PAX8 (paired box 8)

Gene

• Entrez ID: 7849
• Gene name: Paired box 8
• Gene symbol: PAX8
• Synonyms (NCBI Gene): PAX-8
• Chromosome: 2
• Chromosome location: 2q14.1
• Summary: This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT513402	hsa-miR-3200-5p	PAR-CLIP	23446348
MIRT513401	hsa-miR-199a-5p	PAR-CLIP	23446348
MIRT513400	hsa-miR-199b-5p	PAR-CLIP	23446348
MIRT513399	hsa-miR-345-5p	PAR-CLIP	23446348
MIRT513398	hsa-miR-8068	PAR-CLIP	23446348
MIRT450435	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT450434	hsa-miR-1252-5p	PAR-CLIP	22100165
MIRT450433	hsa-miR-1180-5p	PAR-CLIP	22100165
MIRT450432	hsa-miR-7114-3p	PAR-CLIP	22100165
MIRT513402	hsa-miR-3200-5p	PAR-CLIP	23446348
MIRT513401	hsa-miR-199a-5p	PAR-CLIP	23446348
MIRT513400	hsa-miR-199b-5p	PAR-CLIP	23446348
MIRT513399	hsa-miR-345-5p	PAR-CLIP	23446348
MIRT513398	hsa-miR-8068	PAR-CLIP	23446348
MIRT450435	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT450434	hsa-miR-1252-5p	PAR-CLIP	22100165
MIRT450433	hsa-miR-1180-5p	PAR-CLIP	22100165
MIRT450432	hsa-miR-7114-3p	PAR-CLIP	22100165
MIRT1215470	hsa-miR-1233	CLIP-seq
MIRT1215471	hsa-miR-1238	CLIP-seq
MIRT1215472	hsa-miR-1321	CLIP-seq
MIRT1215473	hsa-miR-1343	CLIP-seq
MIRT1215474	hsa-miR-1976	CLIP-seq
MIRT1215475	hsa-miR-2117	CLIP-seq
MIRT1215476	hsa-miR-23a	CLIP-seq
MIRT1215477	hsa-miR-23b	CLIP-seq
MIRT1215478	hsa-miR-23c	CLIP-seq
MIRT1215479	hsa-miR-3074-5p	CLIP-seq
MIRT1215480	hsa-miR-3124-3p	CLIP-seq
MIRT1215481	hsa-miR-3162-5p	CLIP-seq
MIRT1215482	hsa-miR-3199	CLIP-seq
MIRT1215483	hsa-miR-330-3p	CLIP-seq
MIRT1215484	hsa-miR-33a	CLIP-seq
MIRT1215485	hsa-miR-33b	CLIP-seq
MIRT1215486	hsa-miR-3622b-5p	CLIP-seq
MIRT1215487	hsa-miR-380	CLIP-seq
MIRT1215488	hsa-miR-4257	CLIP-seq
MIRT1215489	hsa-miR-4291	CLIP-seq
MIRT1215490	hsa-miR-4292	CLIP-seq
MIRT1215491	hsa-miR-4308	CLIP-seq
MIRT1215492	hsa-miR-4310	CLIP-seq
MIRT1215493	hsa-miR-4328	CLIP-seq
MIRT1215494	hsa-miR-4446-5p	CLIP-seq
MIRT1215495	hsa-miR-4495	CLIP-seq
MIRT1215496	hsa-miR-4659a-3p	CLIP-seq
MIRT1215497	hsa-miR-4659b-3p	CLIP-seq
MIRT1215498	hsa-miR-4687-5p	CLIP-seq
MIRT1215499	hsa-miR-4713-3p	CLIP-seq
MIRT1215500	hsa-miR-4731-3p	CLIP-seq
MIRT1215501	hsa-miR-4739	CLIP-seq
MIRT1215502	hsa-miR-4753-3p	CLIP-seq
MIRT1215503	hsa-miR-4755-5p	CLIP-seq
MIRT1215504	hsa-miR-4756-5p	CLIP-seq
MIRT1215505	hsa-miR-4778-3p	CLIP-seq
MIRT1215506	hsa-miR-4801	CLIP-seq
MIRT1215507	hsa-miR-511	CLIP-seq
MIRT1215508	hsa-miR-607	CLIP-seq
MIRT1215509	hsa-miR-670	CLIP-seq
MIRT1215470	hsa-miR-1233	CLIP-seq
MIRT1215472	hsa-miR-1321	CLIP-seq
MIRT1215481	hsa-miR-3162-5p	CLIP-seq
