 RGD:11041123 NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression
susceptibility		 ISO DNA:SNP:promoter: C>T46359(human)
DNA:SNPs,haplotype: :rs1569686,rs2424908, rs6087990, rs6119954(human)
mRNA:increased expression:CD34+ bone marrow cells		 RGD PMID:11222358 PMID:16194411 PMID:23251566 PMID:24069326 RGD:9588667 RGD:9589071 RGD:9589103 RGD:9589108 NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487 		JBrowse link
G EHD3 EH domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr2A:31,245,908...31,280,485
Ensembl chr2A:31,317,432...31,353,312 		JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:24532712 RGD:9589168 NCBI chr 6:31,542,946...31,560,894
Ensembl chr 6:32,429,271...32,451,844 		JBrowse link
G EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19458359 NCBI chr 8:37,336,698...37,362,768
Ensembl chr 8:34,513,359...34,538,936 		JBrowse link
G ENAH ENAH actin regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26237430 NCBI chr 1:200,956,988...201,113,242
Ensembl chr 1:205,963,247...206,115,672 		JBrowse link
G ENO2 enolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr12:7,043,807...7,053,178
Ensembl chr12:6,958,960...6,968,342 		JBrowse link
G EPHX1 epoxide hydrolase 1 no_association ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.Y113H, p.H139R (human)
DNA:SNPs:exon:rs1051740, rs2234922 (human)
DNA:polymorphism		 CTD
RGD		 PMID:11849215 PMID:20731606 PMID:22200898 PMID:29605894 RGD:11252114 RGD:11252115 RGD:11252119 NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment
no_association		 ISO DNA:SNP: :p.Q504K (human)
DNA:polymorphism: :p.R399Q (human)		 RGD PMID:16507781 PMID:18604718 PMID:20141440 PMID:21942242 PMID:23397959 RGD:11252170 RGD:11252171 RGD:11252173 RGD:11252179 RGD:11252193 NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression
no_association		 ISO associated with Myeloproliferative Disorders;DNA:polymorphism: :p.K751Q (rs13181) (human)
DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human)		 RGD PMID:20141440 PMID:21394217 PMID:22496165 PMID:23397959 RGD:11252173 RGD:11252193 RGD:11252198 RGD:11252209 NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G ERG ETS transcription factor ERG ISO CTD Direct Evidence: marker/mechanism CTD PMID:19822134 NCBI chr21:24,737,829...25,016,378
Ensembl chr21:38,087,339...38,281,403 		JBrowse link
G ETV6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Acute myeloid leukemia OMIM
ClinVar		 PMID:15806161 PMID:25581430 PMID:25741868 PMID:25807284 PMID:31248877 More... NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression
susceptibility		 ISO mRNA:increased expression:bone marrow, mononuclear cell (human)
DNA:mutations:cds:multiple (human)		 RGD PMID:21125401 PMID:22677129 PMID:23099237 RGD:10450874 RGD:10450876 RGD:10450887 NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726 		JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:2617479 RGD:11340207 NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050 		JBrowse link
G FADD Fas associated via death domain disease_progression ISO RGD PMID:15520222 RGD:11341799 NCBI chr11:65,300,889...65,305,020 JBrowse link
G FANCA FA complementation group A ISO DNA, mRNA:deletions, decreased expression: :multiple RGD PMID:14749703 RGD:11344889 NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147 		JBrowse link
G FANCC FA complementation group C susceptibility ISO DNA:polymorphism:cds:p.S26F (human) RGD PMID:12670332 RGD:11046259 NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198 		JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism, haplotype:promoter:-1377 G>A, -670 G>A (human)		 RGD
CTD		 PMID:7579353 PMID:8870373 PMID:12907599 RGD:11049150 RGD:11049452 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G FERMT2 FERM domain containing kindlin 2 disease_progression ISO RGD PMID:22391155 RGD:11352307 NCBI chr14:33,453,983...33,547,721
Ensembl chr14:51,737,188...51,829,766 		JBrowse link
G FERMT3 FERM domain containing kindlin 3 disease_progression ISO RGD PMID:22391155 RGD:11352307 NCBI chr11:59,562,861...59,581,054
Ensembl chr11:62,909,030...62,928,191 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 treatment ISO RGD PMID:22683780 PMID:23777766 PMID:27005999 RGD:11352310 RGD:11352665 RGD:11352670 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G FHL2 four and a half LIM domains 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr2A:96,391,513...96,469,267
Ensembl chr2A:106,446,368...106,484,895 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 treatment
disease_progression		 ISO ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, reduced survival in, somatic
DNA:mutations:cds:
DNA:duplication mutation:cds:		 OMIM
ClinVar
RGD		 PMID:11091200 PMID:11290608 PMID:11442493 PMID:12384447 PMID:14604974 More... RGD:11049467 RGD:11049482 NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940 		JBrowse link
G FOXO1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr13:21,763,729...21,874,279 JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr11:112,671,570...112,712,085
Ensembl chr11:116,606,903...116,609,890 		JBrowse link
G GAS2L1 growth arrest specific 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr22:10,362,391...10,368,173
Ensembl chr22:28,169,387...28,175,278 		JBrowse link
G GATA1 GATA binding protein 1 disease_progression ISO RGD PMID:7579412 RGD:10450754 NCBI chr  X:41,088,724...41,092,190
Ensembl chr  X:48,945,394...48,953,126 		JBrowse link
G GATA2 GATA binding protein 2 disease_progression ISO ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to OMIM
ClinVar
RGD		 PMID:4508672 PMID:8701948 PMID:20040766 PMID:21242295 PMID:21670465 More... RGD:11049510 RGD:11049515 NCBI chr 3:125,526,537...125,535,649
Ensembl chr 3:132,890,508...132,899,035 		JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor susceptibility ISO DNA:SNP:cds:c.107G>A(rs34631763)(human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17330099 PMID:20075157 RGD:11040450 NCBI chr 1:95,139,171...95,151,054
Ensembl chr 1:93,876,245...93,883,528 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326 		JBrowse link
G GPATCH1 G-patch domain containing 1 ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:30,004,150...30,052,802
Ensembl chr19:38,749,078...38,800,166 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO protein:increased expression:plasma: RGD PMID:6589021 RGD:11051848 NCBI chr19:31,301,469...31,355,362
Ensembl chr19:40,024,584...40,080,598 		JBrowse link
G GPX1 glutathione peroxidase 1 disease_progression
susceptibility
treatment		 ISO DNA:SNP: :c.599C>T (rs1050450) (human)
