TPO (thyroid peroxidase)

Gene

• Entrez ID: 7173
• Gene name: Thyroid peroxidase
• Gene symbol: TPO
• Synonyms (NCBI Gene): MSA, TDH2A, TPX
• Chromosome: 2
• Chromosome location: 2p25.3
• Summary: This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893669	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs121908082	C>A,G,T	Pathogenic	Coding sequence variant, missense variant, intron variant, stop gained, synonymous variant
rs121908083	T>G	Pathogenic	Coding sequence variant, missense variant
rs121908084	G>A,C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs121908085	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs121908086	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908087	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908088	C>G,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs140124953	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs151154074	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372225161	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs547339082	C>A,T	Likely-pathogenic	Missense variant, intron variant, synonymous variant, coding sequence variant
rs760307139	C>-,CC	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs763662774	T>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs763941231	->GCCG	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs770781635	->T	Pathogenic	Coding sequence variant, stop gained
rs1057518950	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1491142370	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1558307375	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1573174859	TCAG>AT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1573380429	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1573459560	T>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018757	hsa-miR-335-5p	Microarray	18185580
MIRT030038	hsa-miR-26b-5p	Microarray	19088304
MIRT736607	hsa-let-7a-3p	RNA-seq, qRT-PCR	32824820
MIRT1449916	hsa-miR-1292	CLIP-seq
MIRT1449917	hsa-miR-3122	CLIP-seq
MIRT1449918	hsa-miR-3913-5p	CLIP-seq
MIRT1449919	hsa-miR-4471	CLIP-seq
MIRT2134460	hsa-miR-1184	CLIP-seq
MIRT2134461	hsa-miR-1205	CLIP-seq
MIRT2134462	hsa-miR-3158-5p	CLIP-seq
MIRT2134463	hsa-miR-4252	CLIP-seq
MIRT2134464	hsa-miR-4722-3p	CLIP-seq
MIRT2134465	hsa-miR-544	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CLOCK	Unknown	22284746
FOXA2	Activation	8602863
FOXE1	Unknown	10329730;20094846
TTF2	Activation	8602863

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004447	Function	Iodide peroxidase activity	IEA
GO:0004601	Function	Peroxidase activity	IBA
GO:0004601	Function	Peroxidase activity	IEA
GO:0004601	Function	Peroxidase activity	TAS	3475693
GO:0005509	Function	Calcium ion binding	IEA
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005615	Component	Extracellular space	IBA
GO:0005886	Component	Plasma membrane	TAS	2548579
GO:0006590	Process	Thyroid hormone generation	IEA
GO:0006590	Process	Thyroid hormone generation	TAS
GO:0006979	Process	Response to oxidative stress	IEA
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0020037	Function	Heme binding	IEA
GO:0035162	Process	Embryonic hemopoiesis	IDA	21149635
GO:0042446	Process	Hormone biosynthetic process	IEA
GO:0042744	Process	Hydrogen peroxide catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0098869	Process	Cellular oxidant detoxification	IEA

Other IDs

• MIM: 606765
• HGNC: 12015
• e!Ensembl: ENSG00000115705

Protein

• UniProt ID: P07202
• Protein name: Thyroid peroxidase (TPO) (EC 1.11.1.8)
• Protein function: Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03098	An_peroxidase	151 → 709	Animal haem peroxidase	Domain
  PF00084	Sushi	742 → 794	Sushi repeat (SCR repeat)	Domain
  PF07645	EGF_CA	796 → 838	Calcium-binding EGF domain	Domain

• Sequence:

  MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQR
  NLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKVNLKTQQSQHPTDALS
  EDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNTALARWLPPV
  YEDGFSQPRGWNPGFLYNGFPLPPVREVTRHVIQVSNEVVTDDDRYSDLLMAWGQYIDHD
  IAFTPQSTSKAAFGGGADCQMTCENQNPCFPIQLPEEARPAAGTACLPFYRSSAACGTGD
  QGALFGNLSTANPRQQMNGLTSFLDASTVYGSSPALERQLRNWTSAEGLLRVHARLRDSG
  RAYLPFVPPRAPAACAPEPGIPGETRGPCFLAGDGRASEVPSLTALHTLWLREHNRLAAA
  LKALNAHWSADAVYQEARKVVGALHQIITLRDYIPRILGPEAFQQYVGPYEGYDSTANPT
  VSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLRGGGLDPLIR
  GLLARPAKLQVQDQLMNEELTERLFVLSNSSTLDLASINLQRGRDHGLPGYNEWREFCGL
  PRLETPADLSTAIASRSVADKILDLYKHPDNIDVWLGGLAENFLPRARTGPLFACLIGKQ
  MKALRDGDWFWWENSHVFTDAQRRELEKHSLSRVICDNTGLTRVPMDAFQVGKFPEDFES
  CDSITGMNLEAWRETFPQDDKCGFPESVENGDFVHCEESGRRVLVYSCRHGYELQGREQL
  TCTQEGWDFQPPLCKDVNECADGAHPPCHASARCRNTKGGFQCLCADPYELGDDGRTCVD
  SGRLPRVTWISMSLAALLIGGFAGLTSTVICRWTRTGTKSTLPISETGGGTPELRCGKHQ
  AVGTSPQRAAAQDSEQESAGMEGRDTHRLPRAL

• Sequence length: 933

Pathways

KEGG:

Tyrosine metabolism
Metabolic pathways
Thyroid hormone synthesis
Autoimmune thyroid disease

Reactome:

Thyroxine biosynthesis

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; Likely pathogenic	rs749174434, rs770781635, rs1670028028, rs1385139268	RCV006442434 RCV006436376 RCV001270335 RCV001270340	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deficiency of iodide peroxidase	Pathogenic; Likely pathogenic	rs200273438, rs778515113, rs201800220, rs556552435, rs774713681, rs749174434, rs753012199, rs2125001180, rs759809305, rs121908082, rs104893669, rs121908083, rs121908084, rs121908085, rs760307139, rs121908086, rs1573459560, rs770781635, rs1573380429, rs121908088, rs1491142370, rs1464771666, rs771978129, rs138931129, rs2545855843, rs140731896, rs772164623, rs776742629, rs186620709, rs1239225665, rs867643439, rs1057518950, rs140124953, rs763941231, rs766399662, rs1558307375, rs763662774, rs1667768234, rs1382787497	RCV001329365 RCV003230667 RCV001376081 RCV002280187 RCV002274208 RCV001808258 RCV002250953 RCV002251166 RCV002277634 RCV000004257 RCV000004258 RCV000004259 RCV000004260 RCV000004261 RCV000004262 RCV000004263 RCV000004264 RCV000004265 RCV000004267 RCV000004268 RCV000004269 RCV003317777 RCV003331725 RCV004801342 RCV003447729 RCV003447730 RCV004796820 RCV004701726 RCV005014908 RCV005015018 RCV005030335 RCV001196337 RCV000414861 RCV000779280 RCV000709870 RCV000761531 RCV000761530 RCV000779282 RCV001257078 RCV001257080	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Pathogenic	rs778515113	RCV005912570	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs778515113	RCV001374909	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TPO-related disorder	Likely pathogenic; Pathogenic	rs2546096706, rs138931129, rs776742629, rs992392323, rs763941231	RCV003400433 RCV003399452 RCV004741637 RCV003982666 RCV003932797	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL THYROID DYSHORMONOGENESIS	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROSS MOTOR DEVELOPMENT DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism due to TSH receptor mutations	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DYSHORMONOGENESIS 2A	—	CTD, HPO, Orphanet CTD, HPO, Orphanet CTD, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ablepharon	Ablepharon	BEFREE	29027029		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	10520899, 25935328, 9745420		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29508480		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10487692, 1761161, 1996981, 31777257		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	16614712		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Diseases	Adrenal Gland Diseases	BEFREE	10520899		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	9745420		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	31779485		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	28670258		★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	BEFREE	30704970		★☆☆☆☆ Found in Text Mining only
amyloidosis IX	Amyloidosis	Pubtator	26405069	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27756506		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	8157713, 8631011		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30688193		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30688193		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27540046		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36738663	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	22947910, 24518246	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	28816533, 30479075		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	17133518, 27866117, 28438224, 29737427, 31758059		★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	BEFREE	26618669		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27540046		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30673084		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29223069		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29223069, 30256331		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	15952102		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	10520899, 28349935, 38295322	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12161510, 16381988, 1716261, 17334650, 20573721, 22326521, 22554526, 27442635, 28049387, 28575127, 28911134, 29234623, 29312834, 29353393, 29373441, 29422338, 29431870, 30081426, 30486698, 30673084, 30742860, 30951172, 31044758, 31128301, 31529601, 8737022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	CTD_human_DG	27869686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	10213924, 16723809, 17010173, 17141745, 2742742, 28092700, 28493284, 28938453, 29383139, 29388046, 30128632, 30182359, 30368475, 30398407, 30807792, 31766063		★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	28556404, 31373907		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29403560		★☆☆☆☆ Found in Text Mining only
Bamforth syndrome	Bamforth-Lazarus syndrome	BEFREE	24219130		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	10718546		★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	11446655		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	17141745		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	17141745		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	28575127, 29134650, 30742860, 31128301		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24114667, 28575127	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37407700	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	1996981, 8691351		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12941836		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	29320567	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	29373441, 29422338, 29431870		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	28527404, 28863961		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	28863961		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	31332222		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	9794931		★☆☆☆☆ Found in Text Mining only
