TSHR (thyroid stimulating hormone receptor)

Gene

• Entrez ID: 7253
• Gene name: Thyroid stimulating hormone receptor
• Gene symbol: TSHR
• Synonyms (NCBI Gene): CHNG1, LGR3, hTSHR-I
• Chromosome: 14
• Chromosome location: 14q31.1
• Summary: The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a c

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017856	hsa-miR-335-5p	Microarray	18185580
MIRT023731	hsa-miR-1-3p	Microarray	18668037
MIRT025045	hsa-miR-181a-5p	Microarray	17612493
MIRT1458698	hsa-miR-1270	CLIP-seq
MIRT1458699	hsa-miR-1286	CLIP-seq
MIRT1458700	hsa-miR-214	CLIP-seq
MIRT1458701	hsa-miR-224	CLIP-seq
MIRT1458702	hsa-miR-28-3p	CLIP-seq
MIRT1458703	hsa-miR-3619-5p	CLIP-seq
MIRT1458704	hsa-miR-4282	CLIP-seq
MIRT1458705	hsa-miR-4291	CLIP-seq
MIRT1458706	hsa-miR-432	CLIP-seq
MIRT1458707	hsa-miR-433	CLIP-seq
MIRT1458708	hsa-miR-4424	CLIP-seq
MIRT1458709	hsa-miR-4531	CLIP-seq
MIRT1458710	hsa-miR-4690-5p	CLIP-seq
MIRT1458711	hsa-miR-4711-3p	CLIP-seq
MIRT1458712	hsa-miR-4759	CLIP-seq
MIRT1458713	hsa-miR-620	CLIP-seq
MIRT1458714	hsa-miR-645	CLIP-seq
MIRT1458715	hsa-miR-761	CLIP-seq
MIRT1458716	hsa-miR-922	CLIP-seq
MIRT1458700	hsa-miR-214	CLIP-seq
MIRT1458703	hsa-miR-3619-5p	CLIP-seq
MIRT1458715	hsa-miR-761	CLIP-seq
MIRT1458700	hsa-miR-214	CLIP-seq
MIRT1458703	hsa-miR-3619-5p	CLIP-seq
MIRT2358483	hsa-miR-4280	CLIP-seq
MIRT1458705	hsa-miR-4291	CLIP-seq
MIRT1458712	hsa-miR-4759	CLIP-seq
MIRT1458715	hsa-miR-761	CLIP-seq
MIRT1458716	hsa-miR-922	CLIP-seq
MIRT2396408	hsa-miR-3545-3p	CLIP-seq
MIRT2462473	hsa-miR-203	CLIP-seq
MIRT2462474	hsa-miR-3145-3p	CLIP-seq
MIRT2462475	hsa-miR-3689a-5p	CLIP-seq
MIRT2462476	hsa-miR-3689b	CLIP-seq
MIRT2462477	hsa-miR-3689e	CLIP-seq
MIRT2462478	hsa-miR-3689f	CLIP-seq
MIRT2462479	hsa-miR-576-3p	CLIP-seq
MIRT1458701	hsa-miR-224	CLIP-seq
MIRT1458707	hsa-miR-433	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PAX8	Repression	17614769
PPARG	Repression	17614769

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004996	Function	Thyroid-stimulating hormone receptor activity	IBA
GO:0004996	Function	Thyroid-stimulating hormone receptor activity	IEA
GO:0004996	Function	Thyroid-stimulating hormone receptor activity	IMP	11847099
GO:0004996	Function	Thyroid-stimulating hormone receptor activity	TAS	8552586
GO:0005515	Function	Protein binding	IPI	15775968, 28298427, 35512704
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11847099
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8552586
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IMP	12045258
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	8552586
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	8552586
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	12045258
GO:0007267	Process	Cell-cell signaling	TAS	7920658
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	7920658
GO:0008528	Function	G protein-coupled peptide receptor activity	IBA
GO:0009725	Process	Response to hormone	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IBA
GO:0009986	Component	Cell surface	ISS
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	11847099
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016500	Function	Protein-hormone receptor activity	IEA
GO:0038023	Function	Signaling receptor activity	IMP	12045258
GO:0038194	Process	Thyroid-stimulating hormone signaling pathway	IMP	11847099
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0044877	Function	Protein-containing complex binding	IDA	12045258
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	18559984
GO:1904588	Process	Cellular response to glycoprotein	IMP	12045258
GO:1905229	Process	Cellular response to thyrotropin-releasing hormone	IMP	11847099

Other IDs

• MIM: 603372
• HGNC: 12373
• e!Ensembl: ENSG00000165409

Protein

• UniProt ID: P16473
• Protein name: Thyrotropin receptor (Thyroid-stimulating hormone receptor) (TSH-R)
• Protein function: Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin (PubMed:11847099, PubMed:12045258). Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin (PubMed:12045258). The activity of this recep
• PDB: 2XWT, 3G04, 7T9I, 7T9M, 7T9N, 7UTZ, 7XW5, 7XW6, 7XW7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13306	LRR_5	53 → 143	BspA type Leucine rich repeat region (6 copies)	Repeat
  PF00001	7tm_1	431 → 678	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in thyroide cells (at protein level) (PubMed:11847099). Expressed in the thyroid (PubMed:2610690). {ECO:0000269|PubMed:11847099, ECO:0000269|PubMed:2610690}.