DNA:polymorphism: :p.P198L (human)		 RGD PMID:22930375 PMID:26823947 PMID:26950655 RGD:11061561 RGD:11061784 RGD:11352817 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		JBrowse link
G GSKIP GSK3B interacting protein ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar NCBI chr14:76,993,055...77,017,142
Ensembl chr14:96,329,936...96,339,378 		JBrowse link
G GSR glutathione-disulfide reductase ISO RGD PMID:24191316 RGD:11059506 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 disease_progression
susceptibility		 ISO DNA:deletion: : (human)
DNA:methylation: :		 RGD PMID:11488937 PMID:18035413 PMID:22924777 RGD:10450822 RGD:10755318 RGD:10755405 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:cds:p.I105V(human)
chemotherapy-induced;		 RGD PMID:11553769 PMID:11906705 PMID:21729529 RGD:10755328 RGD:10755420 RGD:10755422 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472 		JBrowse link
G GTF2I general transcription factor IIi ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206229 Ensembl chr 7:81,831,442...81,901,926 JBrowse link
G H1-2 H1.2 linker histone, cluster member ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr 6:25,891,079...25,891,859
Ensembl chr 6:26,549,016...26,549,657 		JBrowse link
G HGF hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683780 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811 		JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA:increased expression:brain, spleen RGD PMID:19268504 RGD:10755700 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063 		JBrowse link
G HOXA9 homeobox A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22541086 NCBI chr 7:27,806,942...27,810,304
Ensembl chr 7:27,405,931...27,409,984 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984 		JBrowse link
G ID2 inhibitor of DNA binding 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr2A:8,681,592...8,684,014
Ensembl chr2A:8,847,776...8,850,720 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 disease_progression ISO DNA:mutation:cds:p.R132(human)
ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia
DNA:SNP::105C>T (rs11554137)(human)		 RGD
ClinVar		 PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20368543 More... RGD:11522718 RGD:11522721 NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression ISO DNA:mutation:cds:p.R140 (human)
ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia
DNA:mutation:cds:p.R172(human)		 RGD
ClinVar		 PMID:20171147 PMID:20368543 PMID:20847235 PMID:20946881 PMID:21250968 More... RGD:11522718 RGD:11522721 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276 		JBrowse link
G IFI30 IFI30 lysosomal thiol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr19:17,652,935...17,657,239
Ensembl chr19:18,629,663...18,635,046 		JBrowse link
G IL10 interleukin 10 disease_progression ISO RGD PMID:23357299 RGD:11046264 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G IL1A interleukin 1 alpha treatment ISO RGD PMID:2460157 RGD:11051965 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G IL4R interleukin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11918534 Ensembl chr16:27,642,702...27,737,445 JBrowse link
G IL6 interleukin 6 disease_progression
treatment		 ISO human protein in a rat model RGD PMID:8892684 PMID:23357299 RGD:11046264 RGD:11062010 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G INPP4B inositol polyphosphate-4-phosphatase type II B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29415082 NCBI chr 4:134,405,934...135,213,851
Ensembl chr 4:145,706,307...146,141,029 		JBrowse link
G INSL6 insulin like 6 ISO ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 More... NCBI chr 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827 		JBrowse link
G ITGAV integrin subunit alpha V treatment ISO RGD PMID:23770013 RGD:10755448 NCBI chr2B:73,880,962...73,972,486
Ensembl chr2B:191,680,655...191,773,028 		JBrowse link
G ITGB3 integrin subunit beta 3 treatment ISO RGD PMID:23770013 RGD:10755448 NCBI chr17:10,134,450...10,194,596 JBrowse link
G JAK1 Janus kinase 1 ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:21436584 More... NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991 		JBrowse link
G JAK2 Janus kinase 2 ISO ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia OMIM
ClinVar		 PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 More... NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626 		JBrowse link
G KAT6A lysine acetyltransferase 6A ISO human gene in a mouse model;DNA:translocation:exon RGD PMID:12676584 RGD:9590334 NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia OMIM
ClinVar		 PMID:7479840 PMID:7513208 PMID:7691885 PMID:8589724 PMID:9657776 More... NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473 		JBrowse link
G KLF1 Kruppel like factor 1 disease_progression ISO RGD PMID:19097174 RGD:10769344 NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO DNA:rearrangements
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8361504 PMID:10339604 PMID:26237430 RGD:1625285 NCBI chr11:113,273,198...113,364,404 JBrowse link
G KMT2B lysine methyltransferase 2B susceptibility ISO RGD PMID:25079327 RGD:9588599 NCBI chr19:32,647,815...32,668,656
Ensembl chr19:41,382,458...41,402,695 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:24794707 NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia OMIM
ClinVar		 PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LOC100970460 histone H1.0 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr22:18,720,235...18,722,440
Ensembl chr22:36,551,693...36,552,277 		JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO RGD PMID:17237562 PMID:20051322 RGD:11041763 RGD:11041776 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		JBrowse link
G LOC100973922 splicing factor U2AF 35 kDa subunit-like protein ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011 NCBI chr21:29,399,601...29,414,156 JBrowse link
G LOC100977039 supervillin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr10:29,609,492...29,886,920
Ensembl chr10:29,965,792...30,064,765 		JBrowse link
G LOC100979736 PC4 and SFRS1-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr 9:15,280,947...15,327,897
Ensembl chr 9:15,784,740...15,831,449 		JBrowse link
G LOC100983058 myeloid cell surface antigen CD33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12921496 NCBI chr19:48,161,860...48,176,824
Ensembl chr19:57,049,009...57,063,958 		JBrowse link
G LPAR1 lysophosphatidic acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr 9:82,013,960...82,179,227
Ensembl chr 9:110,179,600...110,279,038 		JBrowse link
