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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 NKX2-1
check button Gene summary
Basic gene informationGene symbolNKX2-1
Gene nameNK2 homeobox 1
SynonymsBCH|BHC|NK-2|NKX2.1|NKX2A|T/EBP|TEBP|TITF1|TTF-1|TTF1
CytomapUCSC genome browser: 14q13
Type of geneprotein-coding
RefGenesNM_001079668.2,
NM_003317.3,
DescriptionNK-2 homolog Ahomeobox protein NK-2 homolog Ahomeobox protein Nkx-2.1thyroid nuclear factor 1thyroid transcription factor 1thyroid-specific enhancer-binding protein
Modification date20141207
dbXrefs MIM : 600635
HGNC : HGNC
Ensembl : ENSG00000136352
HPRD : 02798
Vega : OTTHUMG00000140225
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NKX2-1
BioGPS: 7080
PathwayNCI Pathway Interaction Database: NKX2-1
KEGG: NKX2-1
REACTOME: NKX2-1
Pathway Commons: NKX2-1
ContextiHOP: NKX2-1
ligand binding site mutation search in PubMed: NKX2-1
UCL Cancer Institute: NKX2-1
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)LungThyroid gland
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA)LUAD,LUSCTHCA
Reference showing the relevant tissue of NKX2-1
Description by TissGene annotationsCancer gene
TissgsKTS
CNV lost TissGeneKTS
* 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:0010628positive regulation of gene expression16960125
GO:0010719negative regulation of epithelial to mesenchymal transition19293183
GO:0030336negative regulation of cell migration19293183
GO:0030512negative regulation of transforming growth factor beta receptor signaling pathway19293183
GO:0045893positive regulation of transcription, DNA-templated14960358
GO:0045944positive regulation of transcription from RNA polymerase II promoter16960125
GO:0010628positive regulation of gene expression16960125
GO:0010719negative regulation of epithelial to mesenchymal transition19293183
GO:0030336negative regulation of cell migration19293183
GO:0030512negative regulation of transforming growth factor beta receptor signaling pathway19293183
GO:0045893positive regulation of transcription, DNA-templated14960358
GO:0045944positive regulation of transcription from RNA polymerase II promoter16960125


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TissGeneExp for NKX2-1

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)

- 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 NKX2-1

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 NKX2-1
TissGeneSNV for NKX2-1

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.S12LBLCA1
p.M1KCOAD1
p.P131LSTAD1
p.S187LLGG1
p.G134SLUAD1
p.G92VKIRP1
p.P190TSTAD1
p.G33SSKCM1
p.M29ISKCM1
p.R29*PRAD1
p.G172RLUSC1
p.E190*BLCA1
p.R213HPAAD1
p.A188VLGG1
p.H199YSKCM1
p.P160TSTAD1
p.K163ETHCA1
p.S169*LGG1
p.K25NTHCA1
p.Y86CLUAD1
p.A39VLUAD1
p.G92CLGG1
p.A102ELIHC1
p.P22SHNSC1
p.G122VKIRP1
p.M31TBLCA1
p.L347PCOAD1
p.T272SLIHC1
p.R243HPAAD1
p.R218CCOAD1
p.A116TSTAD1
p.A189TSTAD1
p.L200MSTAD1
p.S187LCOAD1
p.A87TCESC1
p.L230MSTAD1
p.A159TSTAD1


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TissGeneCNV for NKX2-1

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 NKX2-1

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
TCGAfusionPortalPRADALUADTCGA-L9-A444-01ABAZ1A-NKX2-1In-frameChr14:35331250Chr14:36988575
TCGAfusionPortalPRADALUSCTCGA-39-5034-01ANKX2-1-SLC25A21Out-of-frameChr14:36988190Chr14:37153085


