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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Acute leukemia
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Accession:HP:0002488 term browser browse the term
Definition:A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).
Synonyms:exact_synonym: Acute leukaemia;   Acute leukemias
 broad_synonym: Acute blood cancer
 xref: EFO:1000068;   SNOMEDCT_US:24072005;   SNOMEDCT_US:91855006;   UMLS:C0085669;   UMLS:C4280572



show annotations for term's descendants           Sort by:
Acute leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:231401 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G CALR calreticulin IAGP HPO ORPHA:3318 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:289 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO ORPHA:289 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO ORPHA:289 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO ORPHA:228423 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO ORPHA:289 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:3318 ORPHA:729 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:99812 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:3318 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G NBN nibrin IAGP HPO ORPHA:647 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:3474 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO ORPHA:289 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO ORPHA:289 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP HPO ORPHA:3318 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
JBrowse link
G STS steroid sulfatase IAGP HPO ORPHA:281090 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:3318 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TP53 tumor protein p53 IAGP HPO MIM:151623 ORPHA:3318 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:2770 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO ORPHA:2770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO ORPHA:99812 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787
JBrowse link
Acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO MIM:208900 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G BAX BCL2 associated X, apoptosis regulator IAGP HPO MIM:613065 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP ClinVar Annotator: match by term: Acute lymphocytic leukemia ClinVar
HPO
PMID:25741868 PMID:28492532 MIM:613065 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ClinVar Annotator: match by term: Acute lymphocytic leukemia HPO
ClinVar
PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 More... ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2B-AS1 CDKN2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr 9:21,994,791...22,128,142
Ensembl chr 9:21,994,139...22,212,895
JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO ORPHA:1052 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:486 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:486 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G ERG ETS transcription factor ERG IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr21:38,367,261...38,661,783
Ensembl chr21:38,380,027...38,661,780
JBrowse link
G ETV6 ETS variant transcription factor 6 IAGP ClinVar Annotator: match by term: Acute lymphoblastic leukemia ClinVar PMID:26102509 NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377
JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar
HPO
PMID:11290608 PMID:11442493 PMID:14670924 MIM:613065 NCBI chr13:28,003,274...28,100,576
Ensembl chr13:28,003,274...28,100,592
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP HPO ORPHA:486 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925
JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Acute lymphoblastic leukemia
ClinVar Annotator: match by term: Acute lymphocytic leukemia
ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar
HPO
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... MIM:613065 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292
JBrowse link
G HAX1 HCLS1 associated protein X-1 IAGP HPO MIM:610738 NCBI chr 1:154,272,629...154,275,875
Ensembl chr 1:154,272,355...154,275,875
JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar Annotator: match by term: Acute lymphocytic leukemia
ClinVar
HPO
PMID:25741868 PMID:27993330 PMID:28492532 MIM:616873 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G LIG4 DNA ligase 4 IAGP HPO MIM:606593 ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LOC105376032 uncharacterized LOC105376032 IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:25741868 PMID:27993330 NCBI chr 9:37,002,193...37,009,052 JBrowse link
G LOC126860438 MED14-independent group 3 enhancer GRCh37_chr8:90959982-90961181 IAGP ClinVar Annotator: match by term: Acute lymphocytic leukemia ClinVar PMID:9590180 PMID:16415040 PMID:23555315 PMID:24763289 PMID:25186627 More... NCBI chr 8:89,947,754...89,948,953 JBrowse link
G LOC126861452 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12037195-12038394 IAGP ClinVar Annotator: match by term: Acute lymphoblastic leukemia ClinVar PMID:26102509 NCBI chr12:11,884,261...11,885,460 JBrowse link
G LOC130001608 ATAC-STARR-seq lymphoblastoid silent region 19815 IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr 9:22,008,647...22,008,846 JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO MIM:605275 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G NBN nibrin IAGP ClinVar Annotator: match by term: Acute lymphatic leukemia
