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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 TP63
check button Gene summary
Basic gene informationGene symbolTP63
Gene nametumor protein p63
SynonymsAIS|B(p51A)|B(p51B)|EEC3|KET|LMS|NBP|OFC8|RHS|SHFM4|TP53CP|TP53L|TP73L|p40|p51|p53CP|p63|p73H|p73L
CytomapUCSC genome browser: 3q28
Type of geneprotein-coding
RefGenesNM_001114978.1,
NM_001114979.1,NM_001114980.1,NM_001114981.1,NM_001114982.1,
NM_003722.4,
DescriptionCUSPamplified in squamous cell carcinomachronic ulcerative stomatitis proteinkeratinocyte transcription factor KETtransformation-related protein 63tumor protein 63tumor protein p53-competing proteintumor protein p63 deltaN isoform delta
Modification date20141222
dbXrefs MIM : 603273
HGNC : HGNC
Ensembl : ENSG00000073282
HPRD : 04469
Vega : OTTHUMG00000156313
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_TP63
BioGPS: 8626
PathwayNCI Pathway Interaction Database: TP63
KEGG: TP63
REACTOME: TP63
Pathway Commons: TP63
ContextiHOP: TP63
ligand binding site mutation search in PubMed: TP63
UCL Cancer Institute: TP63
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)BladderSkin
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA)BLCASKCM
Reference showing the relevant tissue of TP63
Description by TissGene annotationsCancer gene
Have significant anti-correlated miRNA
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:0006974cellular response to DNA damage stimulus19451233
GO:0045747positive regulation of Notch signaling pathway11641404
GO:0045892negative regulation of transcription, DNA-templated12446784
GO:0045893positive regulation of transcription, DNA-templated12446784
GO:0045944positive regulation of transcription from RNA polymerase II promoter20123734
GO:2000271positive regulation of fibroblast apoptotic process9774969
GO:0006974cellular response to DNA damage stimulus19451233
GO:0045747positive regulation of Notch signaling pathway11641404
GO:0045892negative regulation of transcription, DNA-templated12446784
GO:0045893positive regulation of transcription, DNA-templated12446784
GO:0045944positive regulation of transcription from RNA polymerase II promoter20123734
GO:2000271positive regulation of fibroblast apoptotic process9774969


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TissGeneExp for TP63

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
THCA-1.765700818-3.1048499711.3391491533.32E-059.93E-05
PRAD1.7460986933.705289077-1.9591903856.96E-086.78E-07
BRCA0.1886831393.253504192-3.0648210535.92E-204.20E-19
KIRC-3.731729726-2.633904726-1.0978251.31E-063.32E-06
HNSC6.6742453395.4136546411.2605906982.75E-082.97E-07
KIRP-4.76084674-2.79482799-1.966018753.33E-082.28E-07
LUSC5.1096000130.4593980524.6502019612.97E-141.64E-13
COAD-4.777987846-3.597164769-1.1808230772.46E-050.000102469


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TissGene-miRNA for TP63