• Sequence:

  MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPPSTQTLKLI
  ETHLRTIPSHAFSNLPNISRIYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPD
  ALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITDNPYMTSIPVNAFQGLCNETL
  TLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLDVSQTSVTA
  LPSKGLEHLKELIARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLM
  CNESSMQSLRQRKSVNALNSPLHQEYEENLGDSIVGYKEKSKFQDTHNNAHYYVFFEEQE
  DEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTPKSDEFNPCEDIMGYKFLRIV
  VWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSE
  YYNHAIDWQTGPGCNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACA
  IMVGGWVCCFLLALLPLVGISSYAKVSICLPMDTETPLALAYIVFVLTLNIVAFVIVCCC
  YVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPISFYALSAILNKPLITVSNSK
  ILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQ
  VQKVTHDMRQGLHNMEDVYELIENSHLTPKKQGQISEEYMQTVL

• Sequence length: 764

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Thyroid hormone synthesis
Regulation of lipolysis in adipocytes
Autoimmune thyroid disease

Reactome:

Hormone ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production

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	Likely pathogenic; Pathogenic	rs121908866, rs189261858	RCV006439562 RCV000826152	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial gestational hyperthyroidism	Likely pathogenic; Pathogenic	rs761918916, rs121908863, rs121908865, rs121908866, rs121908871, rs121908872, rs121908879, rs189261858, rs774078708, rs1330247874, rs1320718774, rs760874290, rs1064794318, rs1085307573, rs780018604	RCV002476874 RCV002490329 RCV005007829 RCV005007830 RCV002490330 RCV005007831 RCV000006824 RCV003225722 RCV003153136 RCV005013256 RCV005013268 RCV004567857 RCV005010391 RCV002481552 RCV005012572	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hyperthyroidism due to mutations in TSH receptor	Likely pathogenic; Pathogenic	rs761918916, rs121908861, rs121908863, rs121908864, rs121908865, rs121908866, rs121908871, rs121908872, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs189261858, rs2140113373, rs1330247874, rs1320718774, rs760874290, rs1064794318, rs1085307573, rs780018604	RCV002476874 RCV000006802 RCV002490329 RCV000006806 RCV005007829 RCV005007830 RCV002490330 RCV005007831 RCV000006818 RCV000006819 RCV000006820 RCV000006821 RCV000006823 RCV000006825 RCV000006828 RCV005008151 RCV003314474 RCV003444185 RCV005013256 RCV005013268 RCV005010273 RCV005010391 RCV002481552 RCV005012572	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypothyroidism due to TSH receptor mutations	Likely pathogenic; Pathogenic	rs2140111252, rs761918916, rs2140112570, rs786204790, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs189261858, rs565082329, rs756468029, rs765367813, rs756016910, rs2503950061, rs1330247874, rs1320718774, rs760874290, rs1291324306, rs1064794318, rs1085307573, rs780018604, rs1888838395, rs767239688	RCV005408864 RCV002274197 RCV002251066 RCV000169681 RCV000006804 RCV000006805 RCV000006808 RCV000006809 RCV000006810 RCV000006813 RCV000006814 RCV000006815 RCV000006817 RCV000006826 RCV000006829 RCV000006830 RCV000006832 RCV000490528 RCV003314197 RCV003447746 RCV003479551 RCV004801371 RCV004783080 RCV005013256 RCV005013268 RCV005010273 RCV004527094 RCV005010391 RCV002481552 RCV001118351 RCV001175132 RCV001175135	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian cancer	Likely pathogenic; Pathogenic	rs189261858, rs1888829999, rs1891818053, rs2503498523, rs772600260, rs760874290	RCV003153491 RCV003154761 RCV003154762 RCV003154763 RCV003154791 RCV003153557	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic	rs767239688	RCV005908905	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Smith-Lemli-Opitz syndrome	Pathogenic	rs1291324306	RCV004544218	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid adenoma, hyperfunctioning, somatic	Pathogenic	rs121908859, rs121908860, rs121908861, rs121908873, rs121908877	RCV000006800 RCV000006801 RCV000006803 RCV000006816 RCV000006822	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC	Pathogenic	rs28937584	RCV000006807	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TSHR-related disorder	Likely pathogenic; Pathogenic	rs121908866, rs121908872, rs2503608613, rs1206511483, rs760874290, rs1064794318	RCV004528087 RCV004532302 RCV004528621 RCV004542292 RCV003335304 RCV004541520	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTIPHOSPHOLIPID SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHYREOSIS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
autistic features	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROIDITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY AND EPISPADIAS COMPLEX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder exstrophy-epispadias-cloacal extrophy complex	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ 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
