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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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TissGeneSummary

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TissGeneExp

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TissGene-miRNA

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TissGeneMut: TissGeneSNV, TissGeneCNV, and TissGeneFusions

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TissGeneNet

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TissGeneProg

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TissGeneClin: TissGeneDrug and TissGeneDisease

TissGeneSummary for DOT1L
check button Gene summary
Basic gene informationGene symbolDOT1L
Gene nameDOT1-like histone H3K79 methyltransferase
SynonymsDOT1|KMT4
CytomapUCSC genome browser: 19p13.3
Type of geneprotein-coding
RefGenesNM_032482.2,
DescriptionDOT1-like proteinDOT1-like, histone H3 methyltransferaseH3-K79-HMTasehistone H3-K79 methyltransferasehistone methyltransferase DOT1Lhistone-lysine N-methyltransferase, H3 lysine-79 specificlysine N-methyltransferase 4
Modification date20141212
dbXrefs MIM : 607375
HGNC : HGNC
Ensembl : ENSG00000104885
HPRD : 10455
Vega : OTTHUMG00000150431
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DOT1L
BioGPS: 84444
PathwayNCI Pathway Interaction Database: DOT1L
KEGG: DOT1L
REACTOME: DOT1L
Pathway Commons: DOT1L
ContextiHOP: DOT1L
ligand binding site mutation search in PubMed: DOT1L
UCL Cancer Institute: DOT1L
Assigned class in TissGDB*C
Included tissue-specific gene expression resourcesHPA,GTEx
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx)Testis
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA)TGCT
Reference showing the relevant tissue of DOT1L
Description by TissGene annotationsCancer gene
TissgsLTS
Fused withTSGene
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C.

check button Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO termPubMed ID
GO:0034968histone lysine methylation17707234
GO:0046425regulation of JAK-STAT cascade22002246
GO:0034968histone lysine methylation17707234
GO:0046425regulation of JAK-STAT cascade22002246


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TissGeneExp for DOT1L

check button Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
gene exp


check button Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01)
gene isoform exp


check button Gene expressions across normal tissues of GTEx data
(GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct)
- Here, we shows the matched tissue types only among our 28 cancer types.
normal gene exp


check button Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
DEG exp

- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05)
Cancer typeMean(exp) in tumorMean(exp) in matched normalLog2FCP-val.FDR


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TissGene-miRNA for DOT1L

check button Significantly anti-correlated miRNAs of TissGene across 28 cancer types
(Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016)
(TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21)
(TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16)
(Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25))
Cancer typemiRNA idmiRNA accessionP-val.Coeff.# samples


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TissGeneMut for DOT1L
TissGeneSNV for DOT1L

check button nsSNV counts per each loci.
Different colors of circles represent different cancer types. Circle size denotes number of samples.
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)

* Click on the image to enlarge it in a new window.
SNV lollipop
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check button Somatic nucleotide variants of TissGene across 28 cancer types
(X-axis: cancer type and Y-axis: % of mutated samples)
The numbers in parentheses are numbers of samples with mutation (nsSNVs).
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)
SNV distribution