G LPP LIM domain containing preferred translocation partner in lipoma ISO ClinVar Annotator: match by term: Acute myeloid leukemia OMIM
ClinVar		 PMID:25741868 NCBI chr 3:185,179,432...185,916,477
Ensembl chr 3:193,991,530...194,462,641 		JBrowse link
G LRP3 LDL receptor related protein 3 ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:30,116,649...30,129,964
Ensembl chr19:38,863,504...38,876,299 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750 		JBrowse link
G LYL1 LYL1 basic helix-loop-helix family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16094422 NCBI chr19:12,660,548...12,664,513
Ensembl chr19:13,407,596...13,409,309 		JBrowse link
G MDM2 MDM2 proto-oncogene disease_progression ISO RGD PMID:11064355 RGD:11251749 NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278 		JBrowse link
G MECOM MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:30472098 NCBI chr 3:166,099,530...166,677,739
Ensembl chr 3:174,154,814...174,731,252 		JBrowse link
G MEFV MEFV innate immuity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.M694V,E148Q(human) RGD PMID:22351163 RGD:11531114 NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683780 NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159 		JBrowse link
G MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor ISO ClinVar Annotator: match by term: Acute myeloid leukemia OMIM
ClinVar		 PMID:25741868 NCBI chr10:21,686,507...21,907,247
Ensembl chr10:21,994,975...22,282,737 		JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:19822134 NCBI chr22:8,799,832...8,854,695 JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:17156840 RGD:10449408 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66A>G(human) RGD PMID:18774170 RGD:11075096 NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322 		JBrowse link
G MX1 MX dynamin like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr21:27,756,768...27,795,307
Ensembl chr21:41,095,928...41,123,019 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25956709 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G MYH11 myosin heavy chain 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206229 PMID:27798625 Ensembl chr16:16,007,168...16,091,058 JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility
no_association		 ISO DNA:polymorphisms,haplotype: :
DNA:polymorphism: :		 RGD PMID:11352872 PMID:21888617 RGD:11532769 RGD:11532773 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327 		JBrowse link
G NCOA2 nuclear receptor coactivator 2 ISO human gene in a mouse model;DNA:translocation:exon RGD PMID:12676584 RGD:9590334 NCBI chr 8:66,632,139...66,929,526
Ensembl chr 8:68,293,018...68,400,479 		JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: therapeutic CTD PMID:29855615 NCBI chr19:41,794,037...41,837,047
Ensembl chr19:50,399,668...50,443,024 		JBrowse link
G NF1 neurofibromin 1 disease_progression
severity		 ISO CTD Direct Evidence: marker/mechanism
DNA:deletion: :		 CTD
RGD		 PMID:12518368 PMID:21441929 PMID:23460398 PMID:25822087 RGD:12754447 RGD:12789444 NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G NOS3 nitric oxide synthase 3 disease_progression ISO DNA:polymorphgism: : 894 G>T(human) RGD PMID:24684492 RGD:11533640 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G NPM1 nucleophosmin 1 onset
disease_progression		 ISO ClinVar Annotator: match by term: Acute myeloid leukemia
DNA:mutation:exon:		 OMIM
ClinVar
RGD		 PMID:15659725 PMID:17957027 PMID:19657110 PMID:20026798 PMID:21441929 More... RGD:11049474 RGD:11070453 RGD:11534990 NCBI chr 5:166,735,904...166,756,321
Ensembl chr 5:173,490,197...173,510,656 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO DNA:SNP: :609C>T (human) RGD PMID:19456854 RGD:10769358 NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase disease_progression ISO DNA:missense mutation:cds:
ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia		 RGD
ClinVar		 PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... RGD:11070616 RGD:11535045 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 severity ISO DNA:translocations:multiple (human)
ClinVar Annotator: match by term: Acute myeloid leukemia		 RGD
ClinVar		 PMID:12807965 PMID:15942875 PMID:17565729 PMID:23190751 PMID:23630019 More... RGD:9590149 NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351 		JBrowse link
G NTRK3 neurotrophic receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29119387 NCBI chr15:66,566,219...66,953,279
Ensembl chr15:85,776,832...86,157,204 		JBrowse link
G NUP214 nucleoporin 214 ISO OMIM NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305 		JBrowse link
G NUP98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21441929 NCBI chr11:3,553,379...3,669,367
Ensembl chr11:3,661,568...3,767,443 		JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:26712908 RGD:41410789 NCBI chr2B:129,111,509...129,121,127 JBrowse link
G PDE4B phosphodiesterase 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr 1:65,038,120...65,620,764
Ensembl chr 1:67,045,911...67,506,291 		JBrowse link
G PICALM phosphatidylinositol binding clathrin assembly protein susceptibility ISO DNA:inversion: :inv(11)(q14q23) OMIM
RGD		 PMID:12461747 RGD:1600760 NCBI chr11:81,011,324...81,122,352
Ensembl chr11:84,619,241...84,730,684 		JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19458359 NCBI chr  X:41,210,494...41,216,552
Ensembl chr  X:49,068,721...49,074,731 		JBrowse link
G PLCB1 phospholipase C beta 1 severity ISO mRNA:increased expression:blood (human) RGD PMID:20516454 RGD:11535940 NCBI chr20:8,106,665...8,858,572
Ensembl chr20:7,887,960...8,636,019 		JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206229 NCBI chr13:59,821,614...59,829,671 JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32321774 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:12717436 PMID:14644997 PMID:15385933 PMID:15710330 PMID:15928039 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G PVR PVR cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:29855615 NCBI chr19:41,592,042...41,614,397
Ensembl chr19:50,196,980...50,217,006 		JBrowse link
G PXDN peroxidasin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr2A:1,584,901...1,699,675
Ensembl chr2A:1,582,193...1,692,033 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21441929 NCBI chr15:17,417,684...17,494,333
Ensembl chr15:35,675,348...35,750,315 		JBrowse link
G RGS2 regulator of G protein signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr 1:168,273,112...168,276,348
Ensembl chr 1:172,566,701...172,569,955 		JBrowse link
G RHPN2 rhophilin Rho GTPase binding protein 2 ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:29,901,608...29,988,476