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
LUADhsa-miR-454-3pMIMAT00038850.038-0.2760
LUADhsa-miR-301a-3pMIMAT00006880.0076-0.3460
LUADhsa-miR-130b-3pMIMAT00006910.0011-0.4160


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TissGeneMut for TP63
TissGeneSNV for TP63

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.R379CSKCM9
p.E609KSKCM7
p.R285CSKCM5
p.E515KSKCM4
p.D60NSKCM3
p.R393QSKCM3
p.R594*SKCM3
p.R643QSKCM3
p.S458LSKCM3
p.R549QSKCM2
p.D398NSKCM2
p.S365LSKCM2
p.R594*UCEC2
p.P163LSKCM2
p.M216ISKCM2
p.S271LSKCM2
p.S535FSKCM2
p.R500XSKCM2
p.A139TSTAD2
p.R266QSKCM1
p.P152HLUAD1
p.P527LSTAD1
p.M122ISKCM1
p.F458LREAD1
p.E583KSKCM1
p.D76NSKCM1
p.D582NSKCM1
p.P456LSKCM1
p.P464LBLCA1
p.S478CTGCT1
p.P219LCESC1
p.R266*UCEC1
p.N389SSKCM1
p.D583_spliceUCEC1
p.R338HUCEC1
p.Q575EBLCA1
p.R243XSKCM1
p.R226HGBM1
p.Q20HPAAD1
p.H615YSKCM1
p.M387ISKCM1
p.I58TBLCA1
p.E5KSKCM1
p.Q204KLUAD1
p.E409DLUSC1
p.R594XSTAD1
p.Q575*CESC1
p.Q575HBLCA1
p.S365*TGCT1
p.M469IBLCA1
p.M293ISKCM1
p.L553ISTAD1
p.H521YSKCM1
p.I213MSTAD1
p.G314APRAD1
p.M472TSTAD1
p.R249LLGG1
p.R668SPAAD1
p.S142CLUAD1
p.S160CLUAD1
p.S189LBLCA1
p.S365LKIRC1
p.E632*CESC1
p.K324RCOAD1
p.S189LSTAD1
p.M107LOV1
p.S129LSKCM1
p.Y194_spliceGBM1
p.P39LSKCM1
p.M1ISKCM1
p.R266QSTAD1
p.T5ILUAD1
p.R637CUCEC1
p.K369NCESC1
p.P532SSKCM1
p.R226HSKCM1
p.R594*STAD1
p.E48XREAD1
p.E399XESCA1
p.R319LLUAD1
p.R643*PRAD1
p.A150TUCEC1
p.R337QBLCA1
p.S295FSKCM1
p.A9VTHYM1
p.M316ISKCM1
p.T434MSKCM1
p.R330KESCA1
p.S92ISTAD1
p.S119NSKCM1
p.E53QLUAD1
p.K588ISKCM1
p.R555KSKCM1
p.G332VESCA1
p.N483SSKCM1
p.R393*GBM1
p.D16NBLCA1
p.G269ESKCM1
p.Q182*SKCM1
p.M581ISKCM1
p.R172XCOAD1
p.Q122*SKCM1
p.R483QPAAD1
p.E48KBLCA1
p.R376HLGG1
p.L481PSKCM1
p.S35LSKCM1
p.D157YUCEC1
p.L552VSKCM1
p.S533FSKCM1
p.P69LSKCM1
p.P528TMESO1
p.E33KSKCM1
p.E90QBLCA1
p.L584RHNSC1
p.R393CLGG1
p.N662SSKCM1
p.A554SBLCA1
p.A164VPRAD1
p.G635VHNSC1
p.R7WLIHC1
p.S364LSKCM1
p.A489TUCEC1
p.S630FSKCM1
p.A139VLIHC1
p.Y134CHNSC1
p.L646VSKCM1
p.D355NBLCA1
p.R376HSTAD1
p.R172QSKCM1
p.D488NSKCM1
p.P527LSKCM1
p.E459KSKCM1
p.A596VUCEC1
p.G629CLUAD1
p.A227TPAAD1
p.G349EBLCA1
p.N467SSARC1
p.Q88XSKCM1
p.S439FSKCM1
p.G255ESKCM1
p.G349ESKCM1
p.A51VREAD1
p.E183XREAD1
p.S536FSKCM1
p.S389FSKCM1
p.R337*SKCM1
p.A164VSKCM1
p.R343LLGG1
p.D398NSARC1
p.R352MBLCA1
p.K369NKIRC1
p.G128ESKCM1
p.K188MCESC1
p.R674HSKCM1
p.R337LUCEC1
p.P492ABLCA1
p.T193MSTAD1
p.G175ESKCM1
p.D73NSKCM1
p.E328KSKCM1
p.T388ILUSC1
p.D137NSKCM1
p.G222ESKCM1
p.L525HSKCM1
p.P532LSKCM1
p.R487CLGG1
p.T144MUCEC1
p.T340MSKCM1
p.S484LSKCM1
p.P396TLUAD1
p.D660NSTAD1
p.D546NSKCM1
p.K391NUCEC1
p.A45TCOAD1
p.P133LSKCM1
p.A227TGBM1
p.A227TPCPG1
p.P80LCOAD1
p.P496SSKCM1
p.T238MSTAD1
p.E248KHNSC1
p.T434MLIHC1
p.R376HKIRP1
p.A96VCOAD1
p.R643QOV1
p.S68LGBM1
p.D170NSKCM1
p.A70TKICH1
p.M1IBLCA1
p.S365XTGCT1
p.S184LHNSC1
p.E677KSKCM1
p.D43NSKCM1
p.R461KSKCM1
p.G33SCOAD1
p.D100NSKCM1
p.P260SSKCM1