Colitis Microscopic	Microscopic colitis	Pubtator	23776613	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26140605		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33779485	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	15613581	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	28973696		★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	10102047, 10468986, 10895037, 11061528, 11238503, 11415848, 11525266, 12490071, 12938097, 1401057, 14751036, 15055360, 15745925, 16684826, 17381485, 17547680, 18029453, 19189706, 19243353, 20101889, 2096156, 20963560, 21340161, 21707688, 21981063, 22435912, 23754668, 24158420, 24717978, 24735383, 24745015, 25241611, 25328990, 26174974, 26506010, 26761947, 26777044, 26831560, 27135621, 27173810, 27525530, 28215547, 28867693, 29790453, 29845893, 487612, 7550241, 8027236, 8981018, 9024270, 9814507		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	LHGDN	11916616, 15745925, 18029453		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	CTD_human_DG	12564727, 14751036, 16187919, 17381485		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	15745925, 21274344, 24745015, 25241611, 26761947, 26777044, 26831560, 26894573, 27173810, 27525530, 30022773, 30375286, 34128397, 34200080, 34276565, 35002963, 36884306, 37361526, 37699049, 37780999, 38295322, 40362701	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	GENOMICS_ENGLAND_DG	27166716		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness	Deafness	Pubtator	21274344	Associate	★☆☆☆☆ Found in Text Mining only
Deficiency of iodide peroxidase (disorder)	Deficiency of iodide peroxidase	CLINVAR_DG	10084596, 10468986, 11061528, 11916616, 1401057, 14751036, 15745925, 17468186, 18029453, 23236987, 23512414, 24482635, 25241611, 27373559, 27617131, 7550241, 9024270		★☆☆☆☆ Found in Text Mining only
Deficiency of iodide peroxidase (disorder)	Deficiency of iodide peroxidase	UNIPROT_DG	10084596, 10468986, 11061528, 11415848, 11874711, 11916616, 12213873, 12490071, 12843174, 12864797, 12938097, 16284446, 16684826, 27305979, 7550241, 9024270, 9924196		★☆☆☆☆ Found in Text Mining only
Deficiency of iodide peroxidase (disorder)	Deficiency of iodide peroxidase	GENOMICS_ENGLAND_DG	27166716		★☆☆☆☆ Found in Text Mining only
Deficiency of iodide peroxidase (disorder)	Deficiency of iodide peroxidase	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	26618669		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28419566		★☆☆☆☆ Found in Text Mining only
Depression, Postpartum	Mental Depression	BEFREE	28119573, 28850854		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	31779485		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34128397, 37780999	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29234623, 8737022		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29234623, 8737022		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	17334650, 17392553, 18322310, 23480181, 26070305, 26405068, 28024155	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17334650, 20603341, 21270278, 26070305, 26405068, 28024155, 28388722, 29431870, 30952617, 8737022		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27605039		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	17392553		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34545296	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	15170676, 23754668, 8574299, 8691351, 8732452		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	11174830, 16889491		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	28556404, 31373907		★☆☆☆☆ Found in Text Mining only
Endemic Cretinism	Endemic Cretinism	CTD_human_DG	12564727, 14751036, 16187919, 17381485		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31133960		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	31471687		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	37780999	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	BEFREE	30450029		★☆☆☆☆ Found in Text Mining only
Familial benign pemphigus	Benign Pemphigus	BEFREE	29915578		★☆☆☆☆ Found in Text Mining only
Familial thrombocytosis	Thrombocytosis	BEFREE	10930985		★☆☆☆☆ Found in Text Mining only
Familial thyroid dyshormonogenesis	Thyroid Dyshormonogenesis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi Anemia	BEFREE	11446655		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	11446655		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	28943926, 8062273		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	21829393	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	25935328		★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	16723809, 30681972		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	34115025	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 45,X	Gonadal Dysgenesis	BEFREE	15623818		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	10520899, 10585396, 11556840, 1379223, 16285898, 16478776, 17612898, 21829393, 28219358, 28845025, 34074094, 3475693, 7615799, 8627148, 8852512	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	BEFREE	11327880, 12459031, 1379223, 15817921, 16025878, 16285898, 16868133, 1716261, 17344890, 17823263, 1914236, 21829393, 23242661, 2383265, 24586183, 25345847, 27829681, 28219358, 28845025, 29574428, 29966154, 30208979, 30215224, 30226207, 30742860, 8189073, 8627148		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	1914236, 20675271	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gross motor development delay	Developmental delay	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto Disease	BEFREE	10213924, 1379223, 15055474, 16285898, 16723809, 17010173, 17141745, 17823263, 18695079, 20883148, 24174177, 24586183, 25935328, 27268232, 2742742, 27442635, 27872865, 28092700, 28171686, 28217937, 28493284, 28544477, 28768936, 28845025, 28868258, 28938453, 29383139, 29388046, 29442475, 29959689, 30128632, 30182359, 30208979, 30332318, 30345813, 30360003, 30368475, 30398407, 30681972, 30742860, 30807792, 30926877, 31671724, 31766063, 31776300		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	10520899, 10585396, 1379223, 16285898, 17459075, 20883148, 2242608, 25412700, 25719932, 27268232, 28845025, 30332318, 30926877, 40362783, 8603516, 9630202	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	LHGDN	17696828		★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	21274344	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	30160475		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	31118347		★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperprolactinemia	BEFREE	30614113		★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	29950118	Associate	★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	12389641, 17823263, 20408864, 20956436, 22763653, 27919794, 28747386, 28750432, 30004926, 30610492, 30673084, 31780218, 8345048		★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	BEFREE	17049295		★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	BEFREE	26405073		