Ensembl chr19:38,646,620...38,713,626 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:25741868
G RUNX1 RUNX family transcription factor 1 disease_progression ISO DNA:translocation
DNA:frameshift mutations, missense mutations, nonsense mutations: :multiple		 RGD PMID:11023523 PMID:12760263 PMID:19808697 RGD:11251692 RGD:11251704 RGD:6482833 NCBI chr21:21,159,586...21,423,946
Ensembl chr21:34,530,956...34,788,544 		JBrowse link
G RUNX1T1 RUNX1 partner transcriptional co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206229 PMID:27798625 NCBI chr 8:88,588,560...88,736,614
Ensembl chr 8:90,538,965...90,686,689 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206229 NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335 		JBrowse link
G S100A10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr 1:127,341,974...127,353,054
Ensembl chr 1:130,985,312...130,995,130 		JBrowse link
G S100A8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21971985 NCBI chr 1:128,741,378...128,742,520
Ensembl chr 1:132,370,435...132,371,591 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 severity ISO human cell line in mouse model RGD PMID:30474474 RGD:149735523 NCBI chr20:33,224,200...33,282,018
Ensembl chr20:34,341,367...34,398,314 		JBrowse link
G SEPTIN9 septin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10339604 NCBI chr17:71,361,002...71,580,995
Ensembl chr17:76,920,236...77,139,586 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:21909114 PMID:21995386 PMID:23395771 PMID:23634996 PMID:26619011 NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:26619011 NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772 		JBrowse link
G SGK1 serum/glucocorticoid regulated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr 6:131,936,397...132,082,670
Ensembl chr 6:136,033,851...136,180,121 		JBrowse link
G SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 ISO ClinVar Annotator: match by term: Acute myeloid leukemia OMIM
ClinVar		 PMID:25741868 NCBI chr19:3,383,267...3,423,165
Ensembl chr19:4,329,750...4,340,121 		JBrowse link
G SLC7A10 solute carrier family 7 member 10 ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:30,130,974...30,148,055
Ensembl chr19:38,876,098...38,893,018 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO DNA:hypermethylation: : RGD PMID:12759928 RGD:150573811 NCBI chr16:10,196,432...10,198,205 JBrowse link
G SOD2 superoxide dismutase 2 disease_progression ISO protein:increased expression:serum RGD PMID:1596865 PMID:16769586 RGD:11035286 RGD:11035289 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206229 NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750 		JBrowse link
G SPI1 Spi-1 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:26237430 NCBI chr11:47,301,245...47,326,891
Ensembl chr11:47,853,991...47,880,259 		JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25822087 NCBI chr 5:137,667,280...137,683,578
Ensembl chr 5:143,778,785...143,791,939 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 severity ISO DNA:mutations:multiple (human) RGD PMID:22431577 RGD:11039017 NCBI chr17:70,809,931...70,813,191
Ensembl chr17:76,375,957...76,379,759 		JBrowse link
G SRSF4 serine and arginine rich splicing factor 4 ISO mRNA:decreased expression: (human) RGD PMID:22722453 RGD:11039059 NCBI chr 1:28,418,297...28,452,595
Ensembl chr 1:29,444,269...29,478,035 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G SYNGR1 synaptogyrin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr22:20,253,936...20,289,470
Ensembl chr22:38,071,261...38,104,931 		JBrowse link
G TCEA2 transcription elongation factor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 Ensembl chr20:61,976,869...61,986,592 JBrowse link
G TCL1A TCL1 family AKT coactivator A ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar NCBI chr14:76,339,614...76,343,546
Ensembl chr14:95,664,120...95,667,375 		JBrowse link
G TCN2 transcobalamin 2 ISO protein:increased expression:: RGD PMID:1059479 RGD:11060122 NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494 		JBrowse link
G TEK TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:19340004 PMID:28492532 NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572 		JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to OMIM
ClinVar
RGD		 PMID:15814878 PMID:17460043 PMID:18042801 PMID:18460650 PMID:18753630 More... RGD:11038655 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 disease_progression ISO DNA:deletions RGD PMID:23389918 PMID:25200248 RGD:11038681 RGD:11038682 NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400 		JBrowse link
G TFPI2 tissue factor pathway inhibitor 2 ISO DNA:hypermethylation:promoter: RGD PMID:22052167 RGD:11060127 NCBI chr 7:85,835,141...85,839,515
Ensembl chr 7:99,426,006...99,431,099 		JBrowse link
G TFR2 transferrin receptor 2 disease_progression ISO RGD PMID:15015967 RGD:11062090 NCBI chr 7:92,647,431...92,669,889
Ensembl chr 7:106,048,935...106,069,238 		JBrowse link
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:21106500 PMID:23206699 PMID:24755948 PMID:25253745 PMID:26467025 More... NCBI chr20:2,509,000...2,543,650
Ensembl chr20:2,259,725...2,306,743 		JBrowse link
G TMEM127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:20923864 PMID:25741868 PMID:28492532 NCBI chr2A:103,049,655...103,065,116
Ensembl chr2A:97,174,322...97,189,171 		JBrowse link
G TNFSF10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:12780785 NCBI chr 3:169,512,491...169,530,706
Ensembl chr 3:177,694,021...177,712,137 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 PMID:10512160 PMID:11918534 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822 		JBrowse link
G TNFSF9 TNF superfamily member 9 ISO protein:increased expression:serum (human) RGD PMID:11564827 RGD:2317350 NCBI chr19:5,558,021...5,562,901
Ensembl chr19:6,476,941...6,483,352 		JBrowse link
G TP53 tumor protein p53 disease_progression
treatment		 ISO ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia
DNA:mutation: :
DNA:mutations: :		 RGD
ClinVar		 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 More... RGD:11057925 RGD:11073714 RGD:11075071 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206229 NCBI chr 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736 		JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206229 NCBI chr 5:14,448,259...14,814,875
Ensembl chr 5:14,423,780...14,654,124 		JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759 		JBrowse link
G TSC2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19250671 NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		JBrowse link
