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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 KIT
check button Gene summary
Basic gene informationGene symbolKIT
Gene namev-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
SynonymsC-Kit|CD117|PBT|SCFR
CytomapUCSC genome browser: 4q12
Type of geneprotein-coding
RefGenesNM_000222.2,
NM_001093772.1,
Descriptionmast/stem cell growth factor receptor Kitp145 c-kitpiebald trait proteinproto-oncogene c-Kitproto-oncogene tyrosine-protein kinase Kitsoluble KIT variant 1tyrosine-protein kinase Kitv-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein
Modification date20141222
dbXrefs MIM : 164920
HGNC : HGNC
Ensembl : ENSG00000157404
HPRD : 01287
Vega : OTTHUMG00000128713
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_KIT
BioGPS: 3815
PathwayNCI Pathway Interaction Database: KIT
KEGG: KIT
REACTOME: KIT
Pathway Commons: KIT
ContextiHOP: KIT
ligand binding site mutation search in PubMed: KIT
UCL Cancer Institute: KIT
Assigned class in TissGDB*C
Included tissue-specific gene expression resourcesTiGER,GTEx
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx)BreastOvary
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA)BRCAOV
Reference showing the relevant tissue of KIT
Description by TissGene annotationsCancer gene
Have significant anti-correlated miRNA
* 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:0000187activation of MAPK activity21640708
GO:0002551mast cell chemotaxis20100931
GO:0018108peptidyl-tyrosine phosphorylation21640708
GO:0019221cytokine-mediated signaling pathway21640708
GO:0031532actin cytoskeleton reorganization1721869
GO:0032762mast cell cytokine production20100931
GO:0038093Fc receptor signaling pathway20100931
GO:0038109Kit signaling pathway17662946
GO:0046777protein autophosphorylation21640708
GO:0060326cell chemotaxis1721869
GO:0000187activation of MAPK activity21640708
GO:0002551mast cell chemotaxis20100931
GO:0018108peptidyl-tyrosine phosphorylation21640708
GO:0019221cytokine-mediated signaling pathway21640708
GO:0031532actin cytoskeleton reorganization1721869
GO:0032762mast cell cytokine production20100931
GO:0038093Fc receptor signaling pathway20100931
GO:0038109Kit signaling pathway17662946
GO:0046777protein autophosphorylation21640708
GO:0060326cell chemotaxis1721869


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TissGeneExp for KIT

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
PRAD-0.5458695030.751890113-1.2977596151.06E-079.98E-07
BRCA0.8955177784.262181813-3.3666640354.96E-348.49E-33
KIRP-0.8704226282.168467997-3.0388906251.14E-076.80E-07
THCA0.0971927863.586747023-3.4895542378.52E-235.89E-21
HNSC-1.4405700840.563836893-2.0044069774.02E-095.45E-08
KIRC0.3522207752.511131886-2.1589111116.02E-225.40E-21
KICH5.2587274972.5234394972.7352881.17E-075.31E-07
LUSC0.4078515762.423820203-2.0159686271.95E-075.30E-07
COAD-1.0267637331.394474728-2.4212384622.59E-114.45E-10
STAD-0.3392976281.850871122-2.190168753.94E-081.34E-06
ESCA-0.0384626842.531964588-2.5704272730.0005350.009595484
BLCA-0.790607661.396181813-2.1867894748.18E-050.000931584


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TissGene-miRNA for KIT

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
UCShsa-miR-19a-3pMIMAT00000730.046-0.2756
UCShsa-miR-454-3pMIMAT00038850.042-0.2856
UCShsa-miR-18a-5pMIMAT00000720.033-0.2956
UCShsa-miR-199b-5pMIMAT00002630.028-0.356
UCShsa-miR-301a-3pMIMAT00006880.016-0.3256
UCShsa-miR-148a-3pMIMAT00002430.017-0.3256
UCShsa-miR-452-5pMIMAT00016350.015-0.3356


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TissGeneMut for KIT
TissGeneSNV for KIT