MIRT1215488	hsa-miR-4257	CLIP-seq
MIRT1215498	hsa-miR-4687-5p	CLIP-seq
MIRT1215499	hsa-miR-4713-3p	CLIP-seq
MIRT1215501	hsa-miR-4739	CLIP-seq
MIRT1215504	hsa-miR-4756-5p	CLIP-seq
MIRT2062000	hsa-miR-1207-5p	CLIP-seq
MIRT2062001	hsa-miR-1293	CLIP-seq
MIRT2062002	hsa-miR-1305	CLIP-seq
MIRT1215472	hsa-miR-1321	CLIP-seq
MIRT2062003	hsa-miR-28-5p	CLIP-seq
MIRT2062004	hsa-miR-3139	CLIP-seq
MIRT1215483	hsa-miR-330-3p	CLIP-seq
MIRT2062005	hsa-miR-3679-3p	CLIP-seq
MIRT1215490	hsa-miR-4292	CLIP-seq
MIRT1215491	hsa-miR-4308	CLIP-seq
MIRT2062006	hsa-miR-4459	CLIP-seq
MIRT2062007	hsa-miR-4476	CLIP-seq
MIRT2062008	hsa-miR-4483	CLIP-seq
MIRT2062009	hsa-miR-4505	CLIP-seq
MIRT1215496	hsa-miR-4659a-3p	CLIP-seq
MIRT1215497	hsa-miR-4659b-3p	CLIP-seq
MIRT2062010	hsa-miR-4667-5p	CLIP-seq
MIRT2062011	hsa-miR-4700-5p	CLIP-seq
MIRT2062012	hsa-miR-4722-5p	CLIP-seq
MIRT2062013	hsa-miR-4731-5p	CLIP-seq
MIRT2062014	hsa-miR-4736	CLIP-seq
MIRT1215501	hsa-miR-4739	CLIP-seq
MIRT1215504	hsa-miR-4756-5p	CLIP-seq
MIRT2062015	hsa-miR-4763-3p	CLIP-seq
MIRT2062016	hsa-miR-4779	CLIP-seq
MIRT1215508	hsa-miR-607	CLIP-seq
MIRT2062017	hsa-miR-637	CLIP-seq
MIRT2062018	hsa-miR-665	CLIP-seq
MIRT2062019	hsa-miR-708	CLIP-seq
MIRT2062020	hsa-miR-873	CLIP-seq
MIRT1215470	hsa-miR-1233	CLIP-seq
MIRT1215472	hsa-miR-1321	CLIP-seq
MIRT2290498	hsa-miR-1913	CLIP-seq
MIRT2290499	hsa-miR-3126-5p	CLIP-seq
MIRT1215481	hsa-miR-3162-5p	CLIP-seq
MIRT2290500	hsa-miR-324-3p	CLIP-seq
MIRT2290501	hsa-miR-3689d	CLIP-seq
MIRT2290502	hsa-miR-3929	CLIP-seq
MIRT2290503	hsa-miR-4419a	CLIP-seq
MIRT2290504	hsa-miR-4419b	CLIP-seq
MIRT2290505	hsa-miR-4478	CLIP-seq
MIRT2290506	hsa-miR-4510	CLIP-seq
MIRT1215498	hsa-miR-4687-5p	CLIP-seq
MIRT1215499	hsa-miR-4713-3p	CLIP-seq
MIRT1215501	hsa-miR-4739	CLIP-seq
MIRT1215504	hsa-miR-4756-5p	CLIP-seq
MIRT2290507	hsa-miR-485-5p	CLIP-seq
MIRT2392172	hsa-miR-4287	CLIP-seq
MIRT2392173	hsa-miR-4469	CLIP-seq
MIRT2062010	hsa-miR-4667-5p	CLIP-seq
MIRT2392174	hsa-miR-4685-3p	CLIP-seq
MIRT2062011	hsa-miR-4700-5p	CLIP-seq
MIRT2392175	hsa-miR-4768-5p	CLIP-seq
MIRT2392176	hsa-miR-491-3p	CLIP-seq
MIRT2392177	hsa-miR-942	CLIP-seq
MIRT2588517	hsa-miR-1182	CLIP-seq
MIRT2588518	hsa-miR-219-1-3p	CLIP-seq
MIRT2588519	hsa-miR-323b-5p	CLIP-seq
MIRT2588520	hsa-miR-3978	CLIP-seq
MIRT2588521	hsa-miR-571	CLIP-seq
MIRT2588517	hsa-miR-1182	CLIP-seq
MIRT2588518	hsa-miR-219-1-3p	CLIP-seq
MIRT2588519	hsa-miR-323b-5p	CLIP-seq
MIRT2588520	hsa-miR-3978	CLIP-seq
MIRT2588521	hsa-miR-571	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EZH2	Unknown	21289264