p.T112MUCEC1
p.D489NSKCM1
p.S184WLUSC1
p.S38FSKCM1
p.F3LHNSC1
p.T281RBLCA1
p.R376LCHOL1
p.R266QHNSC1
p.R37QSKCM1
p.E657DLUAD1
p.D583VUCEC1
p.D397GSKCM1
p.A164TKICH1
p.T329POV1
p.W658*SKCM1
p.G349ACESC1
p.M487ISKCM1
p.R37QUCEC1
p.P492SGBM1
p.M222ISKCM1


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TissGeneCNV for TP63

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 TP63

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
Chimerdb3.0ChiTaRsNABG698692TP63-MVKchr3:189598181chr12:110034441
Chimerdb3.0ChiTaRsNABQ331863MAN2B2-TP63chr4:6595070chr3:189578930
Chimerdb3.0ChiTaRsNABE843564GABARAPL2-TP63chr16:75611449chr3:189614740
Chimerdb3.0ChiTaRsNAAW852777TNRC6B-TP63chr22:40685643chr3:189449012
Chimerdb3.0FusionScanESCATCGA-IG-A6QS-01ATP63-PINX1In-Framechr3:189526315chr8:10623426
Chimerdb3.0TopHat-FusionLUADTCGA-55-A493-01ATP63-P3H2Out-of-Framechr3:189604182chr3:189682767
TCGAfusionPortalPRADABRCATCGA-E9-A1RH-01ALPP-TP635UTR-CDSChr3:188059507Chr3:189526061
TCGAfusionPortalPRADALGGTCGA-CS-4942-01ALEPREL1-TP63In-frameChr3:189838041Chr3:189526061
TCGAfusionPortalPRADALUSCTCGA-39-5035-01AIL1RAP-TP635UTR-CDSChr3:190232008Chr3:189526061
TCGAfusionPortalPRADASKCMTCGA-GF-A769-01AZMAT3-TP63Out-of-frameChr3:178785271Chr3:189455529


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TissGeneNet for TP63

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)
TP63, TP53, TP53BP2, PPP1R13L, IKBKB, BTRC, TP73, PPP2R5A, DAB2IP, SFN, DPH1, JPH1, BRD8, KRT14, KRT5, AGBL2, KRT6C, ADH5, IRF6, COL17A1, HPX (tumor)TP63, UACA, HSP90AB1, YAP1, SACS, TCF4, DAB2IP, A2M, CDT1, JAG1, MYL9, FLNC, KRT14, PLS3, KRT5, CENPE, KRT6C, CCT8, COL17A1, S1PR5, TDRD9 (normal)
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COAD (tumor)COAD (normal)
TP63, FUS, RELA, HNRNPK, UPF2, SACS, TCF4, UBE2I, PPP2R5A, BECN1, HSPA5, FBXW7, JAG1, SYNCRIP, KRT14, KRT6C, HNRNPR, HNRNPA3, EMX1, S1PR5, SLC35A3 (tumor)TP63, HNRNPAB, MAP1A, SMAD2, SACS, TCF4, NONO, A2M, SMARCD2, CARM1, CDT1, JAG1, FLNC, PIK3C3, HP, KRT14, KRT5, ITIH4, KRT6C, TDRD9, ZBTB4 (normal)
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HNSC (tumor)HNSC (normal)
TP63, PPP1R13L, HNRNPAB, TUBA1C, CPSF6, FASN, SFN, A2M, TOP2A, CAD, CDT1, JAG1, MYL9, SYNCRIP, PLS3, KRT5, CENPE, KRT6C, IRF6, HNRNPA3, ASPM (tumor)TP63, RPL13A, RPL3, PIN1, PPP2R5A, EP300, RPSA, DHX9, GNB2L1, WWP1, JAG1, SYNCRIP, N4BP2, KRT14, PLS3, KRT5, KRT6C, SNRPA, IRF6, COL17A1, SLC35A3 (normal)
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KICH (tumor)KICH (normal)
TP63, UACA, PIN1, TP73, PPP2R5A, FBXW7, CARM1, ITCH, DPH1, CDT1, JPH1, MYL9, FLNC, WT1, RNF38, KRT5, CENPE, HIST1H1D, COL17A1, S1PR5, TDRD9 (tumor)TP63, TUBA1C, CPSF6, FASN, DAXX, RPSA, HSPA5, PSMD2, GNB2L1, RPLP0, WWP1, TMBIM6, KRT14, KRT5, IGF2BP1, AGBL2, SATB2, DDX23, IRF6, HIST1H1D, TRMT11 (normal)
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KIRC (tumor)KIRC (normal)