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.K642ESKCM6
p.D816YTGCT5
p.D816HTGCT4
p.D816VLAML4
p.V559ASKCM3
p.D816VTGCT3
p.N822KTGCT3
p.L576PSKCM2
p.N822YTGCT2
p.A829PTGCT2
p.R956QTHCA1
p.V407FTHYM1
p.S197XLIHC1
p.M552LLUSC1
p.I83MHNSC1
p.H973RHNSC1
p.K642NSTAD1
p.D851GUCS1
p.P212SPAAD1
p.D737NCHOL1
p.T847MLIHC1
p.R946QREAD1
p.R49HOV1
p.N822KSKCM1
p.D361HTHCA1
p.L576PTGCT1
p.P206SCOAD1
p.Y418SLAML1
p.Q556HESCA1
p.S44PLUAD1
p.E490*UCEC1
p.V204AUCEC1
p.I957TOV1
p.V64GLGG1
p.A781TUCEC1
p.V668ABLCA1
p.S197LLIHC1
p.L14RBLCA1
p.S261RPAAD1
p.V845ASTAD1
p.L637PLIHC1
p.S123FSKCM1
p.E562GLGG1
p.V111AHNSC1
p.E270KHNSC1
p.C906RSARC1
p.R804WUCEC1
p.A219GSTAD1
p.M882ILUSC1
p.I438LCOAD1
p.A280VBRCA1
p.R739KUCEC1
p.T245MSKCM1
p.G961SOV1
p.R122HESCA1
p.T302ILUAD1
p.S365TLGG1
p.V559GTHYM1
p.V972MUCEC1
p.D361ETHCA1
p.D696YLIHC1
p.P573QLIHC1
p.S937PESCA1
p.R49HCOAD1
p.R122HCOAD1
p.W557CTGCT1
p.S244*HNSC1
p.E53GSTAD1
p.E435KUCEC1
p.M903ICESC1
p.V950LESCA1
p.A292VUCEC1
p.E767KHNSC1
p.T245MCOAD1
p.W557GTGCT1
p.H697DESCA1
p.L706FSKCM1
p.K826NLUSC1
p.Y494CSTAD1
p.V560GTGCT1
p.P754SLIHC1
p.V50MSTAD1
p.K642ETGCT1
p.R888QCOAD1
p.A299VBLCA1
p.W557RTGCT1
p.A784TCOAD1
p.G812VHNSC1
p.Y362CSTAD1
p.R888QUCEC1
p.F433LLGG1
p.I612TLUAD1
p.N330DUCEC1
p.L637HOV1
p.C537SLUAD1
p.E720DBLCA1
p.P141SLIHC1
p.N268YLUAD1
p.C809*LIHC1
p.E257DREAD1
p.D901GCOAD1
p.C809XLIHC1
p.P627LUCEC1
p.E386KSTAD1
p.V825DTGCT1
p.P627LUCS1
p.R888QPRAD1
p.V109EESCA1
p.E490DLUSC1
p.R956WUCEC1
p.S451CSKCM1
p.D9NUCEC1
p.I39MBRCA1
p.R271PLIHC1
p.G961SPRAD1
p.G866_spliceLUSC1
p.Q919*PRAD1
p.K176NLUSC1
p.T666ISKCM1
p.L637PESCA1
p.D479HBLCA1
p.S821YUCEC1
p.F355ITHCA1
p.E128KUCEC1
p.N822ISKCM1
p.R956QOV1
p.P573LLUAD1
p.V603DLUSC1
p.C183SCOAD1
p.V732ACOAD1
p.F772VUCEC1
p.E257QLUAD1
p.D737NUCEC1
p.N486IHNSC1
p.A895TSTAD1
p.K558ELGG1
p.N260TLUAD1
p.G432EBRCA1
p.E695*UCEC1
p.W440*BLCA1
p.S590NLGG1
p.R5CSTAD1
p.T963ITHYM1
p.P363SSKCM1
p.R177LLUAD1
p.T132MGBM1
p.D72EGBM1
p.Y578CTGCT1
p.P871HPAAD1
p.D765GLIHC1
p.R888LHNSC1
p.K209ISTAD1
p.D361NUCEC1
p.V64ASTAD1
p.W557RSKCM1
p.S712FCESC1
p.R956QCOAD1
p.R804QSARC1
p.E583XTHYM1
p.G102SUCEC1
p.A401TPCPG1
p.L631FHNSC1
p.R19CBLCA1
p.S197*LIHC1
p.G565*UCEC1
p.E227KSARC1
p.D439HSTAD1
p.D9EMESO1
p.D816YLAML1
p.V560ASTAD1
p.L679FUCEC1
p.V50MGBM1
p.R49CSKCM1
p.S197LLAML1
p.P36TBRCA1
p.P41SLUAD1
p.E930DSTAD1
p.R634QCESC1
p.A219VBRCA1
p.S590RESCA1
p.Y721HUCEC1


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TissGeneCNV for KIT

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 KIT

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
Chimerdb3.0ChiTaRsNADN993363KIT-MAATS1chr4:55564731chr3:119467986
Chimerdb3.0TopHat-FusionBRCATCGA-E2-A1B0-01AKIT-EXOC1Out-of-Framechr4:55561819chr4:56744231
Chimerdb3.0TopHat-FusionBRCATCGA-E2-A1B0-01AKIT-EXOC1In-Framechr4:55565123chr4:56745120
TCGAfusionPortalPRADAPRADTCGA-EJ-7327-01ARCOR1-KITIn-frameChr14:103148315Chr4:55561678
TCGAfusionPortalPRADASKCMTCGA-EB-A44O-01AKIT-UGT2B7NAChr4:55524248Chr4:69955190


