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| TissGeneSummary for PAX8 |
 Gene summary |
| Basic gene information | Gene symbol | PAX8 |
| Gene name | paired box 8 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 2q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003466.3, NM_013952.3,NM_013953.3,NM_013992.3,NM_013951.3, | |
| Description | paired box protein Pax-8paired domain gene 8 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 167415 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000125618 | ||
| HPRD : 01335 | ||
| Vega : OTTHUMG00000128529 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PAX8 | |
| BioGPS: 7849 | ||
| Pathway | NCI Pathway Interaction Database: PAX8 | |
| KEGG: PAX8 | ||
| REACTOME: PAX8 | ||
| Pathway Commons: PAX8 | ||
| Context | iHOP: PAX8 | |
| ligand binding site mutation search in PubMed: PAX8 | ||
| UCL Cancer Institute: PAX8 | ||
| Assigned class in TissGDB* | A | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | KidneyOvaryThyroid gland | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICHOVTHCA | |
| Reference showing the relevant tissue of PAX8 | Action of hypoxia-inducible factor in liver and kidney from mice with Pax8-rtTA-based deletion of von Hippel-Lindau protein. Mathia S, Paliege A, Koesters R, Peters H, Neumayer HH, Bachmann S, Rosenberger C. Acta Physiol (Oxf). 2013 Mar;207(3):565-76. doi: 10.1111/apha.12058. (pmid:23384425) go to articleImmunohistochemistry in the Diagnosis of Mucinous Neoplasms Involving the Ovary: The Added Value of SATB2 and Biomarker Discovery Through Protein Expression Database Mining. Strickland S, Wasserman JK, Giassi A, Djordjevic B, Parra-Herran C. Int J Gynecol Pathol. 2016 May;35(3):191-208. doi: 10.1097/PGP.0000000000000238 (pmid:26535987) go to article | |
| Description by TissGene annotations | Protective TissGene in OS Protective TissGene in RFS Cancer gene Have significant anti-correlated miRNA Fused withTSGene Fused withOncogene | |
| * 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. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID | GO:0006351 | transcription, DNA-templated | 8413205 | GO:0045893 | positive regulation of transcription, DNA-templated | 15356023 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 9388203 | GO:0071371 | cellular response to gonadotropin stimulus | 15961562 | GO:0006351 | transcription, DNA-templated | 8413205 | GO:0045893 | positive regulation of transcription, DNA-templated | 15356023 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 9388203 | GO:0071371 | cellular response to gonadotropin stimulus | 15961562 |
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| TissGeneExp for PAX8 |
| 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) |
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| 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) |
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| 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. |
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| 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) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| KIRC | 3.051730502 | 4.375568002 | -1.3238375 | 6.99E-21 | 5.98E-20 |
| KICH | 3.685087391 | 4.835399391 | -1.150312 | 9.48E-10 | 5.97E-09 |
| PRAD | -3.331586378 | -2.139778686 | -1.191807692 | 0.0124 | 0.029220189 |
| STAD | -0.293580609 | -1.726618109 | 1.4330375 | 1.20E-05 | 0.000135618 |
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| TissGene-miRNA for PAX8 |
| 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 type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
| THYM | hsa-miR-378a-3p | MIMAT0000732 | 0.0036 | -0.26 | 122 |
| LUAD | hsa-miR-378c | MIMAT0016847 | 0.025 | -0.3 | 60 |