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	15356023
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	9388203
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001655	Process	Urogenital system development	IEA
GO:0001655	Process	Urogenital system development	ISS
GO:0001656	Process	Metanephros development	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEP	1337742
GO:0001822	Process	Kidney development	IEP	15494458
GO:0001823	Process	Mesonephros development	IEA
GO:0001823	Process	Mesonephros development	ISS
GO:0003281	Process	Ventricular septum development	IEA
GO:0003337	Process	Mesenchymal to epithelial transition involved in metanephros morphogenesis	IEP	8861958
GO:0003677	Function	DNA binding	IDA	8861958, 15961562
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	IMP	9590296
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9388203, 9590296
GO:0003700	Function	DNA-binding transcription factor activity	TAS	10377248
GO:0004996	Function	Thyroid-stimulating hormone receptor activity	TAS	9590296
GO:0005515	Function	Protein binding	IPI	19010321, 20195357, 32296183
GO:0005634	Component	Nucleus	IDA	9388203, 15961562, 21317881
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	ISS
GO:0006351	Process	DNA-templated transcription	IDA	9590296
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	IBA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	IEP	15494458
GO:0007423	Process	Sensory organ development	IBA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9590296
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0030878	Process	Thyroid gland development	IEP	1337742, 15494458
GO:0030878	Process	Thyroid gland development	IMP	9590296
GO:0038194	Process	Thyroid-stimulating hormone signaling pathway	IEA
GO:0039003	Process	Pronephric field specification	IEA
GO:0039003	Process	Pronephric field specification	ISS
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042472	Process	Inner ear morphogenesis	ISS
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0042981	Process	Regulation of apoptotic process	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	8413205, 8861958, 9388203, 15356023, 15961562
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9388203
GO:0048793	Process	Pronephros development	IEA
GO:0048793	Process	Pronephros development	ISS
GO:0071371	Process	Cellular response to gonadotropin stimulus	IDA	15961562
GO:0071599	Process	Otic vesicle development	IEP	15494458
GO:0072050	Process	S-shaped body morphogenesis	IEA
GO:0072073	Process	Kidney epithelium development	IEA
GO:0072108	Process	Positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA
GO:0072108	Process	Positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	ISS
GO:0072164	Process	Mesonephric tubule development	IEA
GO:0072207	Process	Metanephric epithelium development	IEP	7856737
GO:0072221	Process	Metanephric distal convoluted tubule development	IEA
GO:0072221	Process	Metanephric distal convoluted tubule development	ISS
GO:0072278	Process	Metanephric comma-shaped body morphogenesis	IEP	1337742
GO:0072284	Process	Metanephric S-shaped body morphogenesis	IEP	1337742
GO:0072289	Process	Metanephric nephron tubule formation	IEA
GO:0072289	Process	Metanephric nephron tubule formation	ISS
GO:0072305	Process	Negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis	IEA
GO:0072305	Process	Negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis	ISS
GO:0072307	Process	Regulation of metanephric nephron tubule epithelial cell differentiation	IEA
GO:0072307	Process	Regulation of metanephric nephron tubule epithelial cell differentiation	ISS
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	IEA
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	ISS
GO:1900212	Process	Negative regulation of mesenchymal cell apoptotic process involved in metanephros development	IEA
GO:1900212	Process	Negative regulation of mesenchymal cell apoptotic process involved in metanephros development	ISS
GO:1900215	Process	Negative regulation of apoptotic process involved in metanephric collecting duct development	IEA
GO:1900215	Process	Negative regulation of apoptotic process involved in metanephric collecting duct development	ISS
GO:1900218	Process	Negative regulation of apoptotic process involved in metanephric nephron tubule development	IEA
GO:1900218	Process	Negative regulation of apoptotic process involved in metanephric nephron tubule development	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000594	Process	Positive regulation of metanephric DCT cell differentiation	IEA
GO:2000594	Process	Positive regulation of metanephric DCT cell differentiation	ISS
GO:2000611	Process	Positive regulation of thyroid hormone generation	IEA
GO:2000611	Process	Positive regulation of thyroid hormone generation	IMP	15356023
GO:2000612	Process	Regulation of thyroid-stimulating hormone secretion	IMP	15356023