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TissGeneNet for KIT

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)
KIT, SH3KBP1, LCK, TFAP2A, UBC, TCF3, FYN, PIK3R1, GRB7, MYB, CD81, PIK3R2, SIRT2, SOCS6, INPP5D, CD9, CD63, DOK1, PTPRJ, SOCS5, SPRED2 (tumor)KIT, SH3KBP1, LCK, PIK3CG, ETS2, PRKCA, CBL, LYN, YES1, FYN, PIK3R1, CSF2RB, GRAP2, GRB10, INPP5D, STAT5A, PRKCB, MPDZ, PLCE1, PDGFRA, SOCS5 (normal)
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COAD (tumor)COAD (normal)
KIT, PTPN6, SH3KBP1, SRC, PRKCA, STAT5B, PTPN11, FYN, PIK3R1, RFC1, GRB7, SIRT1, CD81, GRB10, CISH, SOCS6, PRKCB, KITLG, MPDZ, PDGFRA, SOCS5 (tumor)KIT, PIK3CG, HCK, STAT5B, FYN, PIK3R1, GRB7, CSF2RB, GRAP2, ABL1, BTK, STAP1, PRKCB, KITLG, MPDZ, PLCE1, CSF2RA, MATK, PDGFRA, SOCS5, SH2B3 (normal)
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HNSC (tumor)HNSC (normal)
KIT, SH3KBP1, PIK3CG, CBLB, PIK3R1, RFC1, ABL1, CD81, INPP5D, CD63, STAT5A, DOK1, KITLG, MPDZ, PLCE1, EPOR, PTPRJ, PTPRU, SOCS5, SPRED2, SH2B3 (tumor)KIT, PIK3CG, SP1, FYN, PIK3R1, CSF2RB, GRAP2, SIRT1, BTK, INPP5D, STAP1, PRKCB, PTPRO, KITLG, MPDZ, PLCE1, CSF2RA, PDGFRA, PTPRJ, SOCS5, SH2B3 (normal)
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KICH (tumor)KICH (normal)
KIT, SH3KBP1, HCK, JAK2, STAT5B, CRKL, YES1, CBLB, FYN, CSF2RB, GRAP2, ABL1, BTK, STAP1, CD9, STAT5A, PTPRO, MPDZ, EPOR, PDGFRA, SPRED2 (tumor)KIT, SH3KBP1, PLCG1, GRB2, RFC1, GRB7, GRB10, CRK, PIK3R2, CISH, STAP1, CD9, STAT5A, DOK1, KITLG, PLCE1, SOCS4, SH2B2, PTPRJ, SOCS5, SH2B3 (normal)
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KIRC (tumor)KIRC (normal)
KIT, SH3KBP1, TFAP2A, HCK, FYN, RFC1, GRB7, GRAP2, CLTC, GRB10, SIRT2, BTK, STAP1, CD9, STAT5A, DOK1, KITLG, MATK, GRAP, SH2B2, PTPRJ (tumor)KIT, PTPN6, LCK, UBC, GRB2, SRC, PTPN11, YES1, BCR, GRB10, PIK3R2, STAP1, CD9, DOK1, KITLG, MPDZ, MATK, SOCS4, SH2B2, PTPRJ, SPRED2 (normal)
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KIRP (tumor)KIRP (normal)
KIT, SH3KBP1, TFAP2A, SP1, PLCG1, GRB2, HCK, YES1, FYN, CSF2RB, ABL1, CRK, CISH, SOCS6, STAP1, CD9, PTPRO, PLCE1, EPOR, PTPRJ, SOCS5 (tumor)KIT, PIK3CG, ETS2, TCF3, JAK2, CBL, CRKL, LYN, CBLB, CSF2RB, GRAP2, MYB, SIRT2, BTK, INPP5D, STAP1, CD9, KITLG, SOCS4, SOCS5, SH2B3 (normal)
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LIHC (tumor)LIHC (normal)
KIT, PIK3CG, HCK, JAK2, CBL, LYN, CBLB, CSF2RB, GRAP2, CLTC, PIK3R2, BTK, INPP5D, CD9, PRKCB, PTPRO, DOK1, KITLG, PLCE1, CSF2RA, PDGFRA (tumor)KIT, PIK3CG, SP1, PLCG1, HCK, JAK2, CBL, CBLB, CSF2RB, GRAP2, ABL1, SIRT1, BTK, RASA1, INPP5D, PRKCB, KITLG, PDGFRA, SOCS5, SPRED2, SH2B3 (normal)
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LUAD (tumor)LUAD (normal)
KIT, PIK3CG, PLCG1, PRKCA, JAK2, STAT5B, CRKL, FYN, PIK3R1, GRAP2, SIRT1, GRB10, RASA1, CD9, CD63, PRKCB, KITLG, PLCE1, GRAP, PDGFRA, PTPRU (tumor)KIT, SH3KBP1, TFAP2A, UBC, GRB2, ETS2, PRKCA, STAT1, ABL1, SIRT1, CD81, PIK3R2, CISH, SOCS6, STAT5A, KITLG, MPDZ, CSF2RA, GRAP, PDGFRA, SOCS5 (normal)
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LUSC (tumor)LUSC (normal)
KIT, SP1, PRKCA, HCK, STAT5B, PTPN11, CBL, LYN, YES1, FYN, PIK3R1, RFC1, GRB10, CISH, SOCS1, MPDZ, PLCE1, CSF2RA, GRAP, PDGFRA, SH2B3 (tumor)KIT, LCK, PIK3CG, FYN, PIK3R1, CSF2RB, GRAP2, SIRT1, MYB, CISH, BTK, INPP5D, STAP1, STAT5A, PRKCB, MPDZ, PLCE1, CSF2RA, GRAP, PDGFRA, SH2B3 (normal)
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PRAD (tumor)PRAD (normal)
KIT, PRKCA, TCF3, JAK2, STAT5B, PTPN11, LYN, FYN, RFC1, CD81, CRK, RASA1, TEC, STAP1, STAT5A, PRKCB, DOK1, KITLG, EPOR, GRAP, PDGFRA (tumor)KIT, PIK3CG, ETS2, PRKCA, HCK, JAK2, STAT5B, FYN, PIK3R1, CSF2RB, GRAP2, BTK, INPP5D, STAT5A, PRKCB, KITLG, MPDZ, PLCE1, CSF2RA, PDGFRA, SH2B3 (normal)
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STAD (tumor)STAD (normal)
KIT, TFAP2A, PRKCA, STAT5B, FYN, GRB7, ABL1, SIRT1, MYB, CD81, PIK3R2, TEC, STAT5A, PRKCB, KITLG, MPDZ, PLCE1, EPOR, SOCS4, PDGFRA, SH2B3 (tumor)KIT, PIK3CG, PRKCA, TCF3, STAT5B, FYN, PIK3R1, CSF2RB, GRAP2, ABL1, BTK, STAP1, STAT5A, PRKCB, KITLG, MPDZ, PLCE1, CSF2RA, PDGFRA, SOCS5, SH2B3 (normal)
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THCA (tumor)THCA (normal)
KIT, PTPN6, SP1, GRB2, PTPN11, CRKL, YES1, RFC1, SIRT1, RASA1, SOCS6, CD63, DOK1, SOCS1, MPDZ, MATK, GRAP, SH2B2, PTPRJ, SOCS5, SPRED2 (tumor)KIT, SRC, PRKCA, HCK, LYN, CBLB, STAT1, FYN, GRB7, GRB10, PIK3R2, SOCS6, TEC, CD63, STAT5A, PTPRO, KITLG, CSF2RA, SOCS4, PTPRJ, PTPRU (normal)
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TissGeneProg for KIT