ClinVar Annotator: match by term: Acute lymphocytic leukemia
ClinVar Annotator: match by term: Acute lymphoblastic leukemia
ClinVar
HPO
PMID:2952226 PMID:9590180 PMID:11325820 PMID:12353271 PMID:12376507 More... MIM:613065 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G NUP214 nucleoporin 214 IAGP HPO MIM:613065 NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,573...131,234,663
JBrowse link
G PAX5 paired box 5 IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:25741868 PMID:27993330 PMID:30643249 NCBI chr 9:36,833,269...37,034,268
Ensembl chr 9:36,833,269...37,034,268
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO MIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G SRP19 signal recognition particle 19 IAGP HPO ORPHA:486 NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371
JBrowse link
G TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor IAGP HPO MIM:613065 NCBI chr 1:47,216,290...47,232,335
Ensembl chr 1:47,216,290...47,232,225
JBrowse link
G TAL2 TAL bHLH transcription factor 2 IAGP HPO MIM:613065 NCBI chr 9:105,662,457...105,663,124
Ensembl chr 9:105,662,457...105,663,124
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:486 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
JBrowse link
Acute megakaryocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CORO7 coronin 7 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr16:4,354,542...4,416,596
Ensembl chr16:4,354,542...4,425,705
JBrowse link
G CORO7-PAM16 CORO7-PAM16 readthrough IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr16:4,340,251...4,416,596
Ensembl chr16:4,340,251...4,420,494
JBrowse link
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar PMID:15070711 PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 More... NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311
JBrowse link
G JAK3 Janus kinase 3 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr 6:37,630,679...37,697,883
Ensembl chr 6:37,630,679...37,699,306
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
JBrowse link
G PCF11 PCF11 cleavage and polyadenylation factor subunit IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr11:83,157,131...83,187,451
Ensembl chr11:83,156,988...83,187,451
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar PMID:9735393 PMID:10848731 PMID:10866302 PMID:16773562 PMID:17941496 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G RASAL3 RAS protein activator like 3 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr19:15,451,624...15,464,544
Ensembl chr19:15,451,624...15,464,544
JBrowse link
G SLC9A2 solute carrier family 9 member A2 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr 2:102,619,553...102,711,355
Ensembl chr 2:102,619,553...102,711,355
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar PMID:11370630 PMID:20522432 PMID:25741868 PMID:28492532 PMID:33300245 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
Acute monocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELANE elastase, neutrophil expressed IAGP HPO MIM:202700 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Acute monoblastic leukemia ClinVar PMID:25741868 PMID:28492532 PMID:29290338 PMID:33471991 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO MIM:601399 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO ORPHA:137605 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249
JBrowse link
Acute myeloid leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:124 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide IAGP HPO MIM:619151 NCBI chr 4:99,070,978...99,088,788
Ensembl chr 4:99,070,978...99,088,801
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G ATG2B autophagy related 2B IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,279,195...96,363,341
Ensembl chr14:96,279,195...96,363,341
JBrowse link
G BCOR BCL6 corepressor IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G BDKRB1 bradykinin receptor B1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
JBrowse link
G BDKRB2 bradykinin receptor B2 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166
JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO MIM:605724 MIM:613029 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G C14orf132 chromosome 14 open reading frame 132 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,039,362...96,093,971
Ensembl chr14:96,039,362...96,093,971
JBrowse link
G CBFB core-binding factor subunit beta IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:25741868 PMID:36241386 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Leukemia, acute myelogenous
ClinVar
HPO
PMID:11242107 PMID:12661007 PMID:12692518 PMID:14726504 PMID:15575056 More... MIM:601626 NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CHIC2 cysteine rich hydrophobic domain 2 IAGP HPO MIM:601626 NCBI chr 4:54,009,789...54,091,879
Ensembl chr 4:53,994,803...54,064,605
JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:486 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
JBrowse link
G DDX41 DEAD-box helicase 41 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
HPO
ClinVar
PMID:25741868 PMID:25920683 PMID:26712909 PMID:27133828 PMID:28492532 More... MIM:616871 NCBI chr 5:177,511,577...177,516,961
Ensembl chr 5:177,511,577...177,516,961
