TXNRD2 (thioredoxin reductase 2)

Gene

• Entrez ID: 10587
• Gene name: Thioredoxin reductase 2
• Gene symbol: TXNRD2
• Synonyms (NCBI Gene): GCCD5, SELZ, TR, TR-BETA, TR3, TRXR2, TXNR2
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing fla

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200606822	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs202059967	A>C,G	Uncertain-significance, likely-benign, likely-pathogenic	Stop gained, synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005748	hsa-miR-17-3p	Luciferase reporter assay, Quantitative proteomic approach, Western blot	21203553
MIRT044324	hsa-miR-106b-5p	CLASH	23622248
MIRT039271	hsa-miR-671-5p	CLASH	23622248
MIRT495538	hsa-miR-7851-3p	PAR-CLIP	22291592
MIRT495537	hsa-miR-3929	PAR-CLIP	22291592
MIRT495536	hsa-miR-4419b	PAR-CLIP	22291592
MIRT495535	hsa-miR-4478	PAR-CLIP	22291592
MIRT495534	hsa-miR-6765-3p	PAR-CLIP	22291592
MIRT495533	hsa-miR-619-5p	PAR-CLIP	22291592
MIRT495532	hsa-miR-6506-5p	PAR-CLIP	22291592
MIRT495531	hsa-miR-5191	PAR-CLIP	22291592
MIRT495530	hsa-miR-6762-3p	PAR-CLIP	22291592
MIRT005748	hsa-miR-17-3p	qRT-PCR, Western blot	27505139
MIRT495538	hsa-miR-7851-3p	PAR-CLIP	22291592
MIRT495537	hsa-miR-3929	PAR-CLIP	22291592
MIRT495536	hsa-miR-4419b	PAR-CLIP	22291592
MIRT495535	hsa-miR-4478	PAR-CLIP	22291592
MIRT495534	hsa-miR-6765-3p	PAR-CLIP	22291592
MIRT495533	hsa-miR-619-5p	PAR-CLIP	22291592
MIRT495532	hsa-miR-6506-5p	PAR-CLIP	22291592
MIRT495531	hsa-miR-5191	PAR-CLIP	22291592
MIRT495530	hsa-miR-6762-3p	PAR-CLIP	22291592
MIRT1465591	hsa-miR-1343	CLIP-seq
MIRT1465592	hsa-miR-151-5p	CLIP-seq
MIRT1465593	hsa-miR-151b	CLIP-seq
MIRT1465594	hsa-miR-193a-5p	CLIP-seq
MIRT1465595	hsa-miR-3176	CLIP-seq
MIRT1465596	hsa-miR-3922-3p	CLIP-seq
MIRT1465597	hsa-miR-4757-5p	CLIP-seq
MIRT1465598	hsa-miR-4793-5p	CLIP-seq
MIRT2139950	hsa-miR-1909	CLIP-seq
MIRT2139951	hsa-miR-3692	CLIP-seq
MIRT2139952	hsa-miR-4464	CLIP-seq
MIRT2139953	hsa-miR-4748	CLIP-seq
MIRT2396550	hsa-miR-146b-3p	CLIP-seq
MIRT2396551	hsa-miR-3173-5p	CLIP-seq
MIRT2396552	hsa-miR-874	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000305	Process	Response to oxygen radical	TAS	10455115
GO:0004791	Function	Thioredoxin-disulfide reductase (NADPH) activity	IBA
GO:0004791	Function	Thioredoxin-disulfide reductase (NADPH) activity	IEA
GO:0004791	Function	Thioredoxin-disulfide reductase (NADPH) activity	ISS
GO:0004791	Function	Thioredoxin-disulfide reductase (NADPH) activity	TAS	9923614
GO:0005515	Function	Protein binding	IPI	20413580
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	10215850
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0010269	Process	Response to selenium ion	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016668	Function	Oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043025	Component	Neuronal cell body	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045454	Process	Cell redox homeostasis	IBA
GO:0045454	Process	Cell redox homeostasis	IEA
GO:0045454	Process	Cell redox homeostasis	IMP	24601690
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0055093	Process	Response to hyperoxia	IEA
GO:0098869	Process	Cellular oxidant detoxification	IEA

Other IDs

• MIM: 606448
• HGNC: 18155
• e!Ensembl: ENSG00000184470

Protein

• UniProt ID: Q9NNW7
• Protein name: Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9) (Selenoprotein Z) (SelZ) (TR-beta) (Thioredoxin reductase TR3)
• Protein function: Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis (PubMed:24601690). Maintains thioredoxin in a reduced state. May play a role in redox-regulated cell signaling. {ECO:0000250|UniProtK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07992	Pyr_redox_2	40 → 375	Pyridine nucleotide-disulphide oxidoreductase	Domain
  PF02852	Pyr_redox_dim	395 → 508	Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the prostate, ovary, liver, testis, uterus, colon and small intestine. Intermediate levels in brain, skeletal muscle, heart and spleen. Low levels in placenta, pancreas, thymus and peripheral blood leukocytes. Accor
• Sequence:

  MAAMAVALRGLGGRFRWRTQAVAGGVRGAARGAAAGQRDYDLLVVGGGSGGLACAKEAAQ
  LGRKVAVVDYVEPSPQGTRWGLGGTCVNVGCIPKKLMHQAALLGGLIQDAPNYGWEVAQP
  VPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKASFVDEHTVCGVAKGGKEILLS
  ADHIIIATGGRPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGI
  GLDTTIMMRSIPLRGFDQQMSSMVIEHMASHGTRFLRGCAPSRVRRLPDGQLQVTWEDST
  TGKEDTGTFDTVLWAIGRVPDTRSLNLEKAGVDTSPDTQKILVDSREATSVPHIYAIGDV
  VEGRPELTPIAIMAGRLLVQRLFGGSSDLMDYDNVPTTVFTPLEYGCVGLSEEEAVARHG
  QEHVEVYHAHYKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALG
  IKCGASYAQVMRTVGIHPTCSEEVVKLRISKRSGLDPTVTGCUG