- nsSNVs sorted by frequency.
AAchangeCancer type# samples
p.G1386SCOAD8
p.G1386SREAD6
p.S1208FSKCM2
p.Q537EBRCA2
p.V1418LCOAD2
p.R411HUCEC2
p.S1008CCESC1
p.G1471ALUAD1
p.A591VSTAD1
p.P832LSKCM1
p.A519VKIRP1
p.E377*BLCA1
p.S775FSKCM1
p.F243CSKCM1
p.N280HCOAD1
p.R759CSTAD1
p.Q430*HNSC1
p.Q443*CESC1
p.S1492FSKCM1
p.S1035*LUAD1
p.D610YLIHC1
p.P481LSKCM1
p.V59ILUSC1
p.P389QSTAD1
p.K618NSKCM1
p.A740TSTAD1
p.E843DBLCA1
p.G1320ASKCM1
p.F1034LCOAD1
p.G137WESCA1
p.E348*LUAD1
p.M823ILIHC1
p.P742HSKCM1
p.S911LLUAD1
p.S458GSTAD1
p.M417RSKCM1
p.A195VLIHC1
p.G1305RSKCM1
p.M1479VBLCA1
p.P962SCESC1
p.M55VBLCA1
p.P1399RLIHC1
p.R469QUCEC1
p.A538TESCA1
p.D451YTHYM1
p.A768TLGG1
p.D157NBLCA1
p.Q1158RHNSC1
p.G919CACC1
p.K1409NCESC1
p.E682*LUAD1
p.Q439*CESC1
p.A195VKIRP1
p.K676ELIHC1
p.G91CSTAD1
p.S118LSTAD1
p.M198ICHOL1
p.D1333NCESC1
p.P776LSKCM1
p.G1018DSTAD1
p.R256WBLCA1
p.S1213FSKCM1
p.R409CPRAD1
p.T613MHNSC1
p.A935SUCEC1
p.S1457FSKCM1
p.S181CLUSC1
p.P1182LKIRP1
p.M417IBLCA1
p.S455FSKCM1
p.R1170WTHYM1
p.E46GBRCA1
p.M707VHNSC1
p.A353GLGG1
p.I1143LSKCM1
p.P664ALUAD1
p.N242SLIHC1
p.P813LLIHC1
p.D62EBRCA1
p.A435VSKCM1
p.A940TCOAD1
p.K90NLUAD1
p.D1250GSKCM1
p.G1054DTHCA1
p.P481SSKCM1
p.T1141ICOAD1
p.Q512HUCEC1
p.G412RSTAD1
p.P247SBLCA1
p.Q443XKIRP1
p.R1011WSTAD1
p.Q31HLUSC1
p.D50NBLCA1
p.A1056VSTAD1
p.R282KBLCA1
p.P1105LBLCA1
p.R593CCOAD1
p.P122RKIRP1
p.R1414WESCA1
p.A798TGBM1
p.A1364TLGG1
p.G246SBRCA1
p.R73MTHYM1
p.Q737KPRAD1
p.D1250NLGG1
p.E655*BLCA1
p.A1522TLUAD1
p.F257LSTAD1
p.I883TSTAD1
p.P474SSKCM1
p.Y115NBLCA1
p.E379KBLCA1
p.L111MSTAD1
p.R1170QKIRC1
p.S1512CBLCA1
p.G1408DPRAD1
p.C637GLUAD1
p.K1203IBLCA1
p.P422LSKCM1
p.P758LHNSC1
p.P1446LPRAD1
p.W208XKIRP1
p.A591TLUAD1
p.A1142DUCEC1
p.A54TCOAD1
p.E710KBLCA1
p.H35YBLCA1
p.A353GKIRP1
p.S1271FCESC1
p.P664LHNSC1
p.L1379MKIRP1
p.E248DBLCA1
p.V904MBLCA1
p.E1201DCESC1
p.F68LUCEC1
p.A1225VKIRP1
p.G115ALUSC1
p.A1430VPAAD1
p.K388MHNSC1
p.R1089QPRAD1
p.N522SUCEC1
p.S225LSKCM1
p.R593HCOAD1
p.M206IBLCA1
p.L704FSKCM1


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TissGeneCNV for DOT1L

check button Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples)
(TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16)
CNV