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TissGeneNet for NKX2-1

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)
NKX2-1, NCK1, NCOA3, HIPK2, SP1, GRB2, RELA, SRC, RARA, NCOA1, FYN, NCOA2, RAB3GAP2, CALR, SP3, TDG, CCDC59, GATA6, PTRF, TG, SFTPB (tumor)NKX2-1, NCK1, NCOA3, SP1, GRB2, RELA, SRC, RARA, CREBBP, NCOA1, FYN, NCOA2, RAB3GAP2, CALR, SP3, TDG, WWTR1, PAX8, CCDC59, GATA6, SFTPB (normal)
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COAD (tumor)COAD (normal)
NKX2-1, NCOA3, HIPK2, SP1, GRB2, RELA, MAPK1, CREBBP, FYN, NCOA2, RAB3GAP2, ABL1, CALR, SP3, TDG, WWTR1, PAX8, CCDC59, GATA6, PTRF, SFTPB (tumor)NKX2-1, HIPK2, SP1, RELA, SRC, MAPK1, RARA, CREBBP, NCOA1, FYN, NCOA2, RAB3GAP2, ABL1, CRK, TDG, WWTR1, PAX8, CCDC59, PTRF, TG, SFTPB (normal)
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HNSC (tumor)HNSC (normal)
NKX2-1, NCK1, NCOA3, SP1, GRB2, RELA, SRC, MAPK1, RARA, CREBBP, NCOA1, FYN, RAB3GAP2, ABL1, CALR, SP3, TDG, PAX8, GATA6, PTRF, SFTPB (tumor)NKX2-1, SP1, GRB2, RELA, MAPK1, RARA, CREBBP, NCOA1, FYN, NCOA2, ABL1, CALR, SP3, TDG, WWTR1, PAX8, CCDC59, GATA6, PTRF, TG, SFTPB (normal)
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KICH (tumor)KICH (normal)
NKX2-1, NCK1, NCOA3, HIPK2, SP1, RELA, SRC, MAPK1, CREBBP, NCOA1, NCOA2, RAB3GAP2, ABL1, CALR, SP3, WWTR1, PAX8, CCDC59, PTRF, TG, SFTPB (tumor)NKX2-1, NCK1, NCOA3, HIPK2, SP1, GRB2, SRC, RARA, CREBBP, NCOA1, FYN, RAB3GAP2, ABL1, CRK, TDG, WWTR1, PAX8, CCDC59, GATA6, TG, SFTPB (normal)
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KIRC (tumor)KIRC (normal)
NKX2-1, HIPK2, SP1, GRB2, RELA, SRC, MAPK1, RARA, CREBBP, NCOA1, FYN, NCOA2, RAB3GAP2, ABL1, TDG, WWTR1, PAX8, CCDC59, GATA6, PTRF, SFTPB (tumor)NKX2-1, NCK1, HIPK2, SRC, MAPK1, CREBBP, NCOA1, FYN, NCOA2, RAB3GAP2, ABL1, CALR, SP3, CRK, TDG, WWTR1, PAX8, CCDC59, GATA6, TG, SFTPB (normal)
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KIRP (tumor)KIRP (normal)
NKX2-1, NCK1, HIPK2, GRB2, RELA, MAPK1, RARA, CREBBP, FYN, NCOA2, RAB3GAP2, ABL1, CALR, CRK, WWTR1, PAX8, CCDC59, GATA6, PTRF, TG, SFTPB (tumor)NKX2-1, NCK1, NCOA3, HIPK2, SP1, RELA, RARA, CREBBP, FYN, NCOA2, RAB3GAP2, ABL1, CALR, SP3, TDG, WWTR1, CCDC59, GATA6, PTRF, TG, SFTPB (normal)
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LIHC (tumor)LIHC (normal)
NKX2-1, NCK1, HIPK2, SP1, GRB2, RELA, MAPK1, CREBBP, NCOA1, NCOA2, RAB3GAP2, ABL1, CALR, SP3, CRK, TDG, WWTR1, PAX8, CCDC59, TG, SFTPB (tumor)NKX2-1, NCK1, NCOA3, HIPK2, SP1, MAPK1, RARA, CREBBP, NCOA1, FYN, RAB3GAP2, ABL1, CALR, SP3, TDG, WWTR1, PAX8, GATA6, PTRF, TG, SFTPB (normal)
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LUAD (tumor)LUAD (normal)
NKX2-1, NCK1, NCOA3, HIPK2, SP1, RELA, SRC, MAPK1, RARA, CREBBP, FYN, NCOA2, CALR, SP3, CRK, TDG, WWTR1, PAX8, CCDC59, TG, SFTPB (tumor)NKX2-1, NCK1, NCOA3, HIPK2, SP1, GRB2, RELA, SRC, RARA, CREBBP, NCOA1, FYN, NCOA2, SP3, CRK, TDG, PAX8, CCDC59, GATA6, TG, SFTPB (normal)
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LUSC (tumor)LUSC (normal)
NKX2-1, NCK1, NCOA3, HIPK2, GRB2, RELA, SRC, RARA, NCOA1, FYN, NCOA2, RAB3GAP2, ABL1, CALR, SP3, CRK, TDG, WWTR1, PTRF, TG, SFTPB (tumor)NKX2-1, NCK1, HIPK2, SP1, GRB2, RELA, MAPK1, RARA, FYN, NCOA2, RAB3GAP2, ABL1, CALR, SP3, TDG, WWTR1, CCDC59, GATA6, PTRF, TG, SFTPB (normal)
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PRAD (tumor)PRAD (normal)
NKX2-1, HIPK2, GRB2, RELA, SRC, MAPK1, NCOA1, FYN, NCOA2, RAB3GAP2, ABL1, CALR, SP3, CRK, TDG, WWTR1, PAX8, GATA6, PTRF, TG, SFTPB (tumor)NKX2-1, NCK1, HIPK2, SP1, GRB2, RELA, SRC, MAPK1, CREBBP, NCOA1, ABL1, CALR, SP3, CRK, TDG, PAX8, CCDC59, GATA6, PTRF, TG, SFTPB (normal)
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STAD (tumor)STAD (normal)
NKX2-1, NCK1, GRB2, RELA, SRC, MAPK1, RARA, CREBBP, NCOA1, FYN, NCOA2, RAB3GAP2, ABL1, CALR, CRK, TDG, WWTR1, GATA6, PTRF, TG, SFTPB (tumor)NKX2-1, NCK1, NCOA3, HIPK2, SP1, GRB2, SRC, MAPK1, RARA, FYN, NCOA2, RAB3GAP2, ABL1, CALR, SP3, CRK, TDG, GATA6, PTRF, TG, SFTPB (normal)
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THCA (tumor)THCA (normal)
NKX2-1, NCOA3, HIPK2, GRB2, RELA, SRC, MAPK1, RARA, CREBBP, NCOA1, FYN, ABL1, CALR, SP3, CRK, TDG, WWTR1, PAX8, PTRF, TG, SFTPB (tumor)NKX2-1, NCK1, NCOA3, SP1, GRB2, SRC, MAPK1, RARA, CREBBP, NCOA1, NCOA2, RAB3GAP2, ABL1, CALR, SP3, CRK, WWTR1, PAX8, CCDC59, GATA6, TG (normal)
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TissGeneProg for NKX2-1