TP63, FUS, COPS6, UACA, SACS, INPP5E, FBXW7, CARM1, DPH1, ATP5A1, JPH1, JAG1, FLNC, WT1, SYNCRIP, BRD8, KRT5, CENPE, HNRNPL, EMX1, TRMT11 (tumor)TP63, UACA, IKBKB, TCF4, MYL12A, SOX2, FBXW7, TOP2A, PIWIL1, MYL9, FLNC, TMBIM6, KRT14, KRT5, CENPE, KRT6C, ADH5, HNRNPA3, ASPM, HIST1H1D, GAS8 (normal)
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KIRP (tumor)KIRP (normal)
TP63, PPP1R13L, HNRNPK, VCP, TP73, DNAJB6, A2M, EEF1A1, GNB2L1, DPH1, JAG1, FLNC, WT1, RPL12, KRT5, CABLES1, HIST1H1D, S1PR5, GCGR, ZBTB4, SLC35A3 (tumor)TP63, FASN, TP73, TCF4, SOX2, A2M, TOP2A, FLNC, KRT14, KRT5, CENPE, IGF2BP1, CABLES1, KRT6C, SATB2, HNRNPA3, ASPM, EMX1, HIST1H1D, GAS8, S1PR5 (normal)
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LIHC (tumor)LIHC (normal)
TP63, UACA, UPF2, CPSF6, IKBKB, PIN1, SACS, BTRC, EP300, FBXW7, RPLP0, RNF38, MDM4, PIK3C3, KRT14, GOLGA4, KRT5, AGBL2, KRT6C, ASPM, SLC35A3 (tumor)TP63, COPS6, RPL13A, HIPK2, YAP1, TCF4, RPSA, RPL24, GNB2L1, RPLP0, UBE4B, RNF38, PIK3C3, KRT14, PLS3, GOLGA4, KRT5, SNRPA, NIPSNAP3A, HNRNPR, COL17A1 (normal)
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LUAD (tumor)LUAD (normal)
TP63, HSP90AB1, MAP1A, BTRC, TP73, CHUK, PINX1, SOX2, DHX9, HSPA5, CAD, FLNC, KRT5, ITIH4, AGBL2, SEC24C, IRF6, COL17A1, GAS8, NPRL3, SLC35A3 (tumor)TP63, PPP1R13L, CDKN1A, MAP1A, FASN, TP73, TCF4, CHUK, A2M, ATP5A1, JAG1, KRT14, PLS3, KRT5, AGBL2, KRT6C, HNRNPL, IRF6, COL17A1, S1PR5, HPX (normal)
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LUSC (tumor)LUSC (normal)
TP63, SAFB, MAP1A, FASN, TP73, INPP5E, SOX2, JAG1, WT1, KRT14, PLS3, KRT5, AGBL2, KRT6C, SATB2, ADH5, NIPSNAP3A, IRF6, MTHFSD, GAS8, ZBTB4 (tumor)TP63, TUBA1C, TP73, PPP2R5A, SOX2, SFN, A2M, PSMD2, CARM1, JAG1, BRD8, KRT14, PLS3, KRT5, CABLES1, KRT6C, SEC24C, IRF6, EMX1, COL17A1, S1PR5 (normal)
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PRAD (tumor)PRAD (normal)
TP63, PPP1R13L, HNRNPK, CDKN2A, SMAD2, TP73, NONO, JAG1, KRT5, CENPE, AGBL2, DDX23, HNRNPL, NIPSNAP3A, HNRNPR, IRF6, HNRNPA3, CCT8, MTHFSD, COL17A1, S1PR5 (tumor)TP63, PPP1R13L, HNRNPAB, YAP1, MAP1A, TP73, TCF4, DAB2IP, SOX2, SFN, MYL9, FLNC, KRT14, PLS3, KRT5, AGBL2, KRT6C, HNRNPL, COL17A1, S1PR5, ZBTB4 (normal)
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STAD (tumor)STAD (normal)
TP63, TP53BP2, PPP1R13L, MDM2, YAP1, FASN, BTRC, PPP2R5A, SOX2, BECN1, PPP1R13B, ITCH, JAG1, SYNCRIP, N4BP2, KRT14, PLS3, KRT5, KRT6C, SEC24C, S1PR5 (tumor)TP63, PPP1R13L, RPL3, UBC, MDM2, HSP90AB1, SAFB, NONO, SFN, DHX9, FBXW7, JAG1, KRT14, PLS3, KRT5, KRT6C, SATB2, HNRNPR, COL17A1, S1PR5, ZBTB4 (normal)
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THCA (tumor)THCA (normal)
TP63, GRB2, CDKN2A, IKBKB, SACS, TP73, TCF4, SFN, A2M, FBXW7, TOP2A, CDT1, MDM4, TMBIM6, KRT14, KRT5, CENPE, IGF2BP1, SATB2, ASPM, S1PR5 (tumor)TP63, CCNC, UACA, PPP1R13L, RELA, MYL12A, DAB2IP, PPP1R13B, SFN, HSPA5, CAD, ATP5A1, JAG1, KRT14, PLS3, KRT5, KRT6C, ASPM, COL17A1, GAS8, NPRL3 (normal)