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO MIM:305000 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia HPO
ClinVar
PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 PMID:30755392 MIM:260400 MIM:617052 ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar
HPO
PMID:21067377 PMID:22722925 PMID:24614070 PMID:24622842 PMID:24656771 More... MIM:601626 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:486 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP HPO MIM:133180 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
JBrowse link
G ETV6 ETS variant transcription factor 6 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar
HPO
PMID:15806161 PMID:25581430 PMID:25741868 PMID:25807284 PMID:27666367 More... MIM:601626 NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377
JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:17436244 PMID:23613520 PMID:25741868 PMID:28492532 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar
HPO
PMID:11290608 PMID:11442493 PMID:12384447 PMID:14670924 PMID:25741868 MIM:601626 NCBI chr13:28,003,274...28,100,576
Ensembl chr13:28,003,274...28,100,592
JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:124 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311
JBrowse link
G GATA2 GATA binding protein 2 IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
HPO
PMID:21892158 PMID:21892162 PMID:23502222 PMID:24033149 PMID:24077845 More... MIM:601626 MIM:614038 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP HPO MIM:607847 ORPHA:486 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925
JBrowse link
G GPATCH1 G-patch domain containing 1 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:33,081,181...33,130,542
Ensembl chr19:33,080,899...33,130,542
JBrowse link
G GSKIP GSK3B interacting protein IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,363,526...96,387,290
Ensembl chr14:96,363,452...96,387,288
JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar PMID:25741868 PMID:27993330 PMID:29950729 PMID:30231226 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G INSL6 insulin like 6 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 9:4,991,976...5,185,639
Ensembl chr 9:5,123,880...5,185,647
JBrowse link
G JAK1 Janus kinase 1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754
JBrowse link
G JAK2 Janus kinase 2 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar
HPO
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... MIM:601626 ORPHA:71493 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar
HPO
PMID:7513208 PMID:8589724 PMID:9657776 PMID:19865100 PMID:24728327 More... MIM:601626 ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G KLK2 kallikrein related peptidase 2 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:25741868 PMID:37593117 NCBI chr19:50,873,439...50,880,567
Ensembl chr19:50,861,568...50,880,567
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myeloblastic leukemia
ClinVar
HPO
PMID:7773929 PMID:8246952 PMID:8439212 PMID:8955068 PMID:9362444 More... MIM:601626 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32321774 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G LOC107303338 3p25 FANCD2 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:17436244 PMID:23613520 PMID:25741868 PMID:28492532 NCBI chr 3:10,030,947...10,078,653 JBrowse link
G LOC107984703 uncharacterized LOC107984703 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,715,483...95,756,779 JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:1,294,628...1,298,988 JBrowse link
G LOC112272571 Sharpr-MPRA regulatory region 11883 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,363,212...96,364,247 JBrowse link
G LOC126805749 BRD4-independent group 4 enhancer GRCh37_chr1:65312286-65313485 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr 1:64,846,284...64,847,802 JBrowse link
G LOC126807619 MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:12464997 PMID:25741868 PMID:28492532 NCBI chr 5:177,269,442...177,270,641 JBrowse link
G LOC126861451 BRD4-independent group 4 enhancer GRCh37_chr12:11991350-11992549 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:15806161 NCBI chr12:11,838,416...11,839,615 JBrowse link
G LOC126862036 MED14-independent group 3 enhancer GRCh37_chr14:96357499-96358698 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,891,162...95,892,361 JBrowse link
G LOC126862037 CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:96552361-96553560 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,086,024...96,087,223 JBrowse link
G LOC126862038 CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:96734992-96736191 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,268,655...96,269,854 JBrowse link
G LOC129390666 MPRA-validated peak2244 silencer IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,935,319...95,935,519 JBrowse link
G LOC129934333 ATAC-STARR-seq lymphoblastoid silent region 11759 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:20923864 PMID:25741868 PMID:28492532 NCBI chr 2:96,265,257...96,265,566 JBrowse link
G LOC130056381 ATAC-STARR-seq lymphoblastoid active region 8971 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,697,817...95,697,906 JBrowse link
G LOC130056382 ATAC-STARR-seq lymphoblastoid active region 8972 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,699,577...95,699,766 JBrowse link
G LOC130056383 ATAC-STARR-seq lymphoblastoid active region 8973 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,712,186...95,712,285 JBrowse link