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	12864797, 12938097, 1401057, 15290270, 15623818, 17823263, 19189706, 20408864, 20956436, 21490078, 24420335, 25328990, 25719932, 26406404, 26963610, 27605039, 27861716, 28071990, 28102101, 28260263, 28433882, 28500830, 28882978, 28954485, 29260625, 29459556, 29462796, 29529842, 29966154, 30093941, 30276524, 30332318, 30673084, 31005502, 31064360, 31287527, 31780218, 31788940, 487612, 7544244, 9647032		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	Pubtator	15613581, 16284446, 21490078, 24420335, 25403028, 25564141, 25719932, 26963610, 28500830, 32319661, 36835420, 37361526, 37780999	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	LHGDN	19189706		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	GWASCAT_DG	27182965, 30367059, 30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	Pubtator	29459556	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	29463118, 29516280		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	27819522, 28142109, 28983953, 29190168, 29243329, 29532903, 29738335, 29757439, 29856837, 29971001, 30187942, 30507320, 30885035, 31280643, 31723222		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29223069, 30704970, 31614008		★☆☆☆☆ Found in Text Mining only
Insomnia Fatal Familial	Insomnia	Pubtator	30012679	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22387573, 27305979		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	37780999	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	28526543		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	34115025	Associate	★☆☆☆☆ Found in Text Mining only
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3	Lymphoblastic Leukemia	BEFREE	17923635		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	10329595, 12039426, 15101498		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	2174102		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	10583716	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	9794931		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	2174102, 31301081		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	11571539	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	28722770		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	19419839		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	19419839		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	19419839, 28544477, 28712818, 28816533, 29267515, 30952617		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	19419839		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37407700	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	21088137	Associate	★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	26618669, 31817016		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	21797672, 21801606		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28575127, 29134650, 30742860, 31128301		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30548299		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12941836		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31114758		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	12459031, 15062578, 15080787, 15170676, 16284446, 17854396, 21833035, 23754668, 8117301, 8691351		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	29214646		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	8960108		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17600477, 17679169, 25933431, 28575127, 29134650, 29508480, 30160475, 31502005		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	35059043	Associate	★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	8691351		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	8691351		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	27899309		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	17392553, 28945847, 30068285		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	29059580, 30907987, 30951172		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	17140771, 30700184		★☆☆☆☆ Found in Text Mining only
Multinodular goiter	Multinodular goiter	BEFREE	22169789, 22435912		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29390394		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	18829110, 26500138		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	8704230		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10649249		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	31332222		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28819171		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	24602337		★☆☆☆☆ Found in Text Mining only
Myxedema, Congenital	Congenital myxedema	CTD_human_DG	12564727, 14751036, 16187919, 17381485		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10487692, 11762710, 12941836, 16007166, 17488796, 1761161, 22498723, 25933431, 30933045, 31114758, 8117301		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22249010		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28556404, 30452793		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	BEFREE	28973696		★☆☆☆☆ Found in Text Mining only
Nodular Goiter	Nodular Goiter	BEFREE	29164514		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30016121		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11571539, 16052231		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35059043	Associate	★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	BEFREE	17049295		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	27749786		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	8704230		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	28810821		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	22967017		★☆☆☆☆ Found in Text Mining only
OVERLAP CONNECTIVE TISSUE DISEASE	MASS syndrome	BEFREE	28067429		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31114758		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	18509003, 18710471, 19208736, 20447896, 26406404, 26477313, 26756467, 28868258, 29164514, 29541194, 29935011, 30081426, 30536322, 31118347, 8691351		★☆☆☆☆ Found in Text Mining only
Parathyroid hyperplasia	Parathyroid hyperplasia	BEFREE	29143548		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17923635, 23938306, 24894118, 26882974, 27922865, 27993522, 28291592, 28683089, 28689259, 28848423, 29111028, 29157745, 29196955, 29287113, 29379463, 29910157, 29949032, 31037416, 31373907, 31450511, 31572166		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	25125346	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28714593, 28848423, 29111028, 29287113, 29949032		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	28556404, 29416500, 29475590, 31373907, 31450511, 31779816		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	31114758		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	26831096, 29675021	Associate	★☆☆☆☆ Found in Text Mining only