CONGESTIVE OPHTHALMOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental delay	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves disease, susceptibility to, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES OPHTHALMOPATHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTHYROIDISM, FAMILIAL GESTATIONAL	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM, NONAUTOIMMUNE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHATIC METASTASIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHIC OPHTHALMOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY HYPERTHYROIDISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMOOTH SURFACE DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROIDITIS, AUTOIMMUNE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	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 Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	16890892, 29976201		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	22842620		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	BEFREE	10037070		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10487692, 10595453, 10650954, 11127522, 11375794, 12039695, 12665646, 12804102, 14514342, 17381350, 19383781, 19492584, 22815044, 7566968, 7673402, 7714109, 8045989, 8626855, 8636365, 9225730, 9266964, 9467574, 9519872, 9709907, 9710366, 9867188		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	CTD_human_DG	8413627		★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	CTD_human_DG	8413627		★☆☆☆☆ Found in Text Mining only
Adenoma, Microcystic	Adenoma	CTD_human_DG	8413627		★☆☆☆☆ Found in Text Mining only
Adenoma, Monomorphic	Adenoma	CTD_human_DG	8413627		★☆☆☆☆ Found in Text Mining only
Adenoma, Trabecular	Adenoma	CTD_human_DG	8413627		★☆☆☆☆ Found in Text Mining only
Adrenal Cancer	Adrenal Cancer	CTD_human_DG	19131502		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	CTD_human_DG	19131502		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	11598856, 12429043, 1761161, 22898315		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	1761161, 18502330, 9001192		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	9062474		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	10646883, 8157713, 8892315		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	GWASCAT_DG	28424481		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	10319947, 24968734, 30283735		★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	16890892		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	27498835		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10052680, 11129119, 11344244, 12574393, 12646613, 16365463, 16595602, 20083159, 20464711, 21070207, 21318483, 21956421, 22434518, 22938935, 23386414, 24029729, 25122677, 26361261, 26787873, 27810496, 29325864, 29363585, 29531156, 30372544, 30843179, 30944161, 31379878, 31407208, 8796147, 8981019, 9001188, 9293160, 9354857, 9427897, 9640411		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	22517745	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	CTD_human_DG	17952073		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	7986390, 8103769, 8104016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Neoplasm	Benign Neoplasm	BEFREE	8222289		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	31197680		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29976206		★☆☆☆☆ Found in Text Mining only
C-cell hyperplasia of thyroid	Thyroid Hyperplasia	BEFREE	18502330		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26323637	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11041453, 12107237, 1996981, 7999049, 8222289, 9467574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	CTD_human_DG	9062474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Small Cell	Small cell carcinoma	Pubtator	23844610	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	9062474		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	8796147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	9409648	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	27498835		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28533776		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28675510	Associate	★☆☆☆☆ Found in Text Mining only
Compensated hypothyroidism	Compensated hypothyroidism	BEFREE	14725684, 17526952		★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	24945425		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	10102047, 10447022, 10698593, 10720030, 10895037, 12629076, 12786749, 14725684, 15163335, 15863666, 16060907, 16320156, 17199441, 18294054, 18379122, 18727713, 19158199, 19820021, 20718767, 21186955, 21707688, 21714466, 21714469, 22405933, 22876533, 23154162, 24690939, 24859513, 24945425, 25153578, 25557138, 25916430, 25928756, 25978107, 26709262, 26864598, 27525530, 27637299, 28215547, 28455095, 28561265, 29507327, 29546359, 31356790, 8981017, 8981018, 9048917, 9185526, 9329388		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	CLINVAR_DG	11442002, 15693879, 17526952, 19158199, 19506388, 21677043, 21707688, 21714469, 22405933, 23404215, 23926367, 24895636, 26709262, 27084275, 27637299, 28444304, 28455095		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	LHGDN	11716047, 18379122		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	CTD_human_DG	12629076		