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TissGeneProg for TP63

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 TP63
TissGeneDrug for TP63

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 TP63

check button Disease information associated with TissGene
(DisGeNet, 2016-06-01)
Disease IDDisease name# pubmedsSource
umls:C0007137Squamous cell carcinoma58BeFree,CTD_human,LHGDN
umls:C0596263Carcinogenesis51BeFree
umls:C0013575Ectodermal Dysplasia39BeFree,GAD,LHGDN
umls:C2699510Split-Hand/Foot Malformation29BeFree
umls:C0406709Hay-Wells syndrome28BeFree,CLINVAR,CTD_human,MGD,UNIPROT
umls:C0406704Rudiger syndrome 125BeFree,CTD_human,ORPHANET
umls:C0265554Ectrodactyly22BeFree,ORPHANET
umls:C2931019Split hand foot deformity 122BeFree
umls:C0001418Adenocarcinoma18BeFree,CTD_human,GAD,LHGDN
umls:C1168401Squamous cell carcinoma of the head and neck17BeFree
umls:C1785148RAPP-HODGKIN SYNDROME17BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT
umls:C0027627Neoplasm Metastasis16BeFree,CTD_human
umls:C0242379Malignant neoplasm of lung14BeFree,GAD,GWASCAT
umls:C0678222Breast Carcinoma13BeFree
umls:C1863204ADULT SYNDROME12BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT
umls:C0006142Malignant neoplasm of breast11BeFree
umls:C0158646Cleft palate with cleft lip11BeFree
umls:C0339182Ankyloblepharon11BeFree
umls:C0684249Carcinoma of lung11BeFree
umls:C0005684Malignant neoplasm of urinary bladder10BeFree,GAD
umls:C0152013Adenocarcinoma of lung (disorder)10BeFree,CTD_human,GWASCAT
umls:C0600139Prostate carcinoma9BeFree
umls:C0178874Tumor Progression8BeFree
umls:C0376358Malignant neoplasm of prostate8BeFree
umls:C0005695Bladder Neoplasm7BeFree,GAD,LHGDN
umls:C0007131Non-Small Cell Lung Carcinoma7BeFree
umls:C0008925Cleft Palate7BeFree,CTD_human,GAD
umls:C0019693HIV Infections7BeFree
umls:C0699885Carcinoma of bladder7BeFree
umls:C0000768Congenital Abnormality6BeFree
umls:C0029925Ovarian Carcinoma6BeFree
umls:C0008924Cleft Lip5BeFree,CTD_human,GAD,LHGDN
umls:C0024299Lymphoma5BeFree
umls:C0079731B-Cell Lymphomas5BeFree
umls:C0206139Lichen Planus, Oral5BeFree
umls:C0206762Limb Deformities, Congenital5BeFree,CTD_human
umls:C0302592Cervix carcinoma5BeFree
umls:C0686619Secondary malignant neoplasm of lymph node5BeFree
umls:C1140680Malignant neoplasm of ovary5BeFree
umls:C1261473Sarcoma5BeFree
umls:C0010606Adenoid Cystic Carcinoma4BeFree,LHGDN
umls:C0016508Congenital Foot Deformity4BeFree,CTD_human
umls:C0027819Neuroblastoma4BeFree
umls:C0206694Mucoepidermoid Carcinoma4BeFree,LHGDN
umls:C0238198Gastrointestinal Stromal Tumors4BeFree
umls:C0700095Central neuroblastoma4BeFree
umls:C0919267ovarian neoplasm4BeFree,CTD_human,LHGDN
umls:C1858562ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 34CLINVAR,CTD_human,MGD,UNIPROT