Other IDs

• MIM: 167415
• HGNC: 8622
• e!Ensembl: ENSG00000125618

Protein

• UniProt ID: Q06710
• Protein name: Paired box protein Pax-8
• Protein function: Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.
• PDB: 2K27
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00292	PAX	9 → 133		Domain
  PF12403	Pax2_C	337 → 449	Paired-box protein 2 C terminal	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the excretory system, thyroid gland and Wilms tumors.
• Sequence:

  MPHNSIRSGHGGLNQLGGAFVNGRPLPEVVRQRIVDLAHQGVRPCDISRQLRVSHGCVSK
  ILGRYYETGSIRPGVIGGSKPKVATPKVVEKIGDYKRQNPTMFAWEIRDRLLAEGVCDND
  TVPSVSSINRIIRTKVQQPFNLPMDSCVATKSLSPGHTLIPSSAVTPPESPQSDSLGSTY
  SINGLLGIAQPGSDKRKMDDSDQDSCRLSIDSQSSSSGPRKHLRTDAFSQHHLEPLECPF
  ERQHYPEAYASPSHTKGEQGLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVAD
  PHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQAL
  LSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFP
  NSSLLSSPYYYSSTSRPSAPPTTATAFDHL

• Sequence length: 450

Pathways

KEGG:

Thyroid hormone synthesis
Pathways in cancer
Transcriptional misregulation in cancer
Thyroid cancer

