NKX2-1 (NK2 homeobox 1)

Gene

• Entrez ID: 7080
• Gene name: NK2 homeobox 1
• Gene symbol: NKX2-1
• Synonyms (NCBI Gene): BCH, BHC, NK-2, NKX2.1, NKX2A, NMTC1, T/EBP, TEBP, TITF1, TTF-1, TTF1
• Chromosome: 14
• Chromosome location: 14q13.3
• Summary: This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032087	hsa-let-7f-5p	qRT-PCR	19956384
MIRT631743	hsa-miR-1244	HITS-CLIP	23824327
MIRT631742	hsa-miR-5697	HITS-CLIP	23824327
MIRT631741	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT631740	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT631739	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT631738	hsa-miR-4703-3p	HITS-CLIP	23824327
MIRT631737	hsa-miR-203a-3p	HITS-CLIP	23824327
MIRT732781	hsa-miR-338-3p	Luciferase reporter assay, Western blotting	32965722
MIRT631743	hsa-miR-1244	HITS-CLIP	23824327
MIRT631742	hsa-miR-5697	HITS-CLIP	23824327
MIRT631741	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT631740	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT631739	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT631738	hsa-miR-4703-3p	HITS-CLIP	23824327
MIRT631737	hsa-miR-203a-3p	HITS-CLIP	23824327
MIRT1186521	hsa-miR-1827	CLIP-seq
MIRT1186522	hsa-miR-23a	CLIP-seq
MIRT1186523	hsa-miR-23b	CLIP-seq
MIRT1186524	hsa-miR-23c	CLIP-seq
MIRT1186525	hsa-miR-378g	CLIP-seq
MIRT1186526	hsa-miR-4316	CLIP-seq
MIRT1186527	hsa-miR-4710	CLIP-seq
MIRT1186528	hsa-miR-495	CLIP-seq
MIRT1186529	hsa-miR-502-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXA1	Unknown	23358112
FOXA2	Unknown	23358112
FOXP2	Repression	18239190
POU3F2	Unknown	23358112
SMAD2	Unknown	23259454
SP1	Unknown	10684967
SP3	Unknown	10684967

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	23143308
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	1735431, 7559607, 14960358
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	IMP	19176457
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	23143308
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001161	Function	Intronic transcription regulatory region sequence-specific DNA binding	IDA	23143308
GO:0001161	Function	Intronic transcription regulatory region sequence-specific DNA binding	IEA
GO:0001161	Function	Intronic transcription regulatory region sequence-specific DNA binding	ISS
GO:0001764	Process	Neuron migration	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	IMP	7635972
GO:0003700	Function	DNA-binding transcription factor activity	IDA	7559607, 7713914, 16960125, 17220277
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IMP	19176457
GO:0005515	Function	Protein binding	IPI	11152647, 17474147, 19010321
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	7713914, 8675988
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	ISS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005667	Component	Transcription regulator complex	IPI	25060702
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	25060702
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	IMP	11971878
GO:0007492	Process	Endoderm development	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0009725	Process	Response to hormone	IEP	16960125
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	16960125
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	IDA	19293183
GO:0019899	Function	Enzyme binding	IPI	23382074
GO:0021537	Process	Telencephalon development	IEA
GO:0021759	Process	Globus pallidus development	IEA
GO:0021759	Process	Globus pallidus development	IMP	11854319
GO:0021766	Process	Hippocampus development	IEA
GO:0021795	Process	Cerebral cortex cell migration	IEA
GO:0021798	Process	Forebrain dorsal/ventral pattern formation	IEA
GO:0021854	Process	Hypothalamus development	IEA
GO:0021877	Process	Forebrain neuron fate commitment	IEA
GO:0021879	Process	Forebrain neuron differentiation	IEA
GO:0021892	Process	Cerebral cortex GABAergic interneuron differentiation	IEA
GO:0021895	Process	Cerebral cortex neuron differentiation	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0022029	Process	Telencephalon cell migration	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030324	Process	Lung development	IEA
GO:0030324	Process	Lung development	IEP	15494458, 16960125
GO:0030336	Process	Negative regulation of cell migration	IDA	19293183
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IDA	19293183
GO:0030878	Process	Thyroid gland development	IEA
GO:0030878	Process	Thyroid gland development	IEP	15494458
GO:0030878	Process	Thyroid gland development	IMP	11854319
GO:0030900	Process	Forebrain development	IEP	15494458
GO:0031128	Process	Developmental induction	IEA
GO:0033327	Process	Leydig cell differentiation	IEA
GO:0042753	Process	Positive regulation of circadian rhythm	IEA
GO:0042753	Process	Positive regulation of circadian rhythm	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	14960358
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	19176457