umls:C1863753LIMB-MAMMARY SYNDROME4BeFree,CLINVAR,CTD_human,ORPHANET
umls:C0005689Bladder Exstrophy3BeFree,MGD,ORPHANET
umls:C0007129Merkel cell carcinoma3BeFree,LHGDN
umls:C0007133Carcinoma, Papillary3BeFree,LHGDN
umls:C0008073Developmental Disabilities3BeFree
umls:C0009402Colorectal Carcinoma3BeFree
umls:C0010346Crohn Disease3BeFree
umls:C0014859Esophageal Neoplasms3BeFree
umls:C0025202melanoma3BeFree
umls:C0029463Osteosarcoma3BeFree
umls:C0033578Prostatic Neoplasms3BeFree,CTD_mouse,LHGDN
umls:C0033860Psoriasis3BeFree,LHGDN
umls:C0037579Soft Tissue Neoplasms3BeFree
umls:C0038363Aphthous Stomatitis3BeFree
umls:C0038367Ulcerative stomatitis3BeFree
umls:C0152018Esophageal carcinoma3BeFree
umls:C0206623Adenosquamous carcinoma3BeFree
umls:C0235974Pancreatic carcinoma3BeFree
umls:C0279626Squamous cell carcinoma of esophagus3BeFree
umls:C0279671Cervical Squamous Cell Carcinoma3BeFree
umls:C0585213Minor oral aphthous ulceration3BeFree
umls:C0585442Osteosarcoma of bone3BeFree
umls:C1176475Ductal Carcinoma3BeFree,LHGDN
umls:C1527249Colorectal Cancer3BeFree
umls:C1800706Idiopathic Pulmonary Fibrosis3BeFree,LHGDN
umls:C1851710LATERAL MENINGOCELE SYNDROME3BeFree
umls:C1851841ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 13BeFree
umls:C3539878Triple Negative Breast Neoplasms3BeFree
umls:C3811653Experimental Organism Basal Cell Carcinoma3BeFree
umls:C0002452Amelogenesis Imperfecta2BeFree
umls:C0003873Rheumatoid Arthritis2BeFree
umls:C0004096Asthma2BeFree
umls:C0004763Barrett Esophagus2BeFree,LHGDN
umls:C0007114Malignant neoplasm of skin2BeFree
umls:C0007138Carcinoma, Transitional Cell2LHGDN
umls:C0008626Congenital chromosomal disease2BeFree
umls:C0009404Colorectal Neoplasms2CTD_human,LHGDN
umls:C0011854Diabetes Mellitus, Insulin-Dependent2BeFree
umls:C0014072Experimental Autoimmune Encephalomyelitis2BeFree
umls:C0018566Congenital Hand Deformities2BeFree,CTD_human
umls:C0021390Inflammatory Bowel Diseases2BeFree
umls:C0022548Keloid2BeFree,LHGDN
umls:C0022568Keratitis2BeFree
umls:C0023269leiomyosarcoma2BeFree
umls:C0023434Chronic Lymphocytic Leukemia2BeFree
umls:C0024121Lung Neoplasms2CTD_human,GAD
umls:C0024141Lupus Erythematosus, Systemic2BeFree
umls:C0024530Malaria2BeFree
umls:C0026769Multiple Sclerosis2BeFree
umls:C0028754Obesity2BeFree
umls:C0036095Salivary Gland Neoplasms2BeFree
umls:C0037274Dermatologic disorders2BeFree
umls:C0042133Uterine Fibroids2BeFree
umls:C0079774Peripheral T-Cell Lymphoma2BeFree
umls:C0085106Familial benign pemphigus2BeFree
umls:C0149678Epstein-Barr Virus Infections2BeFree
umls:C0149925Small cell carcinoma of lung2BeFree
umls:C0151514Atrophic condition of skin2BeFree
umls:C0153594Malignant neoplasm of testis2BeFree
umls:C0205698Undifferentiated carcinoma2BeFree
umls:C0206638Giant Cell Tumor of Bone2BeFree,LHGDN
umls:C0206650Fibroadenoma2BeFree
umls:C0206664Teratocarcinoma2BeFree
umls:C0206720Squamous Cell Neoplasms2CTD_human,LHGDN