| LUAD | hsa-miR-330-5p | MIMAT0004693 | 0.011 | -0.33 | 60 |
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| TissGeneMut for PAX8 |
| TissGeneSNV for PAX8 |
| 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. |
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| 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) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.S322F | SKCM | 2 |
| p.P321L | SKCM | 2 |
| p.P296L | SKCM | 2 |
| p.P161S | SKCM | 1 |
| p.G218R | STAD | 1 |
| p.S193I | UCEC | 1 |
| p.M144I | SKCM | 1 |
| p.F329I | LUSC | 1 |
| p.R49C | STAD | 1 |
| p.P27Q | KIRC | 1 |
| p.R364X | COAD | 1 |
| p.G78S | SKCM | 1 |
| p.P155H | KIRP | 1 |
| p.E106D | UCEC | 1 |
| p.N282I | BLCA | 1 |
| p.A164D | LUSC | 1 |
| p.T225M | SKCM | 1 |
| p.G56C | LUAD | 1 |
| p.L153M | UCEC | 1 |
| p.I34N | LIHC | 1 |
| p.G257S | SKCM | 1 |
| p.P219H | LUAD | 1 |
| p.S412F | LUSC | 1 |
| p.C45* | HNSC | 1 |
| p.D36Y | LUAD | 1 |
| p.C325S | BLCA | 1 |
| p.R133Q | STAD | 1 |
| p.E67K | UCEC | 1 |
| p.N119D | STAD | 1 |
| p.P219S | SKCM | 1 |
| p.K82N | UCEC | 1 |
| p.R97H | CHOL | 1 |
| p.P219H | GBM | 1 |
| p.P346L | UCEC | 1 |
| p.R64S | LGG | 1 |
| p.A388V | PRAD | 1 |
| p.A390V | HNSC | 1 |
| p.I307T | LUSC | 1 |
| p.V35I | PAAD | 1 |
| p.P372L | SKCM | 1 |
| p.E415K | UCEC | 1 |
| p.S362* | CESC | 1 |
| p.K82N | LUAD | 1 |
| p.P155S | SKCM | 1 |
| p.Q333* | BRCA | 1 |
| p.S214R | UCEC | 1 |
| p.S329L | SKCM | 1 |
| p.G274R | SKCM | 1 |
| p.R287H | COAD | 1 |
| p.E234K | SKCM | 1 |
| p.S79C | LUAD | 1 |
| p.R263H | BRCA | 1 |
| p.A306T | LGG | 1 |
| p.P27L | DLBC | 1 |
| p.P321S | SKCM | 1 |
| p.R72W | STAD | 1 |
| p.V351M | COAD | 1 |
| p.V122L | LUAD | 1 |
| p.E237K | KIRP | 1 |
| p.N343T | LUAD | 1 |
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| TissGeneCNV for PAX8 |
| 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) |
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| TissGeneFusions for PAX8 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| Chimerdb3.0 | ChiTaRs | NA | BF086841 | PAX8-PAX8 | chr2:113999951 | chr2:113997806 | |
| Chimerdb3.0 | ChiTaRs | NA | BG164921 | PAX8-PAX8 | chr2:113975955 | chr2:113975267 | |
| Chimerdb3.0 | ChiTaRs | NA | BI001018 | PAX8-PAX8 | chr2:114016930 | chr2:114016359 | |
| Chimerdb3.0 | ChiTaRs | NA | BF853131 | PAX8-CNDP2 | chr2:114001444 | chr18:72176191 | |
| Chimerdb3.0 | ChiTaRs | NA | DN917747 | RPS6KC1-PAX8 | chr1:213300126 | chr2:113996932 | |
| Chimerdb3.0 | ChiTaRs | NA | BQ329957 | CNDP2-PAX8 | chr18:72176450 | chr2:114001208 | |
| Chimerdb3.0 | ChiTaRs | NA | BI010769 | CNDP2-PAX8 | chr18:72176440 | chr2:114001208 | |
| Chimerdb3.0 | FusionScan | UCEC | TCGA-KP-A3VZ-01A | PAX8-IL36B | In-Frame | chr2:114035946 | chr2:113788732 |
| TCGAfusionPortal | PRADA | THCA | TCGA-BJ-A0YZ-01A | PPARG-PAX8 | 5UTR-CDS | Chr3:12353952 | Chr2:113984833 |
| TCGAfusionPortal | PRADA | THCA | TCGA-BJ-A0YZ-01A | PAX8-PPARG | CDS-5UTR | Chr2:113994178 | Chr3:12421203 |
| TCGAfusionPortal | PRADA | THCA | TCGA-BJ-A291-01A | PAX8-GLIS1 | CDS-5UTR | Chr2:114035947 | Chr1:54065951 |
| TCGAfusionPortal | PRADA | THCA | TCGA-BJ-A291-01A | LRP8-PAX8 | In-frame | Chr1:53723991 | Chr2:114004496 |
| TCGAfusionPortal | PRADA | THCA | TCGA-DE-A4M9-01A | PPARG-PAX8 | 5UTR-CDS | Chr3:12353952 | Chr2:113984833 |
| TCGAfusionPortal | PRADA | THCA | TCGA-DE-A4M9-01A | PAX8-PPARG | CDS-5UTR | Chr2:113992971 | Chr3:12421203 |
| TCGAfusionPortal | PRADA | THCA | TCGA-EM-A2CP-01A | PAX8-NFE2L2 | In-frame | Chr2:113999128 | Chr2:178097311 |
| TCGAfusionPortal | PRADA | THCA | TCGA-EM-A3AJ-01A | PPARG-PAX8 | 5UTR-CDS | Chr3:12353952 | Chr2:113984833 |
| TCGAfusionPortal | PRADA | THCA | TCGA-EM-A3AJ-01A | PAX8-PPARG | CDS-5UTR | Chr2:113992971 | Chr3:12421203 |
