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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 lymphoblastic leukemia
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Accession:HP:0006721 term browser browse the term
Definition:A form of acute leukemia characterized by excess lympoblasts.
Synonyms:exact_synonym: Acute lymphatic leukaemia;   Acute lymphatic leukemia;   Acute lymphoblastic leukaemia;   Acute lymphocytic leukaemia;   Acute lymphocytic leukemia;   Acute lymphoid leukaemia;   Acute lymphoid leukemia
 alt_id: HP:0004803;   HP:0005555
 xref: EFO:0000220;   SNOMEDCT_US:128822004;   SNOMEDCT_US:91857003;   UMLS:C0023449


show annotations for term's descendants           Sort by:
Acute lymphoblastic leukemia term browser
Symbol Object Name 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:9590181 PMID:9620777 PMID:10398434 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 ClinVar Annotator: match by term: Acute lymphoid leukemia HPO
ClinVar		 PMID:25741868 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
B Acute Lymphoblastic Leukemia term browser
Symbol Object Name 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:9580660 PMID:23623386 PMID:25741868 PMID:28492532 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 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 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 95636
    Phenotypic abnormality 95258
      Abnormality of blood and blood-forming tissues 6590
        Abnormal leukocyte morphology 3235
          Leukemia 2546
            Acute leukemia 2164
              Acute lymphoblastic leukemia 258
                B Acute Lymphoblastic Leukemia 124
                Ph-positive acute lymphoblastic leukemia 2
                T-cell acute lymphoblastic leukemias 5
Path 2
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the immune system 12676
        Abnormal immune system morphology 3279
          Abnormal cellular immune system morphology 3235
            Abnormal leukocyte morphology 3235
              Leukemia 2546
                Acute leukemia 2164
                  Acute lymphoblastic leukemia 258
                    B Acute Lymphoblastic Leukemia 124
                    Ph-positive acute lymphoblastic leukemia 2
                    T-cell acute lymphoblastic leukemias 5
paths to the root