G LOC130056384 ATAC-STARR-seq lymphoblastoid active region 8974 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,712,326...95,712,485 JBrowse link
G LOC130056385 ATAC-STARR-seq lymphoblastoid active region 8975 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,712,526...95,712,745 JBrowse link
G LOC130056386 ATAC-STARR-seq lymphoblastoid active region 8976 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,713,860...95,713,909 JBrowse link
G LOC130056387 ATAC-STARR-seq lymphoblastoid silent region 6050 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,714,140...95,714,379 JBrowse link
G LOC130056388 ATAC-STARR-seq lymphoblastoid active region 8977 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,726,228...95,726,327 JBrowse link
G LOC130056389 ATAC-STARR-seq lymphoblastoid active region 8978 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,726,348...95,726,417 JBrowse link
G LOC130056390 ATAC-STARR-seq lymphoblastoid active region 8979 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,729,680...95,729,829 JBrowse link
G LOC130056391 ATAC-STARR-seq lymphoblastoid active region 8980 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,729,890...95,729,969 JBrowse link
G LOC130056392 ATAC-STARR-seq lymphoblastoid silent region 6051 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,039,212...96,039,401 JBrowse link
G LOC130056393 ATAC-STARR-seq lymphoblastoid silent region 6052 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,039,422...96,039,471 JBrowse link
G LOC130056394 ATAC-STARR-seq lymphoblastoid active region 8981 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,052,146...96,052,205 JBrowse link
G LOC130056395 ATAC-STARR-seq lymphoblastoid active region 8982 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,078,108...96,078,157 JBrowse link
G LOC130056396 ATAC-STARR-seq lymphoblastoid active region 8983 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,126,370...96,126,539 JBrowse link
G LOC130056397 ATAC-STARR-seq lymphoblastoid active region 8985 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,361,901...96,361,970 JBrowse link
G LOC130064183 ATAC-STARR-seq lymphoblastoid silent region 10495 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar PMID:25741868 PMID:28492532 NCBI chr19:33,302,365...33,302,934 JBrowse link
G LOC132090293 Neanderthal introgressed variant-containing enhancer experimental_38841 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,092,173...96,092,342 JBrowse link
G LOC132090294 Neanderthal introgressed variant-containing enhancer experimental_38870 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,286,395...96,286,564 JBrowse link
G LPP LIM domain containing preferred translocation partner in lipoma IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar
HPO
PMID:25741868 MIM:601626 NCBI chr 3:188,153,021...188,890,671
Ensembl chr 3:188,153,284...188,890,671
JBrowse link
G LRP3 LDL receptor related protein 3 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:33,194,330...33,208,864
Ensembl chr19:33,177,603...33,208,864
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase IAGP HPO MIM:619975 NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179
JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:3243 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MFSD11 major facilitator superfamily domain containing 11 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar NCBI chr17:76,736,634...76,803,805
Ensembl chr17:76,735,865...76,781,449
JBrowse link
G MLF1 myeloid leukemia factor 1 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar NCBI chr 3:158,571,194...158,606,456
Ensembl chr 3:158,571,163...158,607,252
JBrowse link
G MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar
HPO
PMID:25741868 MIM:601626 NCBI chr10:21,533,756...21,743,630
Ensembl chr10:21,524,646...21,743,630
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:71493 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G NPM1 nucleophosmin 1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
HPO
PMID:15659725 PMID:20026798 PMID:25741868 PMID:28492532 PMID:32581362 MIM:601626 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar PMID:3102434 PMID:18633438 PMID:25741868 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:17565729 More... NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G NUP214 nucleoporin 214 IAGP HPO MIM:601626 NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,573...131,234,663
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO MIM:610832 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
JBrowse link
G PHF6 PHD finger protein 6 severity IAGP DNA:mutations:multiple RGD PMID:31186809 RGD:155260286 NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791
JBrowse link
G PICALM phosphatidylinositol binding clathrin assembly protein IAGP HPO MIM:601626 NCBI chr11:85,957,175...86,069,860
Ensembl chr11:85,957,175...86,069,882
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32321774 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP HPO ORPHA:3243 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
JBrowse link
G RHPN2 rhophilin Rho GTPase binding protein 2 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:32,978,592...33,064,888
Ensembl chr19:32,978,592...33,064,888
JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO ORPHA:124 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835