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	7559607, 7713914, 16960125, 17220277
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0060430	Process	Lung saccule development	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEP	8675988
GO:0060486	Process	Club cell differentiation	IEA
GO:0060510	Process	Type II pneumocyte differentiation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	17220277
GO:0097154	Process	GABAergic neuron differentiation	IEA
GO:1904936	Process	Interneuron migration	IEA

Other IDs

• MIM: 600635
• HGNC: 11825
• e!Ensembl: ENSG00000136352

Protein

• UniProt ID: P43699
• Protein name: Homeobox protein Nkx-2.1 (Homeobox protein NK-2 homolog A) (Thyroid nuclear factor 1) (Thyroid transcription factor 1) (TTF-1) (Thyroid-specific enhancer-binding protein) (T/EBP)
• Protein function: Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung d
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	162 → 218	Homeodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Thyroid and lung.
• Sequence:

  MSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPTAAMQQHAVGH
  HGAVTAAYHMTAAGVPQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDP
  RFPAISRFMGPASGMNMSGMGGLGSLGDVSKNMAPLPSAPRRKRRVLFSQAQVYELERRF
  KQQKYLSAPEREHLASMIHLTPTQVKIWFQNHRYKMKRQAKDKAAQQQLQQDSGGGGGGG
  GTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQAQHQAQAAQAA
  AAAISVGSGGAGLGAHPGHQPGSAGQSPDLAHHAASPAALQGQVSSLSHLNSSGSDYGTM
  SCSTLLYGRTW

• Sequence length: 371

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
Benign hereditary chorea	Pathogenic; Likely pathogenic	rs2139407646, rs28936672, rs2139408021, rs28936671, rs387906404, rs137852693, rs137852694, rs2502629750, rs2502626316, rs2502634520, rs2502635574, rs1555349146, rs1555349214, rs1057519223, rs1594407006, rs1881068627	RCV003336461 RCV002249110 RCV002250152 RCV000009536 RCV000009537 RCV000009538 RCV001262792 RCV000009543 RCV003153123 RCV003237310 RCV003237313 RCV004545921 RCV000585667 RCV003336094 RCV004818064 RCV000995588 RCV001265606	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brain-lung-thyroid syndrome	Likely pathogenic; Pathogenic	rs28936671, rs2139411832, rs2139407395, rs765736023, rs760880632, rs2139412296, rs2502630215, rs863225300, rs28936672, rs137852692, rs587776707, rs137852693, rs587776709, rs587776708, rs2139408360, rs2502626035, rs2502634899, rs2502625327, rs2502626546, rs1292946504, rs2502629225, rs2502635970, rs2502625649, rs2502629609, rs2502626225, rs199474692, rs2502626171, rs2139406837, rs1057524869, rs1447379564, rs2139407297, rs2502628616, rs757694282, rs2502628568, rs1392339617, rs2139407723, rs2502634723, rs2502627258, rs2502629005, rs2502630122, rs2502635123, rs2502636075, rs2502629445, rs1555349209, rs1555349221, rs1566615444, rs1594403511, rs1594406926, rs1057519223, rs1594403990, rs1594407150, rs775015070, rs1881214272, rs1881107186, rs1881114341	RCV001732211 RCV001787250 RCV001808174 RCV003236923 RCV002466760 RCV003336768 RCV003236939 RCV000201946 RCV003236767 RCV000009539 RCV000009540 RCV000009542 RCV000009544 RCV000009545 RCV003152843 RCV003223459 RCV003237247 RCV003237248 RCV003237249 RCV003237253 RCV003237268 RCV003237276 RCV003237280 RCV003237284 RCV003237285 RCV003237286 RCV003237287 RCV003237295 RCV003237296 RCV003237297 RCV003237298 RCV003237299 RCV003237300 RCV003237301 RCV003237302 RCV003237303 RCV003237304 RCV003237306 RCV003237307 RCV003237308 RCV003237309 RCV003237311 RCV003237312 RCV004018030 RCV003236822 RCV003236825 RCV000680048 RCV000787039 RCV000790468 RCV003236851 RCV000989203 RCV000989205 RCV002051906 RCV003236866 RCV001200886 RCV001329567 RCV001283792	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chorea	Likely pathogenic; Pathogenic	rs760880632	RCV002463841	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary ataxia	Likely pathogenic; Pathogenic	rs760880632	RCV002463841	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple myeloma	Likely pathogenic	rs1594406727	RCV000984090	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1555349214	RCV000787358	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NKX2-1-related disorder	Likely pathogenic; Pathogenic	rs28936672, rs765736023, rs2502626374, rs1448653785, rs1555349209, rs1881114341	RCV005867736 RCV003221335 RCV004545863 RCV004545662 RCV002280131 RCV005250175	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHOREA, BENIGN FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREA, BENIGN HEREDITARY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREATIC DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interstitial lung disease 2	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER, PAPILLARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	29239033		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10830305, 11076796, 12051626, 