| TCGAfusionPortal | PRADA | THCA | TCGA-ET-A39N-01A | PAX8-PPARG | CDS-5UTR | Chr2:113992971 | Chr3:12421203 |
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| TissGeneNet for PAX8 |
| 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) |
| PAX8, TP53, HNF4A, SMAD3, E2F1, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (tumor) | PAX8, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (normal) |
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| COAD (tumor) | COAD (normal) |
| PAX8, TP53, HNF4A, SMAD3, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (tumor) | PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (tumor) | PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, RSBN1, SERINC1, UNK (normal) |
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| KICH (tumor) | KICH (normal) |
| PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, SERINC1, UNK (tumor) | PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (normal) |
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| KIRC (tumor) | KIRC (normal) |
| PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (tumor) | PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (normal) |
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| KIRP (tumor) | KIRP (normal) |
| PAX8, TP53, HNF4A, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (tumor) | PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (normal) |
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| LIHC (tumor) | LIHC (normal) |
| PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (tumor) | PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, RSBN1, SERINC1, UNK (normal) |
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| LUAD (tumor) | LUAD (normal) |
| PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (tumor) | PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CXCL9, RSBN1, SERINC1, UNK (normal) |
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| LUSC (tumor) | LUSC (normal) |
| PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (tumor) | PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, SERINC1, UNK (normal) |
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| PRAD (tumor) | PRAD (normal) |
| PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, SERINC1, UNK (tumor) | PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, RSBN1, UNK (normal) |
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| STAD (tumor) | STAD (normal) |
| PAX8, TP53, HNF4A, SMAD3, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (tumor) | PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, WBP2, RPLP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (normal) |
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| THCA (tumor) | THCA (normal) |
| PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, RPLP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (tumor) | PAX8, TP53, HNF4A, SMAD3, E2F1, NCL, ANXA7, HSPA1B, CHUK, EP300, HSPA1A, RB1, ID2, NKX2-1, WBP2, POU2AF1, CLSTN1, CXCL9, RSBN1, SERINC1, UNK (normal) |
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| TissGeneProg for PAX8 |
| 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. |
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| 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. |
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| 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. |
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| 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. |
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| TissGeneClin for PAX8 |
| TissGeneDrug for PAX8 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for PAX8 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0206682 | Follicular thyroid carcinoma | 32 | BeFree |