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital hypothyroidism	Pathogenic	rs1690970101, rs1691361089, rs1690853952	RCV001270337 RCV001270336 RCV001270341	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypothyroidism, congenital, nongoitrous, 2	Likely pathogenic; Pathogenic	rs2104498488, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs1691154033, rs1690965885, rs761612832	RCV001795825 RCV000014793 RCV000014794 RCV000014795 RCV000014796 RCV000014797 RCV000014798 RCV000014799 RCV000502399 RCV001170073 RCV001170074 RCV005014322	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATHYREOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL INTRAEPITHELIAL NEOPLASIA GRADE 2/3	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF THYROID GLAND	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATROPHY OF THYROID	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOTHYROIDISM DUE TO ABSENCE OF THYROID GLAND	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOTHYROIDISM WITHOUT GOITER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN MUCINOUS ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAX8 POLYMORPHISM	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAX8-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOCELE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR HYDROCELE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER, FOLLICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	31474360		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	23318908, 24628993, 26685087, 27362905, 28199067, 29664741, 31363481, 31567280		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	BEFREE	19963130		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10401674, 12161538, 12519876, 12970322, 16584511, 17123335, 21976720		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	12161538, 12519876, 18670350		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	29863547		★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	26975036		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	23158209		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	10401674, 18502330, 30210064, 30723294		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	12161538, 12970322, 17131411, 21289264, 23598436, 26347145, 31732814		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	35321643	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36658621	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	16728576, 29113220		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17016586, 29241741		★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	33121525	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	26371431		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30358609, 31335489		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Diseases	Breast Diseases	BEFREE	16728575		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21328566, 34972751	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31821746	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	35750423	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid, Goblet Cell	Carcinoma	BEFREE	28463910		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10401674, 10958784, 12161538, 12170088, 12364466, 15362967, 15608688, 16609007, 17123335, 19147628, 21763631, 23933154, 24220311, 24618616, 27225188, 28367736, 28777151, 30258209, 30739164, 31788765		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	18084247, 19525927, 26350056, 28069049, 30210064, 30723294	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28339471, 31915309, 32638211	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	19525927	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17016586, 29241741		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28777151, 30024911, 30389437		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	28103614, 31050342, 38012622	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18084247, 19525927, 20463571, 20679884, 21317881, 22495365, 23194047, 24618616, 24625422, 25315900, 26527083, 28449664, 31431624, 32847623, 33850477, 35676472, 36510186, 37098593, 37511191, 38358216	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	21317881, 26350056	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30210064, 32847623	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33649031	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	30059451	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	30550483, 30739164		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	28777151		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17064757, 24766781, 27259239, 28103614, 28123552, 28199067, 29113220, 29312534, 29367766, 29379162, 29680194, 30096791, 31050342, 31832016		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	30739164		★☆☆☆☆ Found in Text Mining only
Cerebellar hemangioblastoma	Cerebellar hemangioblastoma	BEFREE	29629948		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	28954305		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27175788, 27225188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	27175788, 27225188		★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	29863547		★☆☆☆☆ Found in Text Mining only
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	BEFREE	28954305		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	15961562		★☆☆☆☆ Found in Text Mining only
Clear cell sarcoma of kidney	Sarcoma Of Kidney	BEFREE	28426529		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	31440470		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	26075790		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	26075790		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	26075790		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26075790, 35979157	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24357248		★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	10377248, 11232006, 11502839, 15301052, 15356023, 15718293, 15863666, 16763387, 17437516, 17468187, 17980011, 18294054, 20157192, 20718765, 21976720, 22898500, 23647375, 24499175, 25146893, 25214233, 25720050, 26362610, 26495924, 27207603, 28060725, 28215547, 30730849, 30888984, 9590296		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	10377248, 25146893, 27207603, 28060725, 33434492, 34234053, 35611983, 36614229, 40362701	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	LHGDN	17437516		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	GENOMICS_ENGLAND_DG	9590296		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Mesoblastic Nephroma	Congenital Mesoblastic Nephroma	BEFREE	27020209		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20679884, 21097529, 23957913, 24618616, 26975036, 28374447, 28473526, 28765116, 31431624		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	17064757		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	26350056	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31518338		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31518338		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18840782	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated thyroid carcinoma	Thyroid Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	24405857, 24510380, 31732814		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	24499175		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	31621494		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	17082261		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22644304, 27362905, 30739164		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	22644304, 36281161, 40138919	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26132201	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32847623	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	17140576, 30764713		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	17140576, 35387670	Associate	★☆☆☆☆ Found in Text Mining only