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TissGeneFusions for DOT1L

check button Fusion genes including TissGene
(ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01)
DatabaseSrcCancer typeSampleFusion geneORF5'-gene BP3'-gene BP
Chimerdb3.0ChiTaRsNAAA554469WDR74-DOT1Lchr11:62600524chr19:2230330
Chimerdb3.0ChiTaRsNABE772409DOT1L-NEAT1chr19:2225432chr11:65191174
Chimerdb3.0ChiTaRsNABF847841DOT1L-COL6A1chr19:2220143chr21:47419985
Chimerdb3.0ChiTaRsNABF850201DOT1L-COL6A1chr19:2220134chr21:47420032
Chimerdb3.0ChiTaRsNABF849519DOT1L-COL6A1chr19:2220134chr21:47419998
Chimerdb3.0ChiTaRsNABF850059DOT1L-COL6A1chr19:2220134chr21:47419956
Chimerdb3.0ChiTaRsNABF847846DOT1L-COL6A1chr19:2220134chr21:47420031
Chimerdb3.0ChiTaRsNABF847866COL6A1-DOT1Lchr21:47420141chr19:2219943
Chimerdb3.0ChiTaRsNABF850194DOT1L-COL6A1chr19:2220134chr21:47420007
Chimerdb3.0ChiTaRsNACV336274DOT1L-COL6A1chr19:2220127chr21:47419956
Chimerdb3.0FusionScanLGGTCGA-TM-A7CF-01ADOT1L-TECRIn-Framechr19:2194576chr19:14673336
Chimerdb3.0FusionScanLGGTCGA-TM-A7CF-02ADOT1L-TECRIn-Framechr19:2194576chr19:14673336
Chimerdb3.0TopHat-FusionLGGTCGA-TM-A7CF-02ADOT1L-TECRIn-Framechr19:2194575chr19:14673336
Chimerdb3.0TopHat-FusionLGGTCGA-TM-A7CF-01ADOT1L-TECRIn-Framechr19:2194575chr19:14673336
TCGAfusionPortalPRADABRCATCGA-OL-A66I-01ADOT1L-EPB41L2CDS-5UTRChr19:2180755Chr6:131277639
TCGAfusionPortalPRADAKIRCTCGA-A3-3325-01ADOT1L-ONECUT3Out-of-frameChr19:2207679Chr19:1775152
TCGAfusionPortalPRADASKCMTCGA-EB-A42Z-01AHIVEP3-DOT1L5UTR-CDSChr1:42094420Chr19:2180712