G TUBB2A tubulin beta 2A class IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr 6:2,993,653...2,997,570 JBrowse link
G TYMS thymidylate synthetase susceptibility ISO DNA:repeats,insertion/deletion:5'UTR, 3'UTR: RGD PMID:18774170 RGD:11075096 NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320 		JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression ISO DNA:SNP,haplotype: :(rs3025039),(rs699947),(rs833061)(human) RGD PMID:17983459 RGD:13432134 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
G VOPP1 VOPP1 WW domain binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206229 NCBI chr 7:56,061,704...56,163,517
Ensembl chr 7:56,372,027...56,463,310 		JBrowse link
G VSIG4 V-set and immunoglobulin domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206229 NCBI chr  X:55,137,938...55,155,569
Ensembl chr  X:65,211,313...65,229,332 		JBrowse link
G WDR88 WD repeat domain 88 ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:30,054,254...30,099,464
Ensembl chr19:38,797,253...38,842,843 		JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:24374862 PMID:24422723 PMID:24521058 PMID:24659740 PMID:24667279 More... NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		JBrowse link
G ZBTB7A zinc finger and BTB domain containing 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27798625 NCBI chr19:3,066,554...3,090,285 JBrowse link
G ZFP91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase ISO RGD PMID:12738986 RGD:727221 NCBI chr11:53,833,437...53,875,435
Ensembl chr11:57,294,678...57,333,088 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO DNA:missense mutations:multiple (human)
associated with aging		 RGD PMID:25550361 PMID:32027246 RGD:151232299 RGD:151347178 NCBI chr  X:8,413,483...8,447,340
Ensembl chr  X:15,772,064...15,804,913 		JBrowse link
Acute Myelomonocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP26 Rho GTPase activating protein 26 ISO juvenile myelomonocytic leukemia, OMIM:607785 translocation t(5;11)(q31;q23) fusing ARHGAP26 to MLL in one allele and point mutation A1255G/Asn417Ser or one of two insertions in second allele RGD PMID:10908648 RGD:1599311 NCBI chr 5:138,125,142...138,585,550
Ensembl chr 5:144,234,913...144,686,252 		JBrowse link
G CBFB core-binding factor subunit beta susceptibility ISO DNA:inversion: :inv(16)(p13q22)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8351518 PMID:10958941 RGD:1599543 NCBI chr16:47,373,543...47,446,783 JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO RGD PMID:14681685 RGD:11252167 NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 treatment ISO RGD PMID:22187040 RGD:11049503 NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940 		JBrowse link
G GMPS guanine monophosphate synthase ISO treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes RGD PMID:11110714 RGD:1598998 NCBI chr 3:152,925,905...152,999,180
Ensembl chr 3:160,977,222...161,045,214 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:8282816 NCBI chr11:113,273,198...113,364,404 JBrowse link
G MYH11 myosin heavy chain 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10958941 Ensembl chr16:16,007,168...16,091,058 JBrowse link
acute promyelocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12556562 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756 		JBrowse link
G AQP9 aquaporin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23563754 NCBI chr15:37,107,061...37,154,887
Ensembl chr15:55,418,767...55,466,541 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27770503 NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159 		JBrowse link
G CD44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16208414 PMID:17349212 NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B disease_progression ISO DNA:hyprmethylation:promoter: RGD PMID:12750706 RGD:11252187 NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156 		JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16788101 PMID:26285909 NCBI chr19:30,223,567...30,226,204 JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO CTD Direct Evidence: therapeutic CTD PMID:16788101 NCBI chr14:3,937,200...3,939,112
Ensembl chr14:22,033,654...22,035,219 		JBrowse link
G DAPK2 death associated protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28978663 NCBI chr15:42,860,484...42,999,489
Ensembl chr15:61,152,553...61,284,990 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr11:66,450,230...66,464,214
Ensembl chr11:69,721,741...69,735,715 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605 		JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10726043 PMID:16206674 RGD:11340216 NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17454189 PMID:24160850 PMID:26285909 NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940 		JBrowse link
G FNDC3B fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28314734 NCBI chr 3:169,047,205...169,408,664
Ensembl chr 3:177,301,873...177,590,367 		JBrowse link
G GLI1 GLI family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23867347 NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23867347 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442 		JBrowse link
G GPHN gephyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr14:47,081,527...47,755,182
Ensembl chr14:66,137,166...66,634,550 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276 		JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:22617429 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G IL17A interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22617429 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074 		JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25583766 NCBI chr 1:210,143,516...210,148,878 JBrowse link
G ITGAL integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:16764927 NCBI chr16:24,445,966...24,496,037
Ensembl chr16:30,843,747...30,892,597 		JBrowse link
G ITGAM integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:16764927 NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406 		JBrowse link
G ITGAX integrin subunit alpha X ISO CTD Direct Evidence: marker/mechanism CTD PMID:16764927 NCBI chr16:23,574,807...23,612,638
Ensembl chr16:31,724,113...31,797,249 		JBrowse link
G ITGB2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16764927 NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473 		JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) severity ISO mRNA:decreased expression:peripheral blood, bone marrow, mononuclear cells (human) RGD PMID:24796963 RGD:9588539 NCBI chr 7:97,001,250...97,099,956
Ensembl chr 7:109,734,808...109,832,851 		JBrowse link