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 KIT
TissGeneDrug for KIT

check button Drug information targeting TissGene
(DrugBank Version 5.0.6, 2017-04-01)
DrugBank IDDrug nameDrug activityDrug typeDrug status
DB00619ImatinibAntagonist|MultitargetSmall moleculeApproved
DB06589PazopanibInhibitorSmall moleculeApproved
DB08896RegorafenibInhibitorSmall moleculeApproved
DB08901PonatinibInhibitorSmall moleculeApproved
DB09078LenvatinibInhibitorSmall moleculeApproved
DB00398SorafenibAntagonistSmall moleculeApproved|Investigational
DB01254DasatinibAntagonistSmall moleculeApproved|Investigational
DB01268SunitinibInhibitorSmall moleculeApproved|Investigational
DB04868NilotinibAntagonistSmall moleculeApproved|Investigational


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TissGeneDisease for KIT

check button Disease information associated with TissGene
(DisGeNet, 2016-06-01)
Disease IDDisease name# pubmedsSource
umls:C0238198Gastrointestinal Stromal Tumors656BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT
umls:C0025202melanoma122BeFree,GAD,LHGDN
umls:C0023467Leukemia, Myelocytic, Acute121BeFree,CLINVAR,CTD_human,GAD,LHGDN
umls:C0221013Mastocytosis, Systemic86BeFree,CLINVAR,CTD_human,GAD,LHGDN
umls:C0024899Mastocytosis67BeFree,GAD,LHGDN,MGD
umls:C0042111Urticaria Pigmentosa60BeFree,LHGDN
umls:C0023418leukemia42BeFree,GAD,LHGDN
umls:C0027627Neoplasm Metastasis42BeFree,LHGDN
umls:C0080024Piebaldism27BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
umls:C0596263Carcinogenesis25BeFree
umls:C0149925Small cell carcinoma of lung24BeFree,CTD_human,LHGDN
umls:C1261473Sarcoma24BeFree,LHGDN
umls:C0036631Seminoma21BeFree,LHGDN
umls:C0023473Myeloid Leukemia, Chronic17BeFree,LHGDN
umls:C0023461Leukemia, Mast-Cell14BeFree,CLINVAR,LHGDN
umls:C0178874Tumor Progression14BeFree
umls:C0027831Neurofibromatosis 113BeFree,LHGDN
umls:C0278883Metastatic melanoma13BeFree
umls:C0280100Solid tumour13BeFree
umls:C3839741Core binding factor acute myeloid leukemia13BeFree
umls:C0205969Thymic Carcinoma12BeFree
umls:C0334664Mast Cell Neoplasm12BeFree
umls:C0879615Stromal Neoplasm12BeFree
umls:C0023269leiomyosarcoma11BeFree
umls:C0023470Myeloid Leukemia11BeFree,GAD
umls:C0205851Germ cell tumor11BeFree
umls:C0262584Carcinoma, Small Cell11BeFree,LHGDN
umls:C1322286Thymoma, type C11BeFree
umls:C0007134Renal Cell Carcinoma10BeFree,LHGDN
umls:C0024299Lymphoma10BeFree,LHGDN
umls:C0006142Malignant neoplasm of breast9BeFree
umls:C0008626Congenital chromosomal disease9BeFree
umls:C0010606Adenoid Cystic Carcinoma9BeFree,LHGDN
umls:C0017636Glioblastoma9BeFree
umls:C0023449Acute lymphocytic leukemia9BeFree
umls:C0026764Multiple Myeloma9BeFree,LHGDN
umls:C0242596Neoplasm, Residual9BeFree,GAD
umls:C0678222Breast Carcinoma9BeFree
umls:C0001418Adenocarcinoma8BeFree,LHGDN
umls:C0007129Merkel cell carcinoma8BeFree,LHGDN
umls:C0010701Phyllodes Tumor8BeFree,LHGDN
umls:C0023487Acute Promyelocytic Leukemia8BeFree
umls:C0598766Leukemogenesis8BeFree
umls:C0007131Non-Small Cell Lung Carcinoma7BeFree,CTD_human
umls:C0023267Fibroid Tumor7BeFree
umls:C0027809Neurilemmoma7BeFree
umls:C0037286Skin Neoplasms7BeFree,GAD
umls:C0042133Uterine Fibroids7BeFree
umls:C0085669Acute leukemia7BeFree
umls:C0220621pediatric acute myeloblastic leukemia7BeFree
umls:C1334699Mesenchymal Cell Neoplasm7BeFree
umls:C1858592Carney Triad7BeFree
umls:C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma7BeFree
umls:C0009402Colorectal Carcinoma6BeFree
umls:C0017638Glioma6BeFree,LHGDN