umls:C0206754Neuroendocrine Tumors2BeFree
umls:C0238463Papillary thyroid carcinoma2BeFree
umls:C0241069Superficial ulcer of skin (disorder)2BeFree
umls:C0333875High-Grade Squamous Intraepithelial Lesions2BeFree
umls:C0346647Malignant neoplasm of pancreas2BeFree
umls:C0374997Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site2BeFree
umls:C0375023Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site2BeFree
umls:C0376545Hematologic Neoplasms2BeFree
umls:C0376634Craniofacial Abnormalities2BeFree,CTD_human
umls:C0410702Adolescent idiopathic scoliosis2BeFree
umls:C0432028Split foot2BeFree
umls:C0546837Malignant neoplasm of esophagus2BeFree
umls:C0595989Carcinoma of larynx2BeFree
umls:C0685787Cleft face2BeFree
umls:C0855197Testicular malignant germ cell tumor2BeFree
umls:C1458155Mammary Neoplasms2BeFree
umls:C1709246Non-Neoplastic Disorder2BeFree
umls:C1854442SPLIT-HAND/FOOT MALFORMATION 42CLINVAR,CTD_human,UNIPROT
umls:C2239176Liver carcinoma2BeFree
umls:C0001080Achondroplasia1BeFree
umls:C0004134Ataxia1BeFree
umls:C0004779Basal Cell Nevus Syndrome1BeFree
umls:C0006145Breast Diseases1CTD_human
umls:C0007115Malignant neoplasm of thyroid1BeFree
umls:C0007117Basal cell carcinoma1LHGDN
umls:C0007120Bronchioloalveolar Adenocarcinoma1LHGDN
umls:C0007124Noninfiltrating Intraductal Carcinoma1BeFree
umls:C0007621Neoplastic Cell Transformation1CTD_human
umls:C0007873Uterine Cervical Neoplasm1BeFree
umls:C0008441Chondroblastoma1BeFree
umls:C0008497Choriocarcinoma1LHGDN
umls:C0011615Dermatitis, Atopic1BeFree
umls:C0013502Echinococcosis1BeFree
umls:C0013595Eczema1BeFree
umls:C0014145Yolk Sac Tumor1LHGDN
umls:C0014457Eosinophilia1LHGDN
umls:C0014544Epilepsy1BeFree
umls:C0017525Giant Cell Tumors1BeFree
umls:C0018194Giant Cell Granuloma1LHGDN
umls:C0018418Gynecomastia1BeFree
umls:C0020507Hyperplasia1LHGDN
umls:C0021364Male infertility1BeFree
umls:C0021400Influenza1BeFree
umls:C0022575Keratoconjunctivitis Sicca1BeFree
umls:C0022602Actinic keratosis1BeFree
umls:C0022603Seborrheic keratosis1BeFree
umls:C0023267Fibroid Tumor1BeFree
umls:C0023452Leukemia, Lymphocytic, Acute, L11GWASCAT
umls:C0024117Chronic Obstructive Airway Disease1GAD
umls:C0024301Lymphoma, Follicular1BeFree
umls:C0025286Meningioma1LHGDN
umls:C0025500Mesothelioma1LHGDN
umls:C0026269Mitral Valve Stenosis1BeFree
umls:C0026918Mycobacterium Infections1BeFree
umls:C0026948Mycosis Fungoides1BeFree
umls:C0027070Myoepithelioma1BeFree
umls:C0027708Nephroblastoma1BeFree
umls:C0029417Osteoblastoma1BeFree
umls:C0030297Pancreatic Neoplasm1CTD_human,GAD
umls:C0032019Pituitary Neoplasms1BeFree
umls:C0036631Seminoma1LHGDN
umls:C0037268Skin Abnormalities1CTD_human
umls:C0038987Sweat Gland Neoplasms1CTD_human
umls:C0039075Syndactyly1BeFree
umls:C0039538Teratoma1BeFree
umls:C0040100Thymoma1LHGDN
umls:C0040336Tobacco Use Disorder1GAD
umls:C0041296Tuberculosis1BeFree
umls:C0042755Virilism1BeFree