G LAT2 linker for activation of T cells family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32587277 Ensembl chr 7:81,350,666...81,377,115 JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519 		JBrowse link
G LTC4S leukotriene C4 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 5:174,946,346...174,950,805 JBrowse link
G ME1 malic enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 6:81,107,569...81,320,050
Ensembl chr 6:84,382,732...84,595,701 		JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 1:196,333,803...196,371,147
Ensembl chr 1:201,369,424...201,405,602 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor onset ISO mRNA:increased expression:promyelocyte: RGD PMID:21059853 RGD:11532756 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G NCAM1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:24296270 RGD:40907062 NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401 		JBrowse link
G NPM1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14508522 PMID:26285909 NCBI chr 5:166,735,904...166,756,321
Ensembl chr 5:173,490,197...173,510,656 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO OMIM NCBI chr11:67,083,378...67,160,747
Ensembl chr11:70,307,847...70,384,425 		JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased expression:leukocyte (human) RGD PMID:10861807 RGD:11541060 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779 		JBrowse link
G PML PML nuclear body scaffold ISO human PML/RARA gene fusion in a mouse model
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8616088 PMID:9122233 PMID:10742073 PMID:14706140 PMID:16788101 More... RGD:41404695 NCBI chr15:52,903,874...52,955,151
Ensembl chr15:71,658,884...71,710,883 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17712046 NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32417439 NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G RAP1GAP RAP1 GTPase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22614916 NCBI chr 1:20,790,076...20,860,511
Ensembl chr 1:21,754,733...21,824,405 		JBrowse link
G RARA retinoic acid receptor alpha ISO OMIM NCBI chr17:16,932,485...16,980,958 JBrowse link
G RETN resistin ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909 		JBrowse link
G ROCK1 Rho associated coiled-coil containing protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32417439 NCBI chr18:14,192,293...14,352,357
Ensembl chr18:17,833,047...17,990,086 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO CTD Direct Evidence: therapeutic CTD PMID:33120864 NCBI chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656 		JBrowse link
G SMO smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23867347 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400 		JBrowse link
G THBD thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16206674 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812 		JBrowse link
G TMEM127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Acute promyelocytic leukemia ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:103,049,655...103,065,116
Ensembl chr2A:97,174,322...97,189,171 		JBrowse link
G TOP2A DNA topoisomerase II alpha ISO ClinVar Annotator: match by term: Dna topoisomerase II, resistance to inhibition of, by amsacrine ClinVar PMID:1651812 NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207 		JBrowse link
G TRIB3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr20:583,267...605,416
Ensembl chr20:359,879...375,486 		JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:8387545 PMID:23208507 RGD:1599922 NCBI chr11:108,938,414...109,133,819
Ensembl chr11:112,780,380...112,977,164 		JBrowse link
adult T-cell leukemia 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 chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159 		JBrowse link
G BMP6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chr 6:7,564,164...7,720,341
Ensembl chr 6:7,848,249...8,000,649 		JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 7:3,166,788...3,304,729
Ensembl chr 7:3,258,736...3,332,999 		JBrowse link
G CCR4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:32,882,419...32,887,442
Ensembl chr 3:33,188,482...33,189,564 		JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:16,720,236...16,731,955
Ensembl chr17:16,949,119...16,956,370 		JBrowse link
G CD163 CD163 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023 		JBrowse link
G CD274 CD274 molecule disease_progression ISO RGD PMID:27418641 RGD:41412177 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402 		JBrowse link
G CD28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213 		JBrowse link
G CD68 CD68 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981 		JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chr 3:116,646,590...116,683,725
Ensembl chr 3:123,559,559...123,594,870 		JBrowse link
G CD86 CD86 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339 		JBrowse link
G CSNK1A1 casein kinase 1 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 5:144,919,775...144,977,105
Ensembl chr 5:150,929,420...150,985,912 		JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:689,494...752,092
Ensembl chr20:456,629...521,126 		JBrowse link
G CSNK2B casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:31,327,250...31,331,250 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498 		JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO protein:increased expression:peripheral blood mononuclear cell:
DNA:polymorphism:promoter: -670 G>A(human)		 RGD PMID:7513372 PMID:17962369 RGD:11049147 RGD:11049453 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		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:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029 		JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:109,469,750...109,684,086
Ensembl chr 6:113,545,944...113,604,451 		JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272 		JBrowse link
G GPR183 G protein-coupled receptor 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr13:80,461,908...80,475,046
Ensembl chr13:99,601,220...99,602,305 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 7:26,835,881...26,846,578
Ensembl chr 7:26,439,443...26,449,985 		JBrowse link
G ICOS inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734 		JBrowse link
G IFNG interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:8800741 PMID:23962110 RGD:10755707 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G IKZF2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr2B:100,255,430...100,407,395
Ensembl chr2B:218,737,506...218,882,087 		JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:8704212 PMID:23962110 RGD:11049460 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984 		JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581 		JBrowse link