Epididymitis	Epididymitis	BEFREE	29241741		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	17064757, 27259239, 28103614, 28199067, 29113220, 29312534, 31050342		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	30764713		★☆☆☆☆ Found in Text Mining only
Fibrolamellar Hepatocellular Carcinoma	Hepatocellular Carcinoma	BEFREE	31474360		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	24154691		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	12170088, 15256783, 15362967, 15483076, 21763631, 26370671, 8062273		★☆☆☆☆ Found in Text Mining only
Follicular Cyst	Follicular cyst	Pubtator	30210064	Associate	★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	11511919, 12161538, 12519876, 12727991, 12866375, 12970322, 14713269, 15077183, 15238980, 15256783, 15362967, 15483076, 15608688, 15972966, 16352687, 16609007, 16946003, 17956956, 19797117, 19883731, 19963130, 20056739, 20427420, 21763631, 21798995, 22895275, 23025542, 23598436, 23738683, 24510380, 24798894, 25069464, 25708358, 25999051, 26649796, 27797226, 28008156, 28621837		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	31239549	Associate	★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	27821020		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24602166	Associate	★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	38358216	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	19525927, 26350056	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10365677, 16187907		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	29629948		★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	35321643	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	24220311	Associate	★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	20427420, 31518338		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	17082261, 17437516, 17468187, 20302910, 25146893, 29159607, 30283736, 30397221, 31518338, 31731040		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	LHGDN	17468187		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	25146893, 29650690, 36593237	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS	Congenital Hypothyroidism	UNIPROT_DG	11232006, 11502839, 9590296		★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS	Congenital Hypothyroidism	GENOMICS_ENGLAND_DG	11232006, 9590296		★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS	Congenital Hypothyroidism	BEFREE	30888984		★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS	Congenital Hypothyroidism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS	Congenital Hypothyroidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	30720061	Associate	★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	21932072		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	30237523		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29632300		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	21204715, 28942293		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	19525927, 23194047, 25315900, 27910947, 35676472, 37938323	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	14531904		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	28749793		★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	28749793		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19963130, 28339471, 31391550		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31391550		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30024911	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	21317881, 22037256	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	29846633		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	26729015, 28123552, 28877056, 29048219, 29241740		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30024911, 30358609, 31335489		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22644304		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	21097529		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31518338		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30024911, 30389437		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17064757, 21746896, 24766781, 27259239, 28123552, 29367766, 29379162, 29680194, 30096791, 31832016		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30639194		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30021604		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	10810302, 11325833, 15650356, 15785241, 18502330, 19147628, 20578236, 21833035, 21878896, 22510021, 22984796, 23060067, 24811481, 26259532, 27249794, 28008156, 29420754, 30760304		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17016586, 29241741		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12970322, 21763631, 23837487, 26030152, 26347145, 26370671, 27175788, 27225188, 27362905, 28621837, 28765116, 29113220, 29241740, 30096791, 30565896, 30636633, 31050342		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	29863547		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27175788, 27225188		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	18502330		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	10401674, 18502330		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29362489		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	28877056, 29048219		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	32429658	Associate	★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	28367736		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10362145, 12970322, 1337742, 15362967, 15608688, 16814811, 17016586, 18502330, 20089614, 20564403, 21763631, 21833035, 22498723, 22644304, 22705448, 23436219, 23598436, 23738683, 24766781, 26075790, 26337721, 26347145, 26371431, 26797858, 27129161, 27175788, 27362905, 27597522, 27631338, 27733182, 27797226, 28367736, 28463910, 28604461, 28675457, 28749793, 28765116, 28873352, 28877071, 29052596, 29194708, 29241740, 30021604, 30075157, 30358609, 30720110, 31591497, 7737192, 7909843, 9288908		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	14531904, 15961562, 16814811, 28426529, 30449229, 30558081, 7856737, 7909843, 8178926, 8861958, 9388203		