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	18379122, 25146893, 25557138, 26709262, 27255745, 27525530, 34200080, 34234053, 36468928, 36913313, 37346832, 37561783, 40362701, 40391015, 9185526	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	GENOMICS_ENGLAND_DG	27525530		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dental caries of smooth surface	Dental caries	GWASCAT_DG	24556642		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	7509671, 9086563		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29984235		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11174830		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	10342361, 12107237, 1420806, 15170676, 16091757, 17118994, 18759693, 19015922, 20881771, 22898315, 22989469, 26212344, 28036261, 28351942, 29344196, 29771756, 29845889, 9438142		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	10052680, 12568121, 15542454, 17550957, 20039900, 20464711, 27819113, 29890310, 7902362, 8268237, 8796147, 9001189		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	LHGDN	12790806		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10210286, 14759073		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	29507327		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endemic Cretinism	Endemic Cretinism	CTD_human_DG	12629076		★☆☆☆☆ Found in Text Mining only
Endemic Cretinism	Endemic Cretinism	BEFREE	15911145		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	36152376	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa pretibial	Junctional epidermolysis bullosa	Pubtator	7508946	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex Ogna type	Epidermolysis bullosa	Pubtator	28675510	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31133960		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Exophthalmos	Proptosis	BEFREE	24128430, 30626069, 30671256		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial gestational hyperthyroidism	Hyperthyroidism Gestational	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hyperthyroidism due to mutations in TSH receptor	Hyperthyroidism	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Testotoxicosis	Testotoxicosis	BEFREE	26407873		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	10566665, 19499991, 28612287, 9467574		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	CTD_human_DG	8413627		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	11128715, 14713269, 16091757, 20427420, 22898315, 23618770, 8923835, 9426438		★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	12050212, 14725684, 16060907, 16756469, 19820021, 20515734, 21186955, 21677043, 22049173, 22460197, 23154162, 23332130, 27821020, 28561265		★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	GENOMICS_ENGLAND_DG	27525530		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	34115025	Associate	★☆☆☆☆ Found in Text Mining only
Glucocorticoid deficiency with achalasia	Glucocorticoid Deficiency With Achalasia	BEFREE	11701718		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10037069, 10067867, 10195700, 10199784, 10319947, 10411114, 10443697, 10487700, 10518798, 10524566, 10540180, 10651846, 10720058, 10874529, 10958310, 11001797, 11101869, 11127522, 11129118, 11134119, 11201847, 11238522, 11344244, 11416017, 11549658, 11577986, 11834424, 11884447, 11887032, 11952038, 12122113, 12488353, 12534350, 12574393, 12593721, 12646613, 12679441, 12813025, 1283175, 12930595, 1332945, 1354957, 1358304, 1420806, 14570752, 14576177, 14654252, 14654350, 14669940, 14669945, 14669947, 14671007, 15068623, 15147342, 1515018, 15164996, 15319453, 15542454, 15741259, 15817921, 15827111, 16075037, 16106256, 16127205, 16220002, 16365463, 16410300, 1656957, 16595602, 16698425, 16890892, 1716261, 17199429, 17199432, 17293446, 17823263, 18081880, 18306976, 1850754, 18669595, 18768899, 18778364, 18925838, 1914236, 19244275, 19438904, 19492584, 19530272, 1955520, 1981364, 19914592, 20015465, 20083159, 20138963, 20146171, 20237164, 20300120, 20464711, 20578897, 21070207, 21124799, 21147892, 21642385, 21715431, 21716594, 21830127, 21841780, 21956421, 22014107, 22017306, 22066477, 22434518, 22438231, 22517745, 22663548, 22763653, 22811559, 22938935, 23039881, 23295291, 23386414, 23630351, 23852019, 24029729, 24080368, 24086448, 24144966, 24279482, 24446657, 24517461, 24968734, 25061884, 25122677, 25535130, 25543543, 25801430, 25868387, 25936345, 26293122, 26361261, 26459776, 26787873, 27331310, 27368808, 27456991, 27762730, 27810496, 27822606, 28096798, 28127991, 28295509, 2835260, 28388869, 28421036, 28440200, 28469599, 28536577, 28636775, 28639207, 28713331, 28737965, 28767604, 29033895, 29058307, 29071236, 29137069, 29265783, 29273685, 29363585, 29468987, 29494342, 29526990, 29531156, 29594051, 29605392, 29614339, 29624097, 29771755, 29771756, 29772544, 29801507, 29973096, 29976201, 30092570, 30099489, 30099546, 30133352, 30215690, 30246383, 30265356, 30283735, 30286485, 30289300, 30351224, 30351237, 30356900, 30357776, 30366347, 30372544, 30385883, 30393005, 30396220, 30401900, 30417713, 30426886, 30513035, 30517711, 30544387, 30618332, 