• Sequence length: 524

Pathways

KEGG:

Selenocompound metabolism
Pathways in cancer
Hepatocellular carcinoma

Reactome:

Detoxification of Reactive Oxygen Species

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ependymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL GLUCOCORTICOID DEFICIENCY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, OPEN-ANGLE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glucocorticoid deficiency 5	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ANGLE CLOSURE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYMPTOMS OF DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TXNRD2-associated Cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TXNRD2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
22q11 Deletion Syndrome	22q11 deletion syndrome	BEFREE	31220439		★☆☆☆☆ Found in Text Mining only
22q11 Deletion Syndrome	22q11 deletion syndrome	Pubtator	31220439	Associate	★☆☆☆☆ Found in Text Mining only
Aarskog syndrome	Aarskog Syndrome	BEFREE	24601690, 28450305, 29709707, 30817990		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	31585438		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	28505344		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24440706		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24440706		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	23762225		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16424062, 17634480, 20003265, 21399657, 23597419, 24278290, 25002657		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16868544, 20003265, 33885357	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28414076		★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	24601690		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	21247928, 29709707		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	21247928, 29709707		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	26315584		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	31079872		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22615972		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20378690		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22615972	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	38011841	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	38093364	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25703281, 26763822		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34545296	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	26763822		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	26221035	Associate	★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	28505344		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	21247928		★☆☆☆☆ Found in Text Mining only
Familial glucocorticoid deficiency	Glucocorticoid Deficiency	BEFREE	24601690, 29709707		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial glucocorticoid deficiency	Glucocorticoid Deficiency	GENOMICS_ENGLAND_DG	24601690		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial glucocorticoid deficiency	Glucocorticoid Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Glucocorticoid Deficiency 1	Glucocorticoid deficiency	Pubtator	38011841	Associate	★☆☆☆☆ Found in Text Mining only
Familial Glucocorticoid Deficiency Type 1	Glucocorticoid Deficiency	ORPHANET_DG	24601690		★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	21473875		★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	1619012, 20808683, 20827662, 21987803, 22220593, 22460197, 23240983, 24550004, 24722129, 25502991, 25867808, 26041374, 28222413, 28235578, 28557707, 30027432, 7593433, 7711514, 7833659, 7833674, 7838159, 8187964, 8200958, 8529109, 8563471, 8838149, 8954015, 8958790, 9086568, 9086569, 9685218		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	GWASCAT_DG	22922875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	BEFREE	28505344		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma Open Angle	Open angle glaucoma	Pubtator	30317457, 32476818, 33726755	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASDB_DG	22922875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Open-Angle	Glaucoma	GWASCAT_DG	26752265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Open-Angle	Glaucoma	CTD_human_DG	26752265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	26752265, 28505344, 30317457		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	CTD_human_DG	26752265		★☆☆☆☆ Found in Text Mining only
GLUCOCORTICOID DEFICIENCY 5	Glucocorticoid Deficiency	CLINVAR_DG	24601690		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperlipidemia	Hyperlipidemia	BEFREE	24440706		★☆☆☆☆ Found in Text Mining only
Hypernatriuria	Hypernatriuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	28045936	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	28457184		★☆☆☆☆ Found in Text Mining only
Hyperthyroxinemia, Familial Dysalbuminemic	Hyperthyroxinemia, Dysalbuminemic	BEFREE	30027432		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemic coma	Hypoglycemic coma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemic seizures	Hypoglycemic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	31585438		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	31760908		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31079872		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	24058403, 27256326, 29653292, 30474788		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12530083		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33332541	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	18422776	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16424062, 17634480, 20003265, 21399657, 23597419, 24278290, 25002657, 27253998		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28414076		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21716162, 23762225, 25284284, 27197287		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	21716162		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	23731250, 25548921, 27253998		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21473875, 23731250, 27632932, 29080841		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22615972		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21399657, 31760908		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28844667		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25703281, 31295469		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21399657, 23183175, 23731250, 25820519, 27149915, 27253998, 29742977, 29750276, 9226219		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28414076		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25449029		★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	BEFREE	30474788		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26573231		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	22460197		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	28505344		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21716162, 23762225, 25284284, 27197287		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	21716162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21716162, 23133653, 25284284, 26847995, 27197287	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Quadriplegia	Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	22615972		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	27473727		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15340358		★☆☆☆☆ Found in Text Mining only
Secondary Open Angle Glaucoma	Open Angle Glaucoma	CTD_human_DG	26752265		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	22337325		★☆☆☆☆ Found in Text Mining only
Testicular adrenal rest tumor	Testicular adrenal rest tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	23731250, 25548921, 27253998		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	23806029		★☆☆☆☆ Found in Text Mining only
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	Thyroid Hormone Resistance	BEFREE	1619012, 8187964, 8514853, 8958790		★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Thyroid Hormone Resistance	BEFREE	1619012, 8187964, 8514853, 8958790		★☆☆☆☆ Found in Text Mining only
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	Thyroid Hormone Resistance	BEFREE	8696005, 8958790		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	23731250, 25548921, 27253998		★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	8696005		★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis due to pituitary thyroid hormone resistance	Thyrotoxicosis	BEFREE	8696005		★☆☆☆☆ Found in Text Mining only
Thyrotroph adenoma	Adenoma	BEFREE	29695647, 30027432		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	8529109, 9086569		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25820519		★☆☆☆☆ Found in Text Mining only