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	21932072, 25710581		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24628993		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	27259239, 28123552, 29367766, 29379162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Cysts	Ovarian cysts	Pubtator	18084247, 32847623	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	23529305	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Mucinous Adenocarcinoma	Ovarian adenocarcinoma	GWASCAT_DG	26075790		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	17064757, 24766781, 29680194, 30096791, 31832016		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	17064757		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12960427, 18084247, 19238079, 20132413, 20572292, 21746896, 22705448, 23368871, 23529305, 24342438, 25473747, 26079312, 27259239, 28103614, 30024911, 31050342, 32332753, 33121525, 33737539, 35055018, 35387670, 35405716	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	22705448, 28877056		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30639194, 31391063		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20890270	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21328566	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	21328566	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	23219441		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	ORPHANET_DG	10958784, 17891228, 25069464, 25708358		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	11325833, 12161538, 12170088, 12866375, 15238980, 15650356, 16187907, 20564403, 22895275, 22961909, 23025542, 23436219, 23738683, 23966419, 23993207, 24086368, 24327398, 24510380, 24798894, 25069464, 26282166, 26370671, 26649796, 27249794, 27250077, 28301608, 29632436, 30720110, 31653481		★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	33399341	Associate	★☆☆☆☆ Found in Text Mining only
Perivascular Epithelioid Cell Neoplasms	Perivascular Epithelioid Neoplasms	BEFREE	31408245		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	30216339		★☆☆☆☆ Found in Text Mining only
Protoporphyria Erythropoietic	Erythropoietic protoporphyria	Pubtator	40138919	Stimulate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	21097529		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20679884, 23158209, 23957913, 24618616, 26975036, 30389437, 31431624		★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	BEFREE	28873352		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	28749793		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	24771139	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	20564403		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	26350056	Associate	★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28749793		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	18084247, 22495365	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	31621494		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	19139719		★☆☆☆☆ Found in Text Mining only
Solitary fibrous tumor	Solitary fibrous tumor	BEFREE	26337721, 28749793		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24628993, 27362905, 30210064, 30756420		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30021604		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31353958, 31881968	Associate	★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	25146893		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	21836481, 28426529, 30789354		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	30059451		★☆☆☆☆ Found in Text Mining only
Thyroid Agenesis	Thyroid Agenesis	BEFREE	28455095		★☆☆☆☆ Found in Text Mining only
Thyroid Agenesis	Thyroid Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	15256783, 20056739	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	20564403, 20731005, 21317881, 23025542, 23436219, 24086368, 24327398, 24798894, 36705380	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	CTD_human_DG	15785241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, follicular	Thyroid cancer	BEFREE	19883731, 21763631, 23598436, 27797226		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10810302, 10958784, 11325833, 15650356, 15785241, 18502330, 19147628, 20578236, 21833035, 21878896, 22498723, 22510021, 22984796, 23060067, 23738683, 24086368, 24811481, 25069464, 26259532, 27249794, 27573549, 27856756, 28008156, 29373711, 29420754, 30210064, 30760304, 31653481, 9854590		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	16029487, 23806007, 34751390	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	17437516, 26030152		★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	BEFREE	10102047, 10637573, 10895037, 15301052, 15356023, 15718293, 15845640, 16763387, 17980011, 19542741, 20302910, 20718765, 20857061, 21450989, 23308388, 25214233, 26495924, 28060725, 28455095, 30240412, 31432505, 9590296		★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	LHGDN	18976153		★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	GENOMICS_ENGLAND_DG	9590296		★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 1	Thyroid dyshormonogenesis	Pubtator	32765423	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	15238980, 15256783, 22961909		★☆☆☆☆ Found in Text Mining only
Thyroid hemiagenesis	Thyroid hemiagenesis	BEFREE	15845640, 24340305		★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	BEFREE	27821020		★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	BEFREE	11232006, 11502839, 15356023, 16189712, 16763387, 17082261, 17433800, 20157192, 20718765, 24499175, 25146893		★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	ORPHANET_DG	11232006, 11502839, 25146893		★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	GENOMICS_ENGLAND_DG	9590296		★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10810302, 11325833, 12170088, 12519876, 12727991, 15362967, 15608688, 15650356, 15972966, 17123335, 18502330, 19147628, 19772429, 19963130, 21833035, 21878896, 21932072, 22179975, 22510021, 22984796, 23060067, 23100233, 24811481, 26259532, 26370671, 27249794, 28008156, 30760304, 31273314, 8062273		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	16029487, 16219715, 16352687		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	15238980, 16029487, 23436219, 24086368, 24510380, 24798894, 26259532, 26695504, 27856756, 29373711, 29923329, 30210064, 32781560, 35292786, 35397361, 38277563, 9854590	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	24798894, 26370671		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	25146893, 27207603, 29469940, 32096550	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	28069049, 30550483		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35154515	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	31669177		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33794208, 36929174	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	26910219	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	18084247, 32507920	Associate	★☆☆☆☆ Found in Text Mining only