30626069, 30649410, 30666231, 30684216, 30753531, 30822352, 30843179, 30944161, 31023276, 31062662, 31088643, 31184281, 31207654, 31217394, 31237525, 31366254, 31379878, 31407208, 31434818, 31453725, 31560118, 31580214, 31602359, 31602361, 31700870, 31789723, 31849168, 6134495, 7488865, 7509671, 7519915, 7530646, 7533773, 7535671, 7556878, 7570041, 7883818, 7901266, 7901757, 7919996, 8045952, 8101586, 8103768, 8136456, 8189073, 8268237, 8408457, 8484862, 8496329, 8626830, 8751142, 8796147, 8816426, 8855789, 8875744, 8936671, 8941638, 8981006, 8981020, 9001188, 9001192, 9002995, 9015347, 9086563, 9086566, 9225723, 9228077, 9354857, 9427897, 9492146, 9623732, 9640411, 9777748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	LHGDN	11814624, 12790806, 12813025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	16617190, 18190611, 18655531, 18832736, 18925838, 1914236, 19897675, 21124799, 22517745, 22673349, 23118423, 2358066, 23852019, 24086448, 24446657, 24517461, 24840811, 25061884, 25122677, 25127106, 25759125, 2577491, 26943356, 28195550, 2835260, 28672775, 28919585, 29093229, 29752312, 29973096, 29987165, 31379878, 31865369, 32342657, 33443352, 33669123, 33912135, 35386700, 7615799, 8136456, 8552586, 9409648	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	CTD_human_DG	1955520, 21841780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	GWASCAT_DG	21841780, 22922229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	GWASDB_DG	21841780, 22922229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	38107520	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	14764816, 15115450, 17122103, 19897675, 20017620, 22399514, 22673349, 23482611, 24517461, 25061884, 25411513, 25485727, 26213859, 31622470, 34412613, 34949642, 36554821, 38107520, 7508946	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	22517745	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto Disease	BEFREE	14570752, 17823263, 19914592, 21830127, 24328419, 25535130, 25868387, 27762730, 28181228, 28636775, 29973096, 30286485, 31197680, 31207654, 7533773, 7986390, 8103769, 8104016, 9225730		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	22673349, 24328419, 29973096, 30624501	Associate	★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19178511, 26407873		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	10037070, 10067867, 10528222, 10958310, 11036883, 11127522, 11128715, 11129118, 11201847, 11517004, 11549658, 11577986, 11716039, 11796491, 11884447, 11923469, 11952038, 12050220, 12240901, 12574393, 12646613, 12813025, 1283175, 14576177, 14671007, 15147342, 15164996, 15817921, 15827111, 16127205, 16135672, 16195404, 16365463, 1656957, 17199432, 1719963, 17550957, 17656602, 17823263, 18025759, 18175146, 18466076, 1850754, 18669595, 18694911, 18821390, 18927213, 19530272, 19914592, 20138963, 20300120, 20407472, 20427420, 20464711, 20501679, 20929407, 21274318, 21318483, 21715431, 21841780, 22763653, 23295291, 23613015, 24029729, 24086448, 24279482, 24480816, 24845969, 25231450, 25801430, 26114856, 26787873, 27766407, 27813690, 27913646, 28025026, 28127991, 28648513, 28737965, 28750432, 29273685, 29381976, 29772544, 29890310, 30107622, 30132406, 30246383, 30351224, 30351237, 30372544, 30468646, 30897565, 30920020, 31194638, 31602361, 31742747, 7509671, 7519915, 7535671, 7920658, 8981019, 9039330, 9225723, 9225730, 9349581, 9427897, 9589634, 9640411		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperthyroidism	Hyperthyroidism	Pubtator	11036883, 16960398, 18025759, 18655531, 18832736, 19191749, 20929407, 21274318, 2358066, 24086448, 25061884, 2577491, 27525921, 30372544, 33443352, 33669123, 36130976, 37876543, 38241561, 8136456, 9294132	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperthyroidism	Hyperthyroidism	LHGDN	12240901, 12813025, 16756474, 17696839, 18025759, 18175146, 18528812		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperthyroidism	Hyperthyroidism	Pubtator	30624501, 35550326	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperthyroidism	Hyperthyroidism	CTD_human_DG	7800007, 8413627, 8964822		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperthyroidism	Hyperthyroidism	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperthyroidism Nonautoimmune	Hyperthyroidism	Pubtator	16960398, 18025759, 20929407, 21274318, 28195550, 9294132	Associate	★☆☆☆☆ Found in Text Mining only