umls:C0027022Myeloproliferative disease6BeFree
umls:C0027819Neuroblastoma6BeFree
umls:C0029925Ovarian Carcinoma6BeFree
umls:C0175754Agenesis of corpus callosum6BeFree
umls:C0206651Sarcoma, Clear Cell6BeFree,LHGDN
umls:C0272203Indolent Systemic Mastocytosis6BeFree
umls:C0686619Secondary malignant neoplasm of lymph node6BeFree
umls:C1333768Gastric Gastrointestinal Stromal Tumor6BeFree
umls:C0001815Primary Myelofibrosis5BeFree,LHGDN
umls:C0007137Squamous cell carcinoma5BeFree,LHGDN
umls:C0018923Hemangiosarcoma5BeFree
umls:C0022665Kidney Neoplasm5BeFree
umls:C0029463Osteosarcoma5BeFree,LHGDN
umls:C0039101synovial sarcoma5BeFree,LHGDN
umls:C0040100Thymoma5BeFree,LHGDN
umls:C0151779Cutaneous Melanoma5BeFree
umls:C0206658Smooth Muscle Tumor5BeFree
umls:C0206754Neuroendocrine Tumors5BeFree
umls:C0242379Malignant neoplasm of lung5BeFree
umls:C0346421Chronic eosinophilic leukemia5BeFree
umls:C0494165Secondary malignant neoplasm of liver5BeFree
umls:C0699791Stomach Carcinoma5BeFree
umls:C0700095Central neuroblastoma5BeFree
umls:C0009375Colonic Neoplasms4BeFree,LHGDN
umls:C0013377Dysgerminoma4BeFree
umls:C0014457Eosinophilia4BeFree
umls:C0021364Male infertility4BeFree,GAD,RGD
umls:C0023440Acute Erythroblastic Leukemia4BeFree
umls:C0024623Malignant neoplasm of stomach4BeFree,GAD
umls:C0024897Mastocytoma4BeFree
umls:C0027643Neoplasm Recurrence, Local4CTD_human,GAD
umls:C0032463Polycythemia Vera4BeFree,LHGDN
umls:C0038356Stomach Neoplasms4BeFree,GAD
umls:C0041107Trisomy4BeFree
umls:C0162835Hypopigmentation disorder4BeFree
umls:C0206180Ki-1+ Anaplastic Large Cell Lymphoma4BeFree
umls:C0206633Angiomyolipoma4BeFree
umls:C0206660Germinoma4BeFree,LHGDN
umls:C0206695Carcinoma, Neuroendocrine4BeFree,LHGDN
umls:C0220633Uveal melanoma4BeFree
umls:C0376545Hematologic Neoplasms4BeFree,GAD
umls:C0521158Recurrent tumor4BeFree
umls:C0854912Pineal germinoma4BeFree
umls:C0949541Hurthle Cell Tumor4BeFree
umls:C1112486Aggressive Systemic Mastocytosis4BeFree
umls:C1140680Malignant neoplasm of ovary4BeFree
umls:C1266042Chromophobe Renal Cell Carcinoma4BeFree
umls:C1275345Familial mastocytosis4BeFree
umls:C1306759Eosinophilic disorder4BeFree
umls:C1527249Colorectal Cancer4BeFree
umls:C1636667Disorder characterized by eosinophilia4BeFree
umls:C2242987Benign Mastocytoma4BeFree
umls:C0001430Adenoma3BeFree
umls:C0005699Blast Phase3BeFree
umls:C0007102Malignant tumor of colon3BeFree
umls:C0013080Down Syndrome3BeFree,LHGDN
umls:C0027658Neoplasms, Germ Cell and Embryonal3LHGDN
umls:C0027708Nephroblastoma3BeFree
umls:C0027830neurofibroma3BeFree
umls:C0028960Oligospermia3BeFree,GAD
umls:C0042900Vitiligo3BeFree,GAD
umls:C0079218Fibromatosis, Aggressive3BeFree
umls:C0079772T-Cell Lymphoma3BeFree,LHGDN
umls:C0206630Endometrial Stromal Sarcoma3BeFree
umls:C0206727Nerve Sheath Tumors3BeFree,LHGDN
umls:C0312414Menstrual spotting3BeFree
umls:C0334121Inflammatory Myofibroblastic Tumor3BeFree
umls:C0346185Dysgerminoma of ovary3BeFree
umls:C0684249Carcinoma of lung3BeFree
umls:C0699790Colon Carcinoma3BeFree
umls:C1136033Cutaneous Mastocytosis3BeFree
umls:C1265996Large cell neuroendocrine carcinoma3BeFree
umls:C1292778Chronic myeloproliferative disorder3BeFree
umls:C1333500Extragastrointestinal Gastrointestinal Stromal Tumor3BeFree
umls:C1335996Gastrointestinal stromal tumor of small intestine3BeFree
umls:C1336052Spindle Cell Neoplasm3BeFree
umls:C1840451MULTICYSTIC RENAL DYSPLASIA, BILATERAL3BeFree
umls:C0002793Anaplasia2BeFree
umls:C0002871Anemia2BeFree
umls:C0002874Aplastic Anemia2BeFree