G IL5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IRF4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654 		JBrowse link
G JAK3 Janus kinase 3 ISO DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964 		JBrowse link
G LOC100972354 interferon alpha-2 ISO CTD Direct Evidence: therapeutic CTD PMID:12560223 PMID:17077332 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736 		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 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194 		JBrowse link
G NOTCH1 notch receptor 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G PLCG1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145 		JBrowse link
G PRKCB protein kinase C beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr16:13,888,936...14,268,759
Ensembl chr16:24,091,289...24,466,203 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G TERF2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chr16:49,729,906...49,763,002
Ensembl chr16:69,116,539...69,148,423 		JBrowse link
G TLX1 T cell leukemia homeobox 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:1683261 PMID:1717256 RGD:1599439 NCBI chr10:97,731,715...97,738,978
Ensembl chr10:101,207,374...101,214,625 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822 		JBrowse link
G TP73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206 		JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr19:5,805,121...5,888,203
Ensembl chr19:6,726,578...6,806,112 		JBrowse link
alpha-thalassemia myelodysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome OMIM
ClinVar		 PMID:9326931 PMID:10995512 PMID:12858175 PMID:16955409 PMID:20500465 More... NCBI chr  X:66,682,968...66,969,421
Ensembl chr  X:76,795,574...77,083,486 		JBrowse link
AMED syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO ClinVar Annotator: match by term: AMED syndrome, digenic OMIM
ClinVar		 PMID:25741868 PMID:33355142 NCBI chr 4:91,470,304...91,487,854
Ensembl chr 4:102,134,375...102,151,902 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More... NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471 		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 chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735 		JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157164 NCBI chr14:82,700,881...82,707,020
Ensembl chr14:102,519,699...102,576,723 		JBrowse link
G IRF4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261581 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908157 PMID:17261581 NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr 7:19,761,041...19,765,665 JBrowse link
atypical chronic myeloid leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:15050920 RGD:11352668 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G SETBP1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23222956 NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453 		JBrowse link
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 4 OMIM
ClinVar		 PMID:3653362 PMID:20817635 PMID:25741868 PMID:26491070 NCBI chr 5:133,934,859...133,955,048
Ensembl chr 5:140,064,207...140,084,551 		JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLRX5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:76,162,541...76,172,291 JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive OMIM
ClinVar		 PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 More... NCBI chr 3:39,287,934...39,301,810
Ensembl chr 3:39,567,737...39,581,957 		JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLRX5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Sideroblastic anemia 3 OMIM
ClinVar		 PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 More... NCBI chr14:76,162,541...76,172,291 JBrowse link
Autosomal Sideroblastic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia ClinVar PMID:25741868 NCBI chr22:30,868,812...30,871,970
Ensembl chr22:49,978,955...49,982,099 		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: B Acute Lymphoblastic Leukemia ClinVar PMID:23623386 PMID:25741868 NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia ClinVar PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532 NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		JBrowse link
B-Cell Chronic Lymphocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) susceptibility ISO DNA:SNPs,haplotype: :rs1481012,rs2231142(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157 		JBrowse link
G ACOXL acyl-CoA oxidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr2A:90,912,247...91,300,770
Ensembl chr2A:111,985,358...112,335,160 		JBrowse link
G AICDA activation induced cytidine deaminase disease_progression ISO RGD PMID:21133730 RGD:11039455 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917 		JBrowse link
G APOE apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490 		JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G BCL11A BAF chromatin remodeling complex subunit BCL11A ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800 		JBrowse link
G BCL2 BCL2 apoptosis regulator severity
no_association
treatment		 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:B cell (human)
DNA:snp:promoter:g.-938C>A (human)		 CTD
RGD		 PMID:16960146 PMID:17296974 PMID:17959858 PMID:20001236 PMID:21750559 More... RGD:11522735 RGD:11526104 RGD:11526105 RGD:11526110 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		JBrowse link
G BMF Bcl2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr15:19,026,053...19,047,008
Ensembl chr15:37,281,655...37,302,075 		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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		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:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187 		JBrowse link
G C11H11orf21 chromosome 11 C11orf21 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr11:2,332,841...2,348,227
Ensembl chr11:2,361,217...2,367,568 		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 chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G CCDC50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr 3:188,621,004...188,686,831
Ensembl chr 3:196,968,817...197,031,790 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994 		JBrowse link
G CD40LG CD40 ligand ISO mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202 		JBrowse link
G CD5 CD5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr11:56,362,415...56,388,469
Ensembl chr11:59,801,808...59,826,448 		JBrowse link
G CD79B CD79b molecule ISO protein:decreased expression:B lymphocyte, cell surface (human)
mRNA, protein:splice variants, alternative forms:exon 3 (human)