12379752, 12499091, 12584565, 15084379, 17237283, 17413979, 18320074, 18381415, 18665037, 18855882, 19040416, 19390995, 19620839, 19875957, 20068475, 20491778, 21257719, 21348892, 21799026, 21916947, 22071786, 22237264, 22383183, 22418245, 22505007, 22940844, 22982653, 23143308, 23196793, 23818522, 24097870, 24370340, 24710653, 24743794, 24775604, 25733373, 25878335, 25970685, 25982011, 26200450, 26256690, 26285240, 26317919, 26657873, 26799356, 26823891, 27526949, 27757985, 28177901, 28378892, 28527968, 28634225, 28730709, 29168459, 29237502, 29296178, 29443782, 29948461, 30131913, 30199148, 30443294, 30653118, 30718697, 31135446, 31174566, 31206846, 31363481, 31646818, 8920965, 9061032		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	11836702, 11957142, 12499091, 12923324, 17616654, 19064983		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	17982442, 19040416, 19293183, 21036415, 21257719, 21325940, 21471965, 21799026, 21907921, 21937081, 22011671, 22085929, 22237264, 22439932, 22761434, 22824147, 22940844, 23108025, 23143308, 23322301, 23358112, 23523371, 23525704, 23763999, 23887294, 23995788, 24097870, 24740995, 24743427, 24793789, 25117316, 25356948, 25733373, 25878335, 25881545, 25935651, 26069186, 26200450, 26341558, 26725982, 26823891, 26829311, 26912193, 27062706, 27456348, 27943404, 28128193, 28192407, 28285961, 28474808, 28527968, 28603843, 28625636, 28634225, 28677170, 28725929, 29069744, 29079814, 29237428, 29415661, 29508480, 29658609, 29948461, 30002193, 30169783, 30199148, 30258080, 30314701, 30329165, 30348718, 30350422, 30354850, 30389437, 30475207, 30519330, 30539871, 30628926, 30894682, 31135446, 31142791, 31196060, 31206846, 31428934, 31653481, 31782890, 31788765		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	20004952		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10401674, 29239033		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	19011567		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	23637834		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	15325072, 27682510, 8814700		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	10401674, 30723294, 8062273		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	17671725, 30075157		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21562130, 24714694, 28318118		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	27910945		★☆☆☆☆ Found in Text Mining only
Athetoid cerebral palsy	Athetoid cerebral palsy	BEFREE	23911641		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Benign Hereditary Chorea	Benign Hereditary Chorea	GENOMICS_ENGLAND_DG	11854319, 12196653, 15289765		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Benign Hereditary Chorea	Benign Hereditary Chorea	BEFREE	11971878, 15955952, 15986422, 16220345, 16830318, 17044090, 17702033, 17765926, 18661567, 20584796, 21496579, 21982616, 22515636, 22832740, 25412988, 26085604, 26723978, 29289388, 29621620, 30251064		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Benign Hereditary Chorea	Benign Hereditary Chorea	UNIPROT_DG	11971878, 15955952, 24453141, 26723978		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Benign Hereditary Chorea	Benign Hereditary Chorea	ORPHANET_DG	12891678, 16220345		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Benign hereditary chorea	Benign Hereditary Chorea	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Benign Hereditary Chorea	Benign Hereditary Chorea	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Benign Hereditary Chorea	Benign Hereditary Chorea	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brain Neoplasms	Brain Neoplasms	BEFREE	21325940		★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	21325940		★☆☆☆☆ Found in Text Mining only
Brain-lung-thyroid syndrome	Brain-Lung-Thyroid Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Carcinoma	Breast Carcinoma	BEFREE	16222150, 19620839, 23675755		★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	15084379, 24370340		★☆☆☆☆ Found in Text Mining only
C-cell hyperplasia of thyroid	Thyroid Hyperplasia	BEFREE	27409604		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10401674, 10746684, 12379752, 15084379, 17413979, 18413286, 19620839, 21325940, 26200450, 30169783, 31788765, 8814700		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12499091, 15517377, 18212743, 18855882, 19037882, 19293183, 20004952, 21257719, 21907921, 22071786, 22383183, 22761434, 22842620, 22940844, 23125078, 23507558, 23784082, 25854394, 25982011, 26045746, 26912193, 28325285, 28625636, 28843751, 29079814, 29407447, 29551766, 29948461, 30002193, 30169783, 30199148, 30332625, 30332632, 30389437, 30475207, 31142791, 31579090, 9528987		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	31174566		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	LHGDN	15098009		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	29180096		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20004952, 26657873		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	22071786, 27569293		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	21325940, 28807344		★☆☆☆☆ Found in Text Mining only