umls:C0002893Refractory anemias2BeFree
umls:C0004509Azoospermia2BeFree,GAD
umls:C0006118Brain Neoplasms2BeFree
umls:C0007095Carcinoid Tumor2BeFree
umls:C0007140Carcinosarcoma2BeFree
umls:C0008487Chordoma2BeFree
umls:C0011168Deglutition Disorders2BeFree
umls:C0014474Ependymoma2BeFree
umls:C0017185Gastrointestinal Neoplasms2BeFree
umls:C0023903Liver neoplasms2BeFree,GAD
umls:C0024115Lung diseases2BeFree,CTD_human
umls:C0024121Lung Neoplasms2BeFree,GAD
umls:C0026010Microphthalmos2BeFree
umls:C0026499Monosomy2BeFree
umls:C0026987Myelofibrosis2BeFree
umls:C0026998Acute Myeloid Leukemia, M12BeFree
umls:C0030297Pancreatic Neoplasm2GAD,LHGDN
umls:C0031511Pheochromocytoma2BeFree
umls:C0035335Retinoblastoma2BeFree
umls:C0035412Rhabdomyosarcoma2BeFree
umls:C0040715Chromosomal translocation2GAD
umls:C0041408Turner Syndrome2BeFree
umls:C0153594Malignant neoplasm of testis2BeFree,CLINVAR
umls:C0162678Neurofibromatoses2BeFree
umls:C0162834Hyperpigmentation2GAD
umls:C0205697Carcinoma, Spindle-Cell2BeFree
umls:C0206141Idiopathic Hypereosinophilic Syndrome2BeFree
umls:C0206663Neuroectodermal Tumor, Primitive2BeFree
umls:C0238031Breast Phyllodes Tumor2BeFree
umls:C0238114Leiomyoma of esophagus2BeFree
umls:C0238461Anaplastic thyroid carcinoma2BeFree
umls:C0238463Papillary thyroid carcinoma2BeFree
umls:C0334590Anaplastic Oligodendroglioma2BeFree
umls:C0340970Congenital neutropenia2BeFree
umls:C0346255Oncocytoma, renal2BeFree
umls:C0376358Malignant neoplasm of prostate2BeFree
umls:C0376544Hematopoietic Neoplasms2BeFree
umls:C0392784Dermatofibrosarcoma Protuberans2BeFree
umls:C0476089Endometrial Carcinoma2BeFree
umls:C0553580Ewings sarcoma2BeFree
umls:C0585442Osteosarcoma of bone2BeFree
umls:C0600066Malignant Cystosarcoma Phyllodes2BeFree
umls:C0600139Prostate carcinoma2BeFree
umls:C0677936Refractory cancer2BeFree
umls:C0679408Lesion of stomach2BeFree
umls:C0684337Ewings sarcoma-primitive neuroectodermal tumor (PNET)2BeFree,CTD_human
umls:C0854917Rhabdoid Tumor of the Kidney2BeFree
umls:C0855197Testicular malignant germ cell tumor2BeFree
umls:C0919267ovarian neoplasm2BeFree,LHGDN
umls:C1336082Thymic Squamous Cell Carcinoma2BeFree
umls:C1336708Testicular Germ Cell Tumor2BeFree,CTD_human
umls:C1337011Well Differentiated Pancreatic Endocrine Tumor2BeFree
umls:C1368683Epithelioma2BeFree
umls:C1378703Renal carcinoma2BeFree
umls:C1402294Primary Lesion2BeFree
umls:C1458155Mammary Neoplasms2CTD_human,LHGDN
umls:C1520166Xenograft Model2BeFree
umls:C1709246Non-Neoplastic Disorder2BeFree
umls:C1847835VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)2BeFree
umls:C1853118Severe congenital neutropenia2BeFree
umls:C2004576Vaginal Melanoma2BeFree
umls:C2931852Clear-cell metastatic renal cell carcinoma2BeFree
umls:C3266898Waardenburg Syndrome2BeFree
umls:C3539878Triple Negative Breast Neoplasms2BeFree
umls:C0000768Congenital Abnormality1BeFree
umls:C0001206Acromegaly1BeFree
umls:C0001824Agranulocytosis1BeFree
umls:C0002894Refractory anaemia with excess blasts1BeFree
umls:C0002938Aneuploidy1GAD
umls:C0004096Asthma1BeFree
umls:C0004114Astrocytoma1BeFree
umls:C0005586Bipolar Disorder1GAD
umls:C0007103Malignant neoplasm of endometrium1BeFree
umls:C0007113Rectal Carcinoma1BeFree
umls:C0007124Noninfiltrating Intraductal Carcinoma1LHGDN
umls:C0007133Carcinoma, Papillary1BeFree
umls:C0008354Cholera1BeFree
umls:C0008479Chondrosarcoma1BeFree
umls:C0014072Experimental Autoimmune Encephalomyelitis1BeFree
umls:C0014866Esophageal Stenosis1BeFree
umls:C0016048Fibromatosis1BeFree