Hyperthyroidism, Familial Gestational	Hyperthyroidism Gestational	UNIPROT_DG	9854118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism, Familial Gestational	Hyperthyroidism Gestational	ORPHANET_DG	9854118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism, Familial Gestational	Hyperthyroidism Gestational	GENOMICS_ENGLAND_DG	9854118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism, Familial Gestational	Hyperthyroidism Gestational	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism, Familial Gestational	Hyperthyroidism Gestational	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism, Nonautoimmune	Hyperthyroidism	BEFREE	10199795, 10482366, 11549687, 15163335, 16187920, 16260895, 16339276, 16756474, 16960398, 17696839, 18025759, 18466076, 20146656, 20501679, 20846293, 20929407, 21190443, 21274318, 22371259, 24279482, 24947036, 8636266, 8981020, 9360555, 9398746, 9867189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism, Nonautoimmune	Hyperthyroidism	UNIPROT_DG	10199795, 10852462, 11081252, 11127522, 11201847, 11517004, 11549687, 15163335, 7800007, 7920658, 8636266, 8964822, 9349581, 9360555, 9398746, 9589634		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism, Nonautoimmune	Hyperthyroidism	ORPHANET_DG	23295291, 24947036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism, Nonautoimmune	Hyperthyroidism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism, Nonautoimmune	Hyperthyroidism	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism, Nonautoimmune	Hyperthyroidism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	BEFREE	10319947, 10524567, 11081251, 11577986, 1283175, 12907760, 15827111, 17823263, 18727713, 18927215, 19506388, 20550534, 21490078, 22916127, 23332130, 25079464, 28469599, 29083325, 29507327, 29973617, 30246383, 30351224, 30398662, 30541519, 30761678, 31541602, 31602359, 7989462, 8100829, 9039330, 9225730, 9329388, 9640411		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	LHGDN	12050212, 17526952, 17697008		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	Pubtator	21490078, 23332130, 25079464, 29973617, 31541602, 32995956, 36130976, 37686882, 38241561, 40391015	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism due to TSH receptor mutations	Hypothyroidism	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	Congenital hypothyroidism, nongoitrous	UNIPROT_DG	10720030, 11095460, 11442002, 12050212, 14725684, 15531543, 25978107, 7528344, 8954020, 9100579, 9185526, 9329388		★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	Congenital hypothyroidism, nongoitrous	CLINVAR_DG	11442002, 12629076, 14725684, 15693879, 19506388, 20718767, 21677043, 21707688, 21714469, 22405933, 22876533, 27255745, 27637299, 8954020, 9100579, 9185526		★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	Congenital hypothyroidism, nongoitrous	BEFREE	12050212, 14725684, 16060907, 16756469, 19820021, 20515734, 21186955, 21677043, 22049173, 23154162, 23332130, 28561265		★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	Congenital hypothyroidism, nongoitrous	ORPHANET_DG	19158199, 20537182		★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	Congenital hypothyroidism, nongoitrous	GENOMICS_ENGLAND_DG	27525530, 9854118		★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	Congenital hypothyroidism, nongoitrous	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism, Congenital, Nongoitrous, 4	Congenital hypothyroidism, nongoitrous	BEFREE	20718767		★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	20977916		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	15911145		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36468928	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	34115025	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29715101		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37885353	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	37885353	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	9062474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	30655754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31658048, 39363900	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic Metastasis	CTD_human_DG	9062474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	22244412		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29976206		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	9062474		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24844218		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	10810302, 12429043, 1420806, 15170676, 15292293, 16946009, 17118994, 17891229, 17940468, 17940470, 18502330, 18631002, 19958935, 20429628, 20881771, 21989446, 22244412, 22984796, 24353283, 24927793, 28036261, 28351942, 28860762, 29344196, 29976206, 30058701, 30160089, 8923835		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11705861, 12665646, 17118994, 17220349, 17600477, 17679169, 17891229, 17940468, 1824338, 18451066, 22842620, 24844218, 26518340, 28493290, 28536577, 28965266, 29088773, 29516685		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	10447021		★☆☆☆☆ 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, 16091757, 18502330, 8157713		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36553569	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	BEFREE	15911145		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	12558129	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	BEFREE	10199795		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multinodular goiter	Multinodular goiter	BEFREE	10852462, 11407651, 19826830, 21830127, 23336574, 9709907		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	8543557		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	20464711		★☆☆☆☆ Found in Text Mining only