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 NKX2-1
TissGeneDrug for NKX2-1

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 NKX2-1

check button Disease information associated with TissGene
(DisGeNet, 2016-06-01)
Disease IDDisease name# pubmedsSource
umls:C0001418Adenocarcinoma69BeFree,LHGDN
umls:C0152013Adenocarcinoma of lung (disorder)28BeFree
umls:C0242379Malignant neoplasm of lung24BeFree
umls:C0684249Carcinoma of lung21BeFree
umls:C0393584Benign Hereditary Chorea20BeFree,CLINVAR,ORPHANET,UNIPROT
umls:C0010308Congenital Hypothyroidism17BeFree,GAD,LHGDN
umls:C0342200Endemic Cretinism17BeFree
umls:C0549473Thyroid carcinoma15BeFree,GAD
umls:C0007131Non-Small Cell Lung Carcinoma14BeFree
umls:C0238463Papillary thyroid carcinoma14BeFree,ORPHANET
umls:C0007137Squamous cell carcinoma13BeFree
umls:C0024121Lung Neoplasms12BeFree,LHGDN
umls:C0040136Thyroid Neoplasm10BeFree,GAD,LHGDN
umls:C0020676Hypothyroidism8BeFree,LHGDN
umls:C0596263Carcinogenesis8BeFree
umls:C1563716Thyroid Dysgenesis8BeFree
umls:C0024115Lung diseases7BeFree,CTD_human
umls:C0027627Neoplasm Metastasis7BeFree
umls:C0262584Carcinoma, Small Cell7BeFree
umls:C0007133Carcinoma, Papillary6BeFree,GAD
umls:C1145670Respiratory Failure6BeFree
umls:C0007115Malignant neoplasm of thyroid5BeFree
umls:C0032002Pituitary Diseases5BeFree
umls:C0149925Small cell carcinoma of lung5BeFree,LHGDN
umls:C1970269Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress5BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT
umls:C0007095Carcinoid Tumor4BeFree
umls:C0008489Chorea4BeFree,CTD_human,LHGDN
umls:C0678222Breast Carcinoma4BeFree
umls:C1337013Differentiated Thyroid Gland Carcinoma4BeFree
umls:C0001430Adenoma3BeFree,LHGDN
umls:C0006142Malignant neoplasm of breast3BeFree
umls:C0007130Mucinous Adenocarcinoma3BeFree
umls:C0019284Diaphragmatic Hernia3CTD_human,RGD
umls:C0019569Hirschsprung Disease3BeFree,GAD,LHGDN
umls:C0032227Pleural effusion disorder3BeFree
umls:C0178874Tumor Progression3BeFree
umls:C0238461Anaplastic thyroid carcinoma3BeFree
umls:C0852283Respiratory Distress Syndrome3BeFree
umls:C1334455Pulmonary Sclerosing Hemangioma3BeFree,LHGDN
umls:C0002793Anaplasia2BeFree
umls:C0004096Asthma2BeFree
umls:C0004134Ataxia2BeFree
umls:C0019693HIV Infections2BeFree
umls:C0032285Pneumonia2BeFree
umls:C0035204Respiration Disorders2BeFree
umls:C0035242Respiratory Tract Diseases2BeFree
umls:C0085583Choreoathetosis2BeFree
umls:C0205696Anaplastic carcinoma2BeFree
umls:C0205698Undifferentiated carcinoma2BeFree
umls:C0206704Carcinoma, Large Cell2BeFree
umls:C0220650Metastatic malignant neoplasm to brain2BeFree
umls:C0238462Medullary carcinoma of thyroid2BeFree
umls:C0265783Congenital hypoplasia of lung2BeFree
umls:C0342208Multinodular goiter2BeFree
umls:C0699734progressive chorea2BeFree