umls:C0017525Giant Cell Tumors1BeFree
umls:C0017658Glomerulonephritis1LHGDN
umls:C0018051Gonadal Dysgenesis1BeFree
umls:C0018418Gynecomastia1BeFree
umls:C0019163Hepatitis B1BeFree
umls:C0019196Hepatitis C1BeFree
umls:C0019209Hepatomegaly1BeFree
umls:C0020615Hypoglycemia1BeFree
umls:C0021841Intestinal Neoplasms1BeFree
umls:C0023480Leukemia, Myelomonocytic, Chronic1BeFree
umls:C0023798Lipoma1BeFree
umls:C0024117Chronic Obstructive Airway Disease1BeFree
umls:C0024301Lymphoma, Follicular1BeFree
umls:C0024314Lymphoproliferative Disorders1BeFree
umls:C0024668Mammary Neoplasms, Experimental1RGD
umls:C0025063Mediastinal Neoplasms1BeFree
umls:C0025149Medulloblastoma1BeFree
umls:C0025500Mesothelioma1LHGDN
umls:C0026470Monoclonal Gammopathy of Undetermined Significance1BeFree
umls:C0026985Myelodysplasia1BeFree
umls:C0027149Myxoma1LHGDN
umls:C0027645Neoplasm Seeding1GAD
umls:C0027960Nevus1BeFree
umls:C0027962Melanocytic nevus1BeFree
umls:C0028259Nodule1BeFree
umls:C0028754Obesity1BeFree
umls:C0029456Osteoporosis1BeFree,LHGDN
umls:C0030354Papilloma1BeFree
umls:C0032000Pituitary Adenoma1BeFree
umls:C0032131Plasmacytoma1BeFree
umls:C0032580Adenomatous Polyposis Coli1BeFree
umls:C0032584polyps1BeFree
umls:C0033027Preleukemia1BeFree
umls:C0036221Mast-Cell Sarcoma1BeFree
umls:C0037579Soft Tissue Neoplasms1BeFree
umls:C0037999Splenic Neoplasms1GAD
umls:C0039538Teratoma1BeFree
umls:C0039590Testicular Neoplasms1BeFree
umls:C0039984Thoracic Outlet Syndrome1BeFree
umls:C0040128Thyroid Diseases1LHGDN
umls:C0040136Thyroid Neoplasm1LHGDN
umls:C0040137Thyroid Nodule1BeFree
umls:C0043346Xeroderma Pigmentosum1BeFree
umls:C0079731B-Cell Lymphomas1LHGDN
umls:C0079773Lymphoma, T-Cell, Cutaneous1BeFree
umls:C0080032Pleural Effusion, Malignant1BeFree
umls:C0085207Gestational Diabetes1BeFree
umls:C0085215Ovarian Failure, Premature1BeFree
umls:C0151744Myocardial Ischemia1LHGDN
umls:C0152013Adenocarcinoma of lung (disorder)1BeFree
umls:C0153687Secondary malignant neoplasm of skin1BeFree
umls:C0153690Secondary malignant neoplasm of bone1BeFree
umls:C0156369Uterine Polyp1BeFree
umls:C0178650Gammopathy1BeFree
umls:C0206062Lung Diseases, Interstitial1BeFree
umls:C0206182Lymphomatoid Papulosis1BeFree
umls:C0206623Adenosquamous carcinoma1BeFree
umls:C0206628Mesoblastic Nephroma1BeFree
umls:C0206629Pulmonary Blastoma1BeFree
umls:C0206634Liposarcoma, Myxoid1BeFree
umls:C0206635Myelolipoma1BeFree
umls:C0206646Fibromatosis, Abdominal1BeFree
umls:C0206650Fibroadenoma1BeFree
umls:C0206659Embryonal Carcinoma1BeFree
umls:C0206687Carcinoma, Endometrioid1BeFree
umls:C0206694Mucoepidermoid Carcinoma1BeFree
umls:C0206726gliosarcoma1BeFree,LHGDN
umls:C0206728Plexiform Neurofibroma1BeFree
umls:C0206769Nevi and Melanomas1BeFree
umls:C0220603childhood brain tumor1BeFree
umls:C0241961Angiomyolipoma of kidney1BeFree
umls:C0242363Islet Cell Tumor1BeFree
umls:C0263662Disseminated eosinophilic collagen disease1BeFree
umls:C0265490Trisomy 221BeFree
umls:C0267771Retroperitoneal mass1BeFree
umls:C0278727Small cell lung cancer recurrent1BeFree
umls:C0279592T-cell adult acute lymphoblastic leukemia1BeFree
umls:C0279702Conventional (Clear Cell) Renal Cell Carcinoma1BeFree
umls:C0279709testicular embryonal carcinoma and teratoma1BeFree
umls:C0279751Adenoid cystic carcinoma of salivary gland1BeFree
umls:C0279980Extraosseous Ewings sarcoma-primitive neuroepithelial tumor1BeFree
umls:C0280630Uterine Carcinosarcoma1BeFree
umls:C0334432Nonpigmented nevus1BeFree
umls:C0334520Teratoma, Malignant1BeFree