Chorea, Benign Familial	Chorea	ORPHANET_DG	12891678, 16220345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorea, Senile	Chorea	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	BEFREE	23169673, 24453141		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	UNIPROT_DG	11854318, 11854319, 15289765, 15955952, 24714694		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	GENOMICS_ENGLAND_DG	11854319, 12196653, 15289765, 23430038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	CLINVAR_DG	18788921		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	BEFREE	20020530, 24129101, 28286255, 29294041, 29477862, 29621620, 29882472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	ORPHANET_DG	24129101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lung disease	Lung Diseases	BEFREE	15517377, 28732825		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	10619822		★☆☆☆☆ Found in Text Mining only
Chronic progressive chorea	Huntington disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28672935, 28914964		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	24879590		★☆☆☆☆ Found in Text Mining only
Compensated hypothyroidism	Compensated hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	19967350		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	10370019, 10830305		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	GENOMICS_ENGLAND_DG	11854319		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	15289765, 18379122, 20020530, 20584796, 23997037, 24129101, 7635972, 9226206, 9226207, 9588495, 9881907		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	LHGDN	18379122		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	23430038		★☆☆☆☆ Found in Text Mining only
Cutaneous Fibrous Histiocytoma	Fibrous Histiocytoma	BEFREE	15084379, 15974816		★☆☆☆☆ Found in Text Mining only
Differentiated thyroid carcinoma	Thyroid Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	23894154, 24325646, 25029422, 25879635, 28703219		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	23637834		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	15289765		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	17702043		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28039713, 28745797		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	BEFREE	28777147		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	28318118		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29229852		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	22515636, 24657309		★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Thyroid cancer	Pubtator	15173224	Associate	★☆☆☆☆ Found in Text Mining only
familial non-medullary thyroid cancer	Thyroid cancer	BEFREE	15173224		★☆☆☆☆ Found in Text Mining only
Familial Nonmedullary Thyroid Cancer	Thyroid cancer	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	28328844, 31238008		★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	29104109		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	15912575		★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	18506088		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21325940		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	15289765		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10365677		★☆☆☆☆ Found in Text Mining only
hemangiopericytoma	Hemangiopericytoma	BEFREE	28295484		★☆☆☆☆ Found in Text Mining only
Hereditary Chorea	Hereditary Chorea	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	15548547, 18081917, 27409604		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	GENOMICS_ENGLAND_DG	17640327		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	LHGDN	18081917		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	16220345		★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	27744503		★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	29477862		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	29477862		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	10931427, 11854319, 12907760, 19037882, 24453141, 29477862, 30283736, 30397221, 30927038		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	LHGDN	18788921		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	29239033		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	CTD_human_DG	16863852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	BEFREE	18855882, 21071980, 23430038, 26505456, 28732825, 29538355		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases, Interstitial	Lung Diseases	BEFREE	20020530, 30927038		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	12499091, 18212743		