Myxedema, Congenital	Congenital myxedema	CTD_human_DG	12629076		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12107237, 17381350, 1761161, 18502330, 19958935, 20427420, 22001338, 26260781, 26518340, 27500488, 29088773, 30221579, 30314969, 7478621, 7714109, 8045952, 8501149, 8626855, 8636365, 8729520, 8892315, 9062474		★☆☆☆☆ Found in Text Mining only
Nodular Goiter	Nodular Goiter	LHGDN	12762632		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19636322, 22289392, 25079464		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25079464	Associate	★☆☆☆☆ Found in Text Mining only
Optic Neuropathy	Optic Neuropathy	BEFREE	20237164		★☆☆☆☆ Found in Text Mining only
Osteoarthropathy Primary Hypertrophic	Primary hypertrophic osteoarthropathy	Pubtator	7508946	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	28884682		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	9848724		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	24844218	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24844218	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36722270	Associate	★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	15012610		★☆☆☆☆ Found in Text Mining only
Papillary adenoma	Papillary Adenoma	CTD_human_DG	8413627		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	10779135, 16091757, 17220349, 18434370, 18497944, 18710471, 19082310, 19152441, 19169486, 19550078, 20535589, 24086368, 25303483, 26323637, 26338373, 29088773, 29100400, 29209896, 29516685, 30034553, 30092570, 30132406, 31658048, 8729520		★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	15115450	Associate	★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	28424481		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	8216292		★☆☆☆☆ Found in Text Mining only
Primary Hyperthyroidism	Hyperthyroidism	BEFREE	14669940, 20146656		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Hyperthyroidism	Hyperthyroidism	CTD_human_DG	7800007, 8413627, 8964822		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Hypothyroidism	Hypothyroidism	BEFREE	16320156, 7833660		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	27255745	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	8844456		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	9623732		★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	11174830, 12050212, 14759073, 15531543, 17392608, 17697008, 18727713, 19417038, 19820021, 23332130, 23563316, 25557138, 28123504, 28561265, 30725214		★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	GENOMICS_ENGLAND_DG	27525530		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	16890892		★☆☆☆☆ Found in Text Mining only
Thymus Hyperplasia	Thymus Hyperplasia	BEFREE	8941638		★☆☆☆☆ Found in Text Mining only
Thyroid Adenoma, Hyperfunctioning	Thyroid Adenoma	BEFREE	11416017, 9685222		★☆☆☆☆ Found in Text Mining only
Thyroid Adenoma, Hyperfunctioning	Thyroid Adenoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Agenesis	Thyroid Agenesis	BEFREE	10447022, 14725684, 17199441, 24859513, 28455095, 9589691, 9697705		★☆☆☆☆ Found in Text Mining only
Thyroid Agenesis	Thyroid Agenesis	ORPHANET_DG	14725684		★☆☆☆☆ Found in Text Mining only
Thyroid Agenesis	Thyroid Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	10202044, 10342363, 11041456, 11158064, 11716039, 11952038, 11994387, 12568121, 12608932, 14764816, 15164996, 15291748, 15886250, 17122103, 18631002, 18768899, 18925838, 20017620, 20039900, 20237164, 20464711, 21956421, 22399514, 22438231, 23900776, 24517461, 25061884, 25543543, 26087256, 26767650, 27456991, 27543288, 27768856, 27987211, 28127991, 28243204, 28319174, 28750432, 28938449, 29058307, 29377287, 29594051, 29631510, 29771755, 29771756, 30023342, 30107622, 30194634, 30351237, 30366347, 30401900, 30452592, 31237525, 31407208, 31488432, 31538314, 31595798, 31622470, 31700870, 31827052, 7508946, 7509671, 8751142, 9001189, 9015347, 9086563, 9225723, 9510130, 9623732		★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	31703413	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer Hurthle cell	Hurthle cell thyroid cancer	Pubtator	37716507	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	19550078, 24086368, 25303483, 26323637, 27649658, 31658048, 31758407, 36142613, 37560303, 9303357	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	BEFREE	23618770, 9426438		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10342361, 10487692, 10810302, 11039907, 11041453, 12429043, 1333981, 1420806, 15170676, 15292293, 16946009, 17118994, 17891229, 17940468, 17940470, 18502330, 18631002, 19772422, 19958935, 20429628, 20846293, 20881771, 21989446, 22244412, 22984796, 24353283, 24927793, 28036261, 28351942, 28860762, 29344196, 29845889, 29976206, 30058701, 30160089, 7478621, 8157713, 8222289, 8381075, 8385451, 8923835		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CTD_human_DG	8413627, 9062474		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	27796151, 34751390	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma With Thyrotoxicosis	Thyroid Carcinoma With Thyrotoxicosis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Crisis	Thyroid Crisis	BEFREE	29071241		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	10698593, 10946859, 11577986, 