DNA:polymorphism:multiple (human)		 RGD PMID:9269755 PMID:10090943 PMID:10552962 RGD:11250403 RGD:151665190 RGD:151665202 NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335 		JBrowse link
G CD86 CD86 molecule severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339 		JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr15:62,949,264...63,053,994
Ensembl chr15:80,443,096...80,526,948 		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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO RGD PMID:18077792 RGD:11251735 NCBI chr  X:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487 		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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr2B:128,627,208...128,766,233
Ensembl chr2B:247,438,265...247,559,735 		JBrowse link
G FAS Fas cell surface death receptor disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		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 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351 		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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605 		JBrowse link
G IFNG interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G IL10 interleukin 10 disease_progression
no_association		 ISO protein:increased expression:serum
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
DNA:SNPs: :multiple		 RGD PMID:10638947 PMID:19573080 PMID:22945689 RGD:11041895 RGD:11049165 RGD:11049174 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G IL19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 1:182,372,339...182,446,147
Ensembl chr 1:186,651,640...186,724,748 		JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G IL1B interleukin 1 beta severity ISO DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:		 RGD PMID:10870116 PMID:18271063 RGD:11051967 RGD:11522755 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:plasma:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10870116 PMID:18006695 RGD:11522755 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IRF4 interferon regulatory factor 4 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12079517 PMID:12393648 PMID:18758461 RGD:11526160 RGD:11530024 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654 		JBrowse link
G ITGA4 integrin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chr2B:68,719,376...68,802,488
Ensembl chr2B:186,530,187...186,612,203 		JBrowse link
G KLRC4 killer cell lectin like receptor C4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr12:10,418,672...10,449,250 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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 4:100,552,959...100,674,156
Ensembl chr 4:111,125,312...111,245,980 		JBrowse link
G LILRA4 leukocyte immunoglobulin like receptor A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr19:51,287,944...51,294,118
Ensembl chr19:60,128,447...60,134,248 		JBrowse link
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha disease_progression ISO DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chr20:55,190,607...55,262,245 JBrowse link
G LOC100991079 interleukin-1 receptor antagonist protein ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750 		JBrowse link
G MS4A1 membrane spanning 4-domains A1 ISO RGD PMID:19911856 RGD:2316994 NCBI chr11:55,691,750...55,706,697
Ensembl chr11:59,134,617...59,149,521 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		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:26619011 PMID:28492532 NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572 		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 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G P2RX7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chr12:118,731,761...118,786,039
Ensembl chr12:122,102,888...122,154,068 		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 chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067 		JBrowse link
G PLCG2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:24869598 NCBI chr16:62,383,270...62,561,579
Ensembl chr16:81,812,565...81,984,064 		JBrowse link
G PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr18:53,286,590...53,290,913
Ensembl chr18:56,611,098...56,615,449 		JBrowse link
G POLB DNA polymerase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 8:41,582,370...41,615,950
Ensembl chr 8:39,026,991...39,060,464 		JBrowse link
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr14:82,383,086...82,549,822
Ensembl chr14:102,206,396...102,372,978 		JBrowse link
G PRKD2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr19:43,666,591...43,710,858
Ensembl chr19:52,195,303...52,237,731 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		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:12717436 PMID:14644997 PMID:15385933 PMID:15710330 PMID:15928039 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G QPCT glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr2A:37,371,848...37,400,820
Ensembl chr2A:38,136,532...38,165,254 		JBrowse link
G RBL2 RB transcriptional corepressor like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr16:33,674,751...33,731,308
Ensembl chr16:52,759,290...52,816,175 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:23634996 PMID:25741868 PMID:26619011 NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:26619011 NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772 		JBrowse link
G SP140 SP140 nuclear body protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr2B:117,477,923...117,565,367
Ensembl chr2B:236,279,460...236,366,314 		JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO RGD PMID:17344921 RGD:11038662 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872 		JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998 		JBrowse link
G THBD thrombomodulin ISO RGD PMID:21812019 RGD:5685033 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812 		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 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a 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 chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044 		JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr13:23,750,835...23,784,740 JBrowse link
G TNFSF13 TNF superfamily member 13 ISO protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chr17:7,589,931...7,593,527
Ensembl chr17:7,576,465...7,579,834 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822 		JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 3:130,667,998...130,729,569
Ensembl chr 3:138,143,893...138,203,363 		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