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	15084379, 19620839, 22242187, 22383183, 23523371, 23625920, 23784082, 23995788, 30002193, 31787525, 8814700		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28039713, 28672935, 28843751		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19620839, 23675755		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28745797		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12379752, 12499091, 15517377, 18212743, 18855882, 19037882, 19293183, 20004952, 21257719, 21907921, 22071786, 22383183, 22761434, 22842620, 22940844, 23125078, 23358112, 23507558, 23625920, 23784082, 25854394, 25878335, 25982011, 26045746, 26912193, 28325285, 28625636, 28843751, 29079814, 29298082, 29407447, 29551766, 29787820, 29948461, 30002193, 30169783, 30332625, 30332632, 30389437, 30475207, 30718697, 31142791, 31579090, 8814700		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	29381996		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20004952, 26657873		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26828696, 30516690		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28078605		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	10810302, 11325833, 19506552, 24014739, 26206751, 27207655		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15832087, 17504987, 18855882, 20004952, 21397355, 22223847, 22842620, 23763999, 23818522, 26556242, 26657873, 28730258, 28933335, 29407447, 29551766, 29672706, 30350422, 31520753		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	29104109		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	23379327		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	LHGDN	15098009		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	10401674, 22209341, 27409604		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	21325940		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	31148874		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	15084379, 25935651, 30354850		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	11854319, 12891678, 15289765, 19336474, 21292530, 22832740, 23911641, 24714694, 24930029, 26196025, 28677170, 7635972		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	22515636		★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	15084379, 15087663, 23143308, 26829311, 28776576, 29375717		★☆☆☆☆ Found in Text Mining only
Multinodular goiter	Multinodular goiter	BEFREE	19176457, 25981745		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	22011671		★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic Dystonia	BEFREE	22515636		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	28318118		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasm of the posterior pituitary	Brain Neoplasms	BEFREE	30092469		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10746684, 11790979, 12051626, 15084379, 15221978, 16538064, 17504987, 19293183, 20117855, 21325940, 21355020, 21358343, 21471965, 21951666, 22020674, 22242187, 22383183, 22498723, 22572237, 22940844, 22982653, 23052371, 23125078, 23143308, 23426121, 23523371, 23675755, 23887161, 23995788, 24879590, 25117316, 25356948, 25425970, 25839701, 25878335, 25881545, 25893822, 25935651, 26045746, 26200450, 26261681, 26317919, 26337230, 26341558, 26469326, 26505456, 26657873, 26829311, 27409604, 27682510, 28009606, 28065467, 28218046, 28328844, 28378892, 28474808, 28625636, 28777147, 28843751, 28914964, 29079814, 29088717, 29543851, 29587142, 29658609, 30002193, 30067951, 30075157, 30332632, 30350422, 30379651, 31062864, 31135446, 31238008, 31285885		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	28933335		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	LHGDN	19011567		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	30558081		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29621620		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	29104109		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30793512		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroendocrine cell hyperplasia of infancy	Neuroendocrine Cell Hyperplasia	GENOMICS_ENGLAND_DG	15289765		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	23358112, 28285791, 29239033, 29316326, 30379651		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	29104109		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	29104109		★☆☆☆☆ Found in Text Mining only
Neuroma	Neuroma	BEFREE	29104109		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12051626, 18320074, 20068475, 20471712, 21257719, 22071786, 22940844, 22982653, 23064619, 25733373, 25854394, 26045746, 26337230, 26505456, 26536195, 26556242, 28213001, 28378892, 28634225, 28725929, 28730709, 29168459, 29237428, 29277771, 29410129, 29566943, 29787820, 30499220, 30519330, 30798982, 31062864, 31285885, 31614634, 31782890, 8814700		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Nonmedullary Thyroid Carcinoma	Nonmedullary thyroid carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Nonmedullary Thyroid Carcinoma	Nonmedullary thyroid carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	26657873		★☆☆☆☆ Found in Text Mining only