1358304, 1420806, 14633662, 14654350, 15292293, 16320156, 19250279, 19417038, 19492584, 20881771, 21190443, 21830127, 22244412, 24844218, 26181502, 29372654, 29500871, 29973096, 30485936, 30684216, 30968726, 8157713, 8981017, 9001192, 9039330, 9438142, 9640411		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	23426615, 25557138, 30485936, 36130976	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	BEFREE	10637573, 22666732, 22876533, 24248179, 24690939, 24859513, 24945425, 25153578, 25153580, 27637299, 28455095, 30240412, 31432505, 8981017		★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	LHGDN	18976153		★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	GENOMICS_ENGLAND_DG	27525530		★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 1	Thyroid dyshormonogenesis	Pubtator	27525530, 30022773, 31541602, 32765423, 34539567, 39337518	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	10566665, 10595453, 10714366, 10865036, 12804102, 1358304, 15080771, 17381350, 17917308, 19492584, 19499991, 22001338, 31077238, 7588555, 7673402, 7989485, 8413627, 8768829, 8837326, 8923835, 8980997, 9253356, 9297624, 9461313, 9709907, 9710366, 9867188		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	CTD_human_DG	8413627, 9062474		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Metabolism Abnormal	Thyroid hormone metabolism disorder	Pubtator	29973617	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Metabolism, Abnormal	Thyroid Hormone Metabolism	BEFREE	29973617		★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	BEFREE	12050212, 14725684, 16060907, 16756469, 19820021, 21186955, 21677043, 22049173, 23154162, 23332130, 27821020, 28561265		★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	GENOMICS_ENGLAND_DG	27525530		★☆☆☆☆ Found in Text Mining only
Thyroid Hurthle Cell Carcinoma	Thyroid Carcinoma	BEFREE	10037070		★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	BEFREE	10102047, 10895037, 11502839, 11577986, 14725684, 16189712, 23154162, 25153578, 26864598, 27821020, 9329388, 9697705		★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	ORPHANET_DG	25153578		★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	GENOMICS_ENGLAND_DG	27525530		★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10398146, 10810302, 11375794, 11407651, 12429043, 12804102, 1420806, 15170676, 15292293, 16946009, 17118994, 1761161, 17891229, 17940468, 17940470, 18502330, 18631002, 19958935, 20429628, 20881771, 21989446, 22244412, 22984796, 22998776, 24353283, 24927793, 26003825, 28036261, 28351942, 28860762, 29344196, 29976206, 30058701, 30160089, 7588555, 7647578, 7747250, 7999049, 8157713, 8222289, 8501149, 8729520, 8768829, 8957475, 9024242, 9167946, 9435429, 9438142		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	16756473, 18694911, 18759693		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CTD_human_DG	8413627, 9062474		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	15080771, 16091757, 16381821, 18682709, 22001338, 23979959, 24844218, 26427660, 27500488, 27649658, 30058701, 36293065, 37208644, 37716507, 9294132	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Nodule	Thyroid Nodule	BEFREE	10319940, 10526256, 10566665, 10951398, 11022192, 11119705, 11434721, 11531932, 11600550, 11914031, 12088927, 12213664, 12665646, 14713269, 15876166, 16284436, 16756473, 16990652, 17118994, 19550078, 19772422, 20146656, 20881771, 21597314, 22244412, 24789540, 26519197, 29516685, 30034553, 7673402, 8981020, 9024242, 9360556, 9435429, 9467563, 9709907, 9848712		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	10202044, 14611699, 15542454, 18811696, 31184281, 7570041, 9570567		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	25146893, 28644858, 36207832, 39337518	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	17952073, 22673349, 2358066, 23852019, 24328419, 25122677, 29973096	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	34115025	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	10037070, 10095169, 10199795, 10560955, 11201847, 12813025, 15163335, 15384882, 17293446, 18175146, 18466076, 18558604, 26181502, 28195550, 29624097, 30513035, 30968726, 7556878, 9167947		★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	LHGDN	18466076		★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	CTD_human_DG	9062474		★☆☆☆☆ Found in Text Mining only
Toxic diffuse goiter	Toxic Goiter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Toxic multinodular goiter	Toxic Goiter	BEFREE	10487707, 11167935, 19826830, 20336923, 21773967, 9467563, 9709907		★☆☆☆☆ Found in Text Mining only
Transient hypothyroxinaemia of prematurity	Transient Hypothyroxinaemia Of Prematurity	BEFREE	8104016		★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	28195550	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	29273685		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34944094	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	8664977		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	1761161, 18497944		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	9062474		★☆☆☆☆ Found in Text Mining only