Pendred syndrome	Pendred syndrome	Pubtator	21274344	Associate	★☆☆☆☆ Found in Text Mining only
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	BEFREE	20083340, 27861346, 30576008		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	28810821		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28419566		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	30513409		★☆☆☆☆ Found in Text Mining only
Primary Hypothyroidism	Hypothyroidism	BEFREE	23512414, 28923047		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	8704230		★☆☆☆☆ Found in Text Mining only
Progressive pseudorheumatoid dysplasia	Progressive Pseudorheumatoid Dysplasia	BEFREE	28119573		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	12039426, 15101498, 20083340, 27001391, 27861346, 27922865, 28207803, 28291592, 29196955, 29910157, 30576008, 31037416, 31221578, 31348305, 31450511, 31572166		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	31157131		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	28142109, 29215956, 30885035, 31146647, 31280643, 31805421		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	8960108		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28142109, 29215956, 29267515, 29312834, 30885035, 31146647, 31280643, 31805421		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	2022716		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	29267515		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	LHGDN	18314161		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Erosion	Skin Erosion	BEFREE	30386987		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	29458746		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	29458746, 30456738		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	29679174		★☆☆☆☆ Found in Text Mining only
Sleep-Disordered Breathing	Sleep Apnea	BEFREE	29679174		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	17923635		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	BEFREE	31639532		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	29267515		★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	16728541, 19960894, 28500830, 28746798, 29126290, 29273014, 29846629, 30568076, 30681614, 31429897, 31724489, 31813343		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29267515		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	25249066		★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 2 (disorder)	Thrombocytopenia	BEFREE	10896251		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	BEFREE	14767209		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	LHGDN	18041648, 18314161		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	16868133, 20039900, 25345847, 27829681, 28750432, 31407208		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	25922907, 26818109, 33198784, 36211409, 36465624, 37361526, 37407700, 39408960	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10487692, 10718546, 12459031, 15062578, 15080787, 15170676, 16284446, 16728576, 17854396, 21833035, 22435912, 22498723, 23754668, 26406404, 8117301, 8157713, 8691351, 8732452, 9508203		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	34751390	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	12073143, 12459031, 12960013, 15952102, 16285898, 24586183, 25719932, 26405068, 28049387, 28102101, 28768936, 28972979, 29336230, 30742860, 31197884, 31313264, 31476287, 8124482, 8157713, 8691351, 8777380, 8808096, 8864829, 9508203		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	LHGDN	12459031, 12501244		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	24420335, 25719932, 29039351, 33600668, 38164867	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 1	Thyroid dyshormonogenesis	Pubtator	15613581, 15745925, 25564141, 26831560, 26894573, 27173810, 27525530, 30022773, 30240412, 30915365, 34539567, 37699049	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 1	Thyroid Dyshormonogenesis	BEFREE	18029453		★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 1	Thyroid Dyshormonogenesis	ORPHANET_DG	20537182, 21543982		★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 2A	Thyroid dyshormonogenesis	Pubtator	15745925, 26777044, 37780999, 38295322	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid hemiagenesis	Thyroid hemiagenesis	BEFREE	30283736		★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	16723809	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	BEFREE	29790453		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10718546, 12459031, 15062578, 15080787, 15170676, 15196594, 16284446, 21833035, 23754668, 26003825, 26818109, 31777257, 8117301, 8691351		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	15062578, 16614712, 18509003		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	11556840, 15196594, 16284446, 26818109, 27329729, 36737753, 37352166, 38295322	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	11525266, 15817921, 26406404, 28678169, 28868258, 30825751, 9508203		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	11556840, 24114667, 25933431, 27852061, 28644858, 28845025, 33030666, 36207832, 38295322, 8617771	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	17010173, 20573721, 28323998, 29529842, 31184281		★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	10585396, 11549579, 12385033, 1372592, 1379223, 1381722, 17334650, 22169789, 22309426, 22947910, 24114667, 26405068, 26405073, 27268232, 28845025, 28922436, 29675021, 30926877, 32597152, 34104248, 37197658, 7686925, 9246211	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	34115025	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	30610248, 31439949		★☆☆☆☆ Found in Text Mining only
Toxic diffuse goiter	Toxic Goiter	BEFREE	11600551		★☆☆☆☆ Found in Text Mining only
Transient hypothyroxinaemia of prematurity	Transient Hypothyroxinaemia Of Prematurity	BEFREE	26565538		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	15623818, 29915563, 7734902, 8664977, 9161699		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	30479075		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	29320567	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	29026419		★☆☆☆☆ Found in Text Mining only