JBrowse link
G RPL15 ribosomal protein L15 IAGP HPO ORPHA:124 NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374
JBrowse link
G RPL18 ribosomal protein L18 IAGP HPO ORPHA:124 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184
JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO ORPHA:124 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
JBrowse link
G RPL27 ribosomal protein L27 IAGP HPO ORPHA:124 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959
JBrowse link
G RPL31 ribosomal protein L31 IAGP HPO ORPHA:124 NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032
JBrowse link
G RPL35 ribosomal protein L35 IAGP HPO ORPHA:124 NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981
JBrowse link
G RPL35A ribosomal protein L35a IAGP HPO ORPHA:124 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610
JBrowse link
G RPL5 ribosomal protein L5 IAGP HPO ORPHA:124 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924
JBrowse link
G RPL8 ribosomal protein L8 IAGP HPO ORPHA:124 NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587
JBrowse link
G RPL9 ribosomal protein L9 IAGP HPO ORPHA:124 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931
JBrowse link
G RPS10 ribosomal protein S10 IAGP HPO ORPHA:124 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069
JBrowse link
G RPS14 ribosomal protein S14 IAGP HPO ORPHA:86841 NCBI chr 5:150,442,635...150,449,739
Ensembl chr 5:150,442,635...150,449,739
JBrowse link
G RPS15A ribosomal protein S15a IAGP HPO ORPHA:124 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383
JBrowse link
G RPS17 ribosomal protein S17 IAGP HPO ORPHA:124 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459
JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO ORPHA:124 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:124 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
JBrowse link
G RPS24 ribosomal protein S24 IAGP HPO ORPHA:124 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813
JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO ORPHA:124 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
JBrowse link
G RPS27 ribosomal protein S27 IAGP HPO ORPHA:124 NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155
JBrowse link
G RPS28 ribosomal protein S28 IAGP HPO ORPHA:124 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340
JBrowse link
G RPS29 ribosomal protein S29 IAGP HPO ORPHA:124 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164
JBrowse link
G RPS7 ribosomal protein S7 IAGP HPO ORPHA:124 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:16199547 PMID:23453664 PMID:23959892 PMID:25607374 PMID:25741868 More... NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:16199547 PMID:23453664 PMID:23959892 PMID:25607374 PMID:25741868 More... NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
HPO
PMID:12172547 PMID:16199547 PMID:18723428 PMID:19808697 PMID:20722699 More... MIM:601399 MIM:601626 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G RUNX1-AS1 RUNX1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar PMID:16199547 PMID:18723428 PMID:19808697 PMID:20722699 PMID:24100448 More... NCBI chr21:34,836,313...34,885,052
Ensembl chr21:34,836,286...34,884,882
JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP HPO MIM:619041 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO MIM:252270 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO MIM:260400 ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
HPO
ClinVar
ORPHA:75564 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
JBrowse link
G SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar
HPO
PMID:25741868 MIM:601626 NCBI chr19:4,360,370...4,400,547
Ensembl chr19:4,360,370...4,400,547
JBrowse link
G SLC7A10 solute carrier family 7 member 10 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:33,208,664...33,225,850
Ensembl chr19:33,208,664...33,225,850
JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069
JBrowse link
G SRP19 signal recognition particle 19 IAGP HPO ORPHA:486 NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371
JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO MIM:260400 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686
JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar
HPO
ORPHA:98849 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:486 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TCL1A TCL1 family AKT coactivator A IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,709,947...95,714,125
Ensembl chr14:95,709,947...95,714,196
JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
HPO
PMID:15814878 PMID:16247010 PMID:17392301 PMID:17460043 PMID:18042801 More... MIM:601626 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:75564 ORPHA:98849 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TGM6 transglutaminase 6 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:21106500 PMID:23206699 PMID:24755948 PMID:25253745 PMID:26467025 More... NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753
JBrowse link
G THPO thrombopoietin IAGP HPO ORPHA:71493 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
JBrowse link
G TMEM127 transmembrane protein 127 IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia ClinVar PMID:20923864 PMID:25741868 PMID:28492532 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar
HPO