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TissGeneNet for DOT1L

check button Co-expressed gene networks based on protein-protein interaction data (CePIN)
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(PINA2 ppi data)
BRCA (tumor)BRCA (normal)
DOT1L, HIST3H3, CTNNB1, HIST1H2BB, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, MLLT6 (tumor)DOT1L, HIST3H3, CTNNB1, HIST1H2BB, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HIST1H1C, HNRNPM, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, MLLT6 (normal)
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COAD (tumor)COAD (normal)
DOT1L, HIST3H3, CTNNB1, HIST1H2BB, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, MLLT6 (tumor)DOT1L, HIST3H3, CTNNB1, HIST1H2BB, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, HIST1H2AA, MLLT6 (normal)
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HNSC (tumor)HNSC (normal)
DOT1L, HIST3H3, CTNNB1, HIST1H2BB, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, MLLT6 (tumor)DOT1L, HIST3H3, CTNNB1, HIST1H2BB, STAT1, TCF4, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, MLLT6 (normal)
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KICH (tumor)KICH (normal)
DOT1L, HIST3H3, CTNNB1, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, HIST1H2AA, MLLT6 (tumor)DOT1L, HIST3H3, CTNNB1, HIST1H2BB, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HIST1H1C, SYNCRIP, DDX21, AFF1, HIST1H1A, GRWD1, H1FX, HIST1H2AA, MLLT6 (normal)
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KIRC (tumor)KIRC (normal)
DOT1L, CTNNB1, HIST1H2BB, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, HIST1H2AA, MLLT6 (tumor)DOT1L, HIST3H3, CTNNB1, HIST1H2BB, STAT1, MLLT3, SIRT1, GNL3, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, HIST1H2AA, MLLT6 (normal)
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KIRP (tumor)KIRP (normal)
DOT1L, HIST3H3, CTNNB1, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, HIST1H2AA, MLLT6 (tumor)DOT1L, HIST3H3, CTNNB1, HIST1H2BB, STAT1, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, HIST1H1A, MLLT10, GRWD1, H1FX, HIST1H2AA, MLLT6 (normal)
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LIHC (tumor)LIHC (normal)
DOT1L, CTNNB1, HIST1H2BB, STAT1, TCF4, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, HIST1H2AA, MLLT6 (tumor)DOT1L, HIST3H3, HIST1H2BB, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, H1FX, HIST1H2AA, MLLT6 (normal)
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LUAD (tumor)LUAD (normal)
DOT1L, HIST3H3, CTNNB1, HIST1H2BB, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, MLLT10, GRWD1, H1FX, MLLT6 (tumor)DOT1L, HIST3H3, CTNNB1, HIST1H2BB, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, HIST1H2AA, MLLT6 (normal)
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LUSC (tumor)LUSC (normal)
DOT1L, HIST3H3, CTNNB1, HIST1H2BB, STAT1, TCF4, MLLT3, HNRNPU, GNL3, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, MLLT6 (tumor)DOT1L, HIST3H3, CTNNB1, HIST1H2BB, STAT1, TCF4, HNRNPU, SIRT1, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, HIST1H2AA, MLLT6 (normal)
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PRAD (tumor)PRAD (normal)
DOT1L, HIST3H3, CTNNB1, HIST1H2BB, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, HIST1H2AA, MLLT6 (tumor)DOT1L, HIST3H3, CTNNB1, HIST1H2BB, TCF4, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, MLLT6 (normal)
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STAD (tumor)STAD (normal)
DOT1L, HIST3H3, CTNNB1, HIST1H2BB, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX (tumor)DOT1L, HIST3H3, CTNNB1, HIST1H2BB, TCF4, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, HIST1H2AA, MLLT6 (normal)
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THCA (tumor)THCA (normal)
DOT1L, HIST3H3, CTNNB1, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HIST1H1C, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, MLLT6 (tumor)DOT1L, HIST3H3, CTNNB1, STAT1, TCF4, MLLT3, HNRNPU, SIRT1, GNL3, NPM1, MLLT1, HNRNPM, SYNCRIP, DDX21, AFF1, HIST1H1A, MLLT10, GRWD1, H1FX, HIST1H2AA, MLLT6 (normal)
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TissGeneProg for DOT1L

check button Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image to enlarge it in a new window.
survival 1

check button Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 2

check button Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 3

check button Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 4

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TissGeneClin for DOT1L
TissGeneDrug for DOT1L

check button Drug information targeting TissGene
(DrugBank Version 5.0.6, 2017-04-01)
DrugBank IDDrug nameDrug activityDrug typeDrug status


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TissGeneDisease for DOT1L

check button Disease information associated with TissGene
(DisGeNet, 2016-06-01)
Disease IDDisease name# pubmedsSource
umls:C0023418leukemia13BeFree
umls:C0598766Leukemogenesis3BeFree
umls:C0023467Leukemia, Myelocytic, Acute2BeFree
umls:C0029408Degenerative polyarthritis2BeFree,GWASCAT
umls:C0596263Carcinogenesis2BeFree
umls:C0006142Malignant neoplasm of breast1BeFree
umls:C0007193Cardiomyopathy, Dilated1BeFree
umls:C0009402Colorectal Carcinoma1BeFree
umls:C0011881Diabetic Nephropathy1BeFree
umls:C0024299Lymphoma1BeFree
umls:C0027051Myocardial Infarction1BeFree
umls:C0030312Pancytopenia1BeFree
umls:C0032617Polyuria1BeFree
umls:C0042769Virus Diseases1BeFree
umls:C0409959Osteoarthritis, Knee1BeFree
umls:C0678222Breast Carcinoma1BeFree
umls:C1527249Colorectal Cancer1BeFree
umls:C1449563Cardiomyopathy, Familial Idiopathic0MGD