umls:C0079773Lymphoma, T-Cell, Cutaneous1BeFree
umls:C0080032Pleural Effusion, Malignant1BeFree
umls:C0085750Adenosis of Breast1BeFree
umls:C0149782Squamous cell carcinoma of lung1BeFree
umls:C0151860Acquired porencephaly1BeFree
umls:C0152244Bone Cysts, Aneurysmal1BeFree
umls:C0153381Malignant neoplasm of mouth1BeFree
umls:C0153676Secondary malignant neoplasm of lung1BeFree
umls:C0155877Allergic asthma1BeFree
umls:C0162361Hidrotic Ectodermal Dysplasia1BeFree
umls:C0162810Cicatrix, Hypertrophic1BeFree,LHGDN
umls:C0206180Ki-1+ Anaplastic Large Cell Lymphoma1BeFree
umls:C0206658Smooth Muscle Tumor1BeFree
umls:C0206659Embryonal Carcinoma1LHGDN
umls:C0206666Trophoblastic Tumor, Placental Site1BeFree
umls:C0206674Adenoma, Villous1LHGDN
umls:C0206704Carcinoma, Large Cell1LHGDN
umls:C0206706Verrucous carcinoma1BeFree
umls:C0220641Lip and Oral Cavity Carcinoma1BeFree
umls:C0221228Comedone1BeFree
umls:C0221269Pseudolymphoma1BeFree
umls:C0233794Memory impairment1BeFree
umls:C0239337Deformity of limb1BeFree
umls:C0263361Psoriasis vulgaris1BeFree
umls:C0276262Verruca plana1BeFree
umls:C0278601Inflammatory Breast Carcinoma1BeFree
umls:C0279651Gallbladder adenocarcinoma1BeFree
umls:C0280324Laryngeal Squamous Cell Carcinoma1BeFree
umls:C0282612Prostatic Intraepithelial Neoplasias1CTD_mouse
umls:C0349788Arrhythmogenic Right Ventricular Dysplasia1BeFree,LHGDN
umls:C0392077Cardiac sarcoidosis1BeFree
umls:C0406557Poikiloderma of Kindler1BeFree
umls:C0494165Secondary malignant neoplasm of liver1BeFree
umls:C0549379Recurrent Carcinoma1BeFree
umls:C0549473Thyroid carcinoma1BeFree
umls:C0553723Squamous cell carcinoma of skin1BeFree
umls:C0559260Congenital scoliosis1BeFree
umls:C0585362Squamous cell carcinoma of mouth1BeFree
umls:C0677898invasive cancer1BeFree
umls:C0936016Testicular Feminization1BeFree
umls:C1265996Large cell neuroendocrine carcinoma1BeFree
umls:C1266089Metaplastic carcinoma1BeFree
umls:C1319315Adenocarcinoma of large intestine1BeFree
umls:C1333878B-Cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-Cell Lymphoma and Classical Hodgkin Lymphoma1BeFree
umls:C1334455Pulmonary Sclerosing Hemangioma1BeFree
umls:C1368683Epithelioma1BeFree
umls:C1512409Hepatocarcinogenesis1BeFree
umls:C1518171Malignant Conversion1BeFree
umls:C1519346Skin Carcinogenesis1BeFree
umls:C1561549Glomerular filtration rate finding1GAD
umls:C1561989Limbal stem cell deficiency1BeFree
umls:C1707291NUT Midline Carcinoma1BeFree
umls:C1720887Female Urogenital Diseases1CTD_human
umls:C1837217Cleft lip, isolated1BeFree
umls:C1867983PORENCEPHALY, FAMILIAL1BeFree
umls:C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1GAD
umls:C2931822Nasopharyngeal carcinoma1BeFree
umls:C2986622Cervical Intraepithelial Neoplasia Grade 2/31BeFree
umls:C3273239Proliferative Inflammatory Atrophy1BeFree
umls:C0017168Gastroesophageal reflux disease0MGD
umls:C1851878OROFACIAL CLEFT 80CLINVAR