PMID:253702 PMID:1631137 PMID:1631151 PMID:1975675 PMID:1978757 More... ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:25741868 PMID:26580448 PMID:28492532 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO ORPHA:124 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032
JBrowse link
G TUNAR transmembrane neural differentiation associated intracellular calcium regulator IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,876,448...95,925,571
Ensembl chr14:95,866,587...95,925,663
JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar NCBI chr21:43,092,956...43,107,578
Ensembl chr21:43,092,956...43,107,570
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO MIM:616435 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
JBrowse link
G WDR88 WD repeat domain 88 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:33,132,114...33,175,799
Ensembl chr19:33,132,090...33,175,799
JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar PMID:25145932 PMID:25741868 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 IAGP DNA:missense mutations:multiple (human) RGD PMID:22343920 RGD:151232292 NCBI chr  X:15,790,484...15,823,260
Ensembl chr  X:15,790,156...15,830,694
JBrowse link
Acute myelomonocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO MIM:159550 ORPHA:2585 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385
JBrowse link
Acute promyelocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP002490.1 novel transcript IAGP ClinVar Annotator: match by term: Acute promyelocytic leukemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:72,014,291...72,020,910
Ensembl chr11:72,014,291...72,020,910
JBrowse link
G IL18BP interleukin 18 binding protein IAGP ClinVar Annotator: match by term: Acute promyelocytic leukemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:71,998,909...72,008,200
Ensembl chr11:71,998,613...72,007,315
JBrowse link
G LOC129934333 ATAC-STARR-seq lymphoblastoid silent region 11759 IAGP ClinVar Annotator: match by term: Acute promyelocytic leukemia ClinVar PMID:25741868 PMID:28492532 PMID:32575117 NCBI chr 2:96,265,257...96,265,566 JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ClinVar Annotator: match by term: Acute promyelocytic leukemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693
JBrowse link
G RARA retinoic acid receptor alpha IAGP HPO MIM:612376 NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO ORPHA:77293 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
JBrowse link
G TMEM127 transmembrane protein 127 IAGP ClinVar Annotator: match by term: Acute promyelocytic leukemia ClinVar PMID:25741868 PMID:28492532 PMID:32575117 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
JBrowse link
B Acute Lymphoblastic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated IAGP HPO MIM:613029 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:23623386 PMID:25741868 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G ETV6 ETS variant transcription factor 6 IAGP HPO MIM:616216 NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377
JBrowse link
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 More... NCBI chr11:32,430,169...32,437,423 JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G TCF3 transcription factor 3 IAGP HPO MIM:619824 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 More... NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
Ph-positive acute lymphoblastic leukemia 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 IAGP HPO MIM:608232 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO MIM:608232 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
T-cell acute lymphoblastic leukemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAX BCL2 associated X, apoptosis regulator IAGP ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemias ClinVar PMID:9531611 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL10 BCL10 immune signaling adaptor IAGP ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemias ClinVar PMID:9989495 NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO MIM:605724 MIM:613029 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G DUT deoxyuridine triphosphatase IAGP HPO MIM:620044 NCBI chr15:48,331,095...48,343,373
Ensembl chr15:48,331,011...48,343,373
JBrowse link
G MSH2 mutS homolog 2 IAGP HPO MIM:619096 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of blood and blood-forming tissues 6338
        Abnormal leukocyte morphology 3160
          Leukemia 2566
            Acute leukemia 2173
              Acute lymphoblastic leukemia + 264
              Acute megakaryocytic leukemia 11
              Acute monocytic leukemia 4
              Acute myeloid leukemia 1895
              Acute myelomonocytic leukemia 2
              Acute promyelocytic leukemia 7
              Biphenotypic acute leukemia 0
Path 2
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of the immune system 12995
        Abnormal immune system morphology 3196
          Abnormal cellular immune system morphology 3160
            Abnormal leukocyte morphology 3160
              Leukemia 2566
                Acute leukemia 2173
                  Acute lymphoblastic leukemia + 264
                  Acute megakaryocytic leukemia 11
                  Acute monocytic leukemia 4
                  Acute myeloid leukemia 1895
                  Acute myelomonocytic leukemia 2
                  Acute promyelocytic leukemia 7
                  Biphenotypic acute leukemia 0
paths to the root