umls:C1265996Large cell neuroendocrine carcinoma2BeFree
umls:C1709246Non-Neoplastic Disorder2BeFree
umls:C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma2BeFree
umls:C0000768Congenital Abnormality1BeFree
umls:C0007103Malignant neoplasm of endometrium1BeFree
umls:C0007621Neoplastic Cell Transformation1GAD
umls:C0009404Colorectal Neoplasms1BeFree
umls:C0011265Presenile dementia1BeFree
umls:C0013362Dysarthria1BeFree
umls:C0013421Dystonia1BeFree
umls:C0016522Foramen Ovale, Patent1GAD
umls:C0017154Gastritis, Atrophic1BeFree
umls:C0018021Goiter1BeFree
umls:C0018023Nodular Goiter1GAD
umls:C0018213Graves Disease1BeFree
umls:C0019348Herpes Simplex Infections1BeFree
umls:C0020179Huntington Disease1BeFree
umls:C0024117Chronic Obstructive Airway Disease1BeFree
umls:C0025202melanoma1BeFree
umls:C0025267Multiple Endocrine Neoplasia Type 11BeFree
umls:C0026650Movement Disorders1BeFree
umls:C0026827Muscle hypotonia1BeFree
umls:C0027066Myoclonus1BeFree
umls:C0027708Nephroblastoma1LHGDN
umls:C0028754Obesity1GAD
umls:C0029925Ovarian Carcinoma1BeFree
umls:C0032460Polycystic Ovary Syndrome1GAD
umls:C0034012Delayed Puberty1GAD
umls:C0034013Precocious Puberty1GAD
umls:C0038454Cerebrovascular accident1GAD
umls:C0079744Diffuse Large B-Cell Lymphoma1BeFree
umls:C0080032Pleural Effusion, Malignant1BeFree
umls:C0085110Severe Combined Immunodeficiency1BeFree
umls:C0085167Granular cell tumor1BeFree
umls:C0085215Ovarian Failure, Premature1GAD
umls:C0206062Lung Diseases, Interstitial1BeFree
umls:C0206693Medullary carcinoma1LHGDN
umls:C0206695Carcinoma, Neuroendocrine1LHGDN
umls:C0235031Neurologic Symptoms1BeFree
umls:C0265780Congenital absence of lung1BeFree
umls:C0271829Pendred's syndrome1BeFree
umls:C0334276Adenocarcinoma in Situ1BeFree
umls:C0342196Thyroid Dyshormonogenesis 51BeFree
umls:C0342409Hypophysitis1BeFree
umls:C0342419Pituitary mass1BeFree
umls:C0345963Benign neoplasm of lung1BeFree
umls:C0349476Congenital goiter1BeFree
umls:C0393593Dystonia Disorders1BeFree
umls:C0424605Developmental delay (disorder)1BeFree
umls:C0456891Primary pulmonary hypoplasia1BeFree
umls:C0476089Endometrial Carcinoma1BeFree
umls:C0497327Dementia1BeFree
umls:C0520947Clumsiness - motor delay1BeFree
umls:C0521158Recurrent tumor1BeFree
umls:C0521648Neonatal respiratory failure1BeFree
umls:C0854988Adenocarcinoma of lung, stage IV1BeFree
umls:C0919267ovarian neoplasm1BeFree
umls:C1140680Malignant neoplasm of ovary1BeFree
umls:C1266050Poorly Differentiated Thyroid Carcinoma1BeFree
umls:C1333873Granular cell tumor of neurohypophysis1BeFree
umls:C1569637Adenocarcinoma, Endometrioid1BeFree
umls:C1834570Myoclonic dystonia1BeFree
umls:C1868682Paroxysmal kinesigenic choreoathetosis1BeFree
umls:C1883486Uterine Corpus Cancer1BeFree
umls:C2986550Pituicytoma1BeFree
umls:C3161105Neuroendocrine cell hyperplasia of infancy1BeFree