umls:C0334579Anaplastic astrocytoma1BeFree
umls:C0334583Pilocytic Astrocytoma1BeFree
umls:C0343115Skin Mastocytoma1BeFree,ORPHANET
umls:C0346037Acral Lentiginous Malignant Melanoma1BeFree
umls:C0346373Malignant melanoma of iris1BeFree
umls:C0346379Malignant melanoma of ciliary body1BeFree
umls:C0349639Juvenile Myelomonocytic Leukemia1BeFree
umls:C0375071Malignant neoplasm of vulva1BeFree
umls:C0432412Chromosome 8, trisomy1BeFree
umls:C0555198Malignant Glioma1BeFree
umls:C0558356Malignant melanoma of eye1BeFree
umls:C0677055CARCINOMA OF VULVA1BeFree
umls:C0677886Epithelial ovarian cancer1BeFree
umls:C0685938Malignant neoplasm of gastrointestinal tract1GAD
umls:C0729262Slow transit constipation1GAD
umls:C0740345Germ Cell Cancer1BeFree
umls:C0740457Malignant neoplasm of kidney1BeFree
umls:C0745091Hypereosinophilia1BeFree
umls:C0750974Brain Tumor, Primary1BeFree
umls:C0751606Adult Acute Lymphocytic Leukemia1BeFree
umls:C0751690Malignant Peripheral Nerve Sheath Tumor1BeFree
umls:C0854467Myelosuppression1BeFree
umls:C0855073Undifferentiated (Embryonal) Sarcoma1BeFree
umls:C0948750Salivary gland carcinoma1BeFree
umls:C1136085Monoclonal Gammapathies1BeFree
umls:C1264047Disorder of intra-abdominal lymph nodes1BeFree
umls:C1266119Solitary fibrous tumor1BeFree
umls:C1266157Intratubular malignant germ cells1BeFree
umls:C1266158Nonseminomatous germ cell tumor1BeFree
umls:C1292762Histiocytic neoplasm (morphology)1BeFree
umls:C1292769Precursor B-cell lymphoblastic leukemia1BeFree
umls:C1332986Childhood Osteosarcoma1BeFree
umls:C1333280Desmoplastic melanoma1BeFree
umls:C1333993Hereditary Paraganglioma1BeFree
umls:C1334363Large Cell Lung Neuroendocrine Carcinoma1BeFree
umls:C1334781Mixed Cell Type Gastrointestinal Stromal Tumor1BeFree
umls:C1335473Conventional Chondrosarcoma1BeFree
umls:C1335729Refractory Neoplasm1BeFree
umls:C1336056Spindle Cell Type Gastrointestinal Stromal Tumor1BeFree
umls:C1378050Oncocytic Neoplasm1BeFree
umls:C1456781Benign melanocytic nevus1BeFree
umls:C1510502Oxyphilic Adenoma1BeFree
umls:C1519214Secondary Glioblastoma1BeFree
umls:C1519346Skin Carcinogenesis1BeFree
umls:C1531608Smoldering myeloma1BeFree
umls:C1540912Hypereosinophilic syndrome1BeFree
umls:C1541333adult acute myeloid leukemia with inv(16)(p13;q22)1BeFree
umls:C1704272Benign Prostatic Hyperplasia1BeFree
umls:C1704273Endometrial Polyp1BeFree
umls:C1704327Bone Sarcoma1BeFree
umls:C1704376Uterine Corpus Carcinosarcoma1BeFree
umls:C1710096Sinonasal undifferentiated carcinoma1BeFree
umls:C1847319PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA1BeFree
umls:C1851585MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA1BeFree
umls:C1883018Severe Aplastic Anemia1BeFree
umls:C1883486Uterine Corpus Cancer1BeFree
umls:C1959632Plasma Cell Neoplasm1BeFree
umls:C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1BeFree
umls:C2239176Liver carcinoma1BeFree
umls:C2698045Merkel Cell Polyomavirus Infection1BeFree
umls:C2827362Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement1BeFree
umls:C3179349Gastrointestinal Stromal Sarcoma1BeFree
umls:C3263719Primary acquired melanosis1BeFree
umls:C3463824MYELODYSPLASTIC SYNDROME1LHGDN
umls:C3472616Mixed phenotype acute leukemia B/myeloid1BeFree
umls:C3539909Allergic disposition1BeFree
umls:C3665593Melanocytic nevus of skin1BeFree
umls:C3714644Thymus Neoplasms1BeFree
umls:C0263402Telangiectasia macularis eruptiva perstans0ORPHANET
umls:C1301365Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease0ORPHANET