| umls:C0010308 | Congenital Hypothyroidism | 22 | BeFree,GAD,LHGDN |
| umls:C0342200 | Endemic Cretinism | 22 | BeFree |
| umls:C0549473 | Thyroid carcinoma | 21 | BeFree |
| umls:C1563716 | Thyroid Dysgenesis | 18 | BeFree,LHGDN |
| umls:C0007115 | Malignant neoplasm of thyroid | 15 | BeFree |
| umls:C0040136 | Thyroid Neoplasm | 15 | BeFree,LHGDN |
| umls:C0238463 | Papillary thyroid carcinoma | 11 | BeFree,ORPHANET |
| umls:C0001430 | Adenoma | 10 | BeFree,LHGDN |
| umls:C0027708 | Nephroblastoma | 8 | BeFree |
| umls:C0151516 | Thyroid Hypoplasia | 8 | BeFree,ORPHANET |
| umls:C0029925 | Ovarian Carcinoma | 6 | BeFree |
| umls:C0596263 | Carcinogenesis | 6 | BeFree |
| umls:C0020676 | Hypothyroidism | 5 | BeFree,LHGDN |
| umls:C0238461 | Anaplastic thyroid carcinoma | 5 | BeFree |
| umls:C1140680 | Malignant neoplasm of ovary | 5 | BeFree |
| umls:C0007134 | Renal Cell Carcinoma | 4 | BeFree |
| umls:C0205647 | Follicular adenoma | 4 | BeFree |
| umls:C0001418 | Adenocarcinoma | 3 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 3 | BeFree |
| umls:C0040137 | Thyroid Nodule | 3 | BeFree |
| umls:C0474808 | Follicular neoplasm | 3 | BeFree |
| umls:C1869118 | HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS | 3 | CTD_human,MGD,UNIPROT |
| umls:C0000768 | Congenital Abnormality | 2 | BeFree |
| umls:C0002793 | Anaplasia | 2 | BeFree |
| umls:C0007133 | Carcinoma, Papillary | 2 | BeFree |
| umls:C0010709 | Cyst | 2 | BeFree |
| umls:C0205696 | Anaplastic carcinoma | 2 | BeFree |
| umls:C0919267 | ovarian neoplasm | 2 | BeFree,LHGDN |
| umls:C0006145 | Breast Diseases | 1 | BeFree |
| umls:C0007103 | Malignant neoplasm of endometrium | 1 | BeFree |
| umls:C0007131 | Non-Small Cell Lung Carcinoma | 1 | BeFree |
| umls:C0007137 | Squamous cell carcinoma | 1 | BeFree |
| umls:C0008497 | Choriocarcinoma | 1 | BeFree |
| umls:C0009404 | Colorectal Neoplasms | 1 | BeFree,CTD_human |
| umls:C0013080 | Down Syndrome | 1 | BeFree |
| umls:C0014130 | Endocrine System Diseases | 1 | BeFree |
| umls:C0014175 | Endometriosis | 1 | BeFree |
| umls:C0018021 | Goiter | 1 | BeFree |
| umls:C0018213 | Graves Disease | 1 | BeFree |
| umls:C0020550 | Hyperthyroidism | 1 | BeFree |
| umls:C0023418 | leukemia | 1 | BeFree |
| umls:C0039101 | synovial sarcoma | 1 | BeFree |
| umls:C0040128 | Thyroid Diseases | 1 | BeFree |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0151468 | Thyroid Gland Follicular Adenoma | 1 | BeFree |
| umls:C0153572 | Malignant Placental Neoplasm | 1 | BeFree |
| umls:C0206633 | Angiomyolipoma | 1 | BeFree |
| umls:C0206704 | Carcinoma, Large Cell | 1 | BeFree |
| umls:C0206754 | Neuroendocrine Tumors | 1 | BeFree |
| umls:C0271829 | Pendred's syndrome | 1 | BeFree |
| umls:C0278987 | Non-small cell lung cancer metastatic | 1 | BeFree |
| umls:C0333497 | Segmental glomerulosclerosis | 1 | BeFree |
| umls:C0342153 | Congenital thyroid hypoplasia | 1 | BeFree |
| umls:C0342158 | Hypothyroidism, Autoimmune | 1 | BeFree |
| umls:C0476089 | Endometrial Carcinoma | 1 | BeFree |
| umls:C0476122 | ovarian serous tumor | 1 | BeFree |
| umls:C0677886 | Epithelial ovarian cancer | 1 | BeFree |
| umls:C0879615 | Stromal Neoplasm | 1 | BeFree |
| umls:C1096168 | Chromosome 17 trisomy | 1 | BeFree |
| umls:C1112776 | Thyroid hyperplasia | 1 | BeFree |
| umls:C1335177 | Ovarian Serous Adenocarcinoma | 1 | BeFree |
| umls:C1337011 | Well Differentiated Pancreatic Endocrine Tumor | 1 | BeFree |
| umls:C1337013 | Differentiated Thyroid Gland Carcinoma | 1 | BeFree |
| umls:C1513269 | Microcysts | 1 | BeFree |
| umls:C1562630 | Congenital ectopia | 1 | BeFree |
| umls:C1883486 | Uterine Corpus Cancer | 1 | BeFree |
| umls:C2931367 | Thyroid cancer, follicular | 1 | CTD_human |
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