Ovarian mucinous tumor	Ovarian mucinous tumor	BEFREE	18665037		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20004952		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	11325833, 18497944, 19176457, 19506552, 21730105, 21814573, 23052371, 24014739, 24452548, 24893893, 25981745, 26356687, 27682510, 28601658, 28660995, 29381996, 29494399, 31229486, 31653481		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	ORPHANET_DG	21730105		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Paroxysmal kinesigenic choreoathetosis	Paroxysmal kinesigenic choreoathetosis	BEFREE	22515636, 24657309		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	28807344		★☆☆☆☆ Found in Text Mining only
Pineal Gland Neoplasm	Pineal Gland Neoplasm	BEFREE	21325940		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	11500234		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	20685887		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	18855882, 22011671, 27456348		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	21481790		★☆☆☆☆ Found in Text Mining only
Primary Hypothyroidism	Hypothyroidism	BEFREE	18957494, 29621620		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26828696, 30516690		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	29294041		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	20584796, 23430038		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	21784970		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	GENOMICS_ENGLAND_DG	11854319		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	15289765, 18957494, 23169673, 23430038, 23997037, 29388718, 29477862		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	10931427, 18957494, 20584796, 21867529, 23997037		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	20584796, 23430038		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	30352709		★☆☆☆☆ Found in Text Mining only
Rheumatic Chorea	Rheumatic Chorea	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29198077		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	12499091, 16862075, 17046168, 19390995, 26799356, 28349943, 29088717, 29566943, 29787820, 29876935, 30045295, 30385371, 31263838, 31452726, 31704153, 31782890		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	LHGDN	12499091		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12051626, 12379752, 15084379, 18855882, 21257719, 22071786, 22228640, 22383183, 23196793, 25733373, 25982011, 26317919, 28177901, 28378892, 28538407, 29069744, 29168459, 30169783, 30519330, 30798982, 30914778, 31206846, 31263838, 31646818		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	19887917		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28078605		★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	BEFREE	27910945		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	30711828		★☆☆☆☆ Found in Text Mining only
Thyroid Agenesis	Thyroid Agenesis	ORPHANET_DG	28455095		★☆☆☆☆ Found in Text Mining only
Thyroid Agenesis	Thyroid Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
THYROID CANCER, NONMEDULLARY, 1	Thyroid cancer	GENOMICS_ENGLAND_DG	19176457		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER, NONMEDULLARY, 1	Thyroid cancer	UNIPROT_DG	19176457		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10746684, 10810302, 11325833, 11500234, 18413286, 19506552, 22498723, 23358112, 24014739, 26206751, 27036019, 27207655, 27456348, 27573549, 28843751, 31788765, 8691351, 9854590		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	10365677, 21813802		★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	BEFREE	10637573, 24129101, 9226206, 9226207, 9881907		★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 5	Thyroid Dyshormonogenesis	BEFREE	7635972		★☆☆☆☆ Found in Text Mining only
Thyroid hemiagenesis	Thyroid hemiagenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	BEFREE	18506088		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10810302, 10824930, 11325833, 19772429, 21355020, 24014739, 26206751, 26657873, 27207655, 29508480, 31135446, 31788765, 8062273		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	17671725, 18682709, 18958156		★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	30516690, 31713988		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	31707387		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30628926		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	10824930, 18497944, 19506552, 27389559, 28009606, 31579090		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	19887917		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only