COX2 (mitochondrially encoded cytochrome c oxidase II)

Gene

• Entrez ID: 4513
• Gene name: Mitochondrially encoded cytochrome c oxidase II
• Gene symbol: COX2
• Synonyms (NCBI Gene): COII, MTCO2
• Chromosome: MT
• Chromosome location: -

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003964	hsa-miR-143-3p	Microarray	17875710
MIRT003965	hsa-miR-101-3p	Microarray	17875710
MIRT052383	hsa-let-7a-5p	CLASH	23622248
MIRT052290	hsa-let-7b-5p	CLASH	23622248
MIRT051845	hsa-let-7c-5p	CLASH	23622248
MIRT050864	hsa-miR-17-5p	CLASH	23622248
MIRT048680	hsa-miR-99a-5p	CLASH	23622248
MIRT048596	hsa-miR-100-5p	CLASH	23622248
MIRT044807	hsa-miR-320a	CLASH	23622248
MIRT039467	hsa-miR-652-3p	CLASH	23622248
MIRT039467	hsa-miR-652-3p	CLASH	23622248
MIRT038368	hsa-miR-296-3p	CLASH	23622248
MIRT037539	hsa-miR-744-5p	CLASH	23622248
MIRT035810	hsa-miR-1908-5p	CLASH	23622248
MIRT052894	hsa-miR-3934-5p	CLASH	23622248
MIRT053759	hsa-miR-143-5p	Luciferase reporter assay, qRT-PCR, Western blot	24616567
MIRT003965	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR	23608225
MIRT003965	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR	23608225
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR	25047043
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR	25047043
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR	25047043
MIRT437978	hsa-miR-137	FACS, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25064845
MIRT437978	hsa-miR-137	FACS, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25064845
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR	25047043
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR	25047043
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR	25047043
MIRT437978	hsa-miR-137	FACS, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25064845
MIRT437978	hsa-miR-137	FACS, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25064845
MIRT731141	hsa-miR-26b-5p	qRT-PCR, Luciferase reporter assay, Western blot	25483152
MIRT731141	hsa-miR-26b-5p	qRT-PCR, Luciferase reporter assay, Western blot	25483152
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay	25767384
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay	25767384
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay	25767384
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay	25767384
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay	25767384
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25767384
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25767384
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25767384
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25767384
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25767384
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25767384
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25767384
MIRT438527	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25767384
MIRT051845	hsa-let-7c-5p	qRT-PCR	31766503
MIRT733782	hsa-miR-542-3p	ELISA, Western blotting	33785768
MIRT733782	hsa-miR-542-3p	ELISA, Western blotting	33785768
MIRT734574	hsa-miR-105-3p	Immunohistochemistry (IHC), qRT-PCR	33123477
MIRT437978	hsa-miR-137	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR	32498294
MIRT438527	hsa-miR-146a-5p	Western blotting, qRT-PCR	36409752

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0004129	Function	Cytochrome-c oxidase activity	IBA
GO:0004129	Function	Cytochrome-c oxidase activity	IEA
GO:0004129	Function	Cytochrome-c oxidase activity	IMP	10486321
GO:0004129	Function	Cytochrome-c oxidase activity	NAS	2550900
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	23125284, 24403053, 24448823, 25464930, 25959673, 28330871, 29154948, 29355485, 29381136
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	16826196, 22802641
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	19393246
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	ISS
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	NAS	2550900, 30030519
GO:0007595	Process	Lactation	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0022900	Process	Electron transport chain	IEA
GO:0031966	Component	Mitochondrial membrane	IBA
GO:0031966	Component	Mitochondrial membrane	IDA	30030519
GO:0042773	Process	ATP synthesis coupled electron transport	IBA
GO:0045277	Component	Respiratory chain complex IV	IBA
GO:0045277	Component	Respiratory chain complex IV	IDA	1651240
GO:0045277	Component	Respiratory chain complex IV	IEA
GO:0045333	Process	Cellular respiration	NAS	30030519
GO:0045471	Process	Response to ethanol	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 516040
• HGNC: 7421
• e!Ensembl: HGNC

Protein

• UniProt ID: P00403
• Protein name: Cytochrome c oxidase subunit 2 (EC 7.1.1.9) (Cytochrome c oxidase polypeptide II)
• Protein function: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiqu
• PDB: 3VRJ, 5Z62
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02790	COX2_TM	1 → 83	Cytochrome C oxidase subunit II, transmembrane domain	Family
  PF00116	COX2	95 → 214	Cytochrome C oxidase subunit II, periplasmic domain	Domain

• Sequence:

  MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQE
  METVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNS
  YMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLN
  QTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL

• Sequence length: 227

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

TP53 Regulates Metabolic Genes
Respiratory electron transport

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
CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE AND BILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELAS SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX V DEFICIENCY, MITOCHONDRIAL TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY, HEREDITARY, LEBER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROD-CONE DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULNAR POLYDACTYLY OF FINGERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acoustic Neuroma	Acoustic Neuroma	BEFREE	25616959, 31291992		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	32171274	Stimulate	★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	17488409		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	19485927, 19748095		★☆☆☆☆ Found in Text Mining only
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	12865795		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28270082		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	29511434		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10471521, 10630643, 10668484, 10815926, 11005569, 11059772, 11223821, 11448905, 11592775, 11793368, 11920472, 11920515, 12469191, 12713622, 14616542, 15246187, 15269153, 15704107, 16081631, 16733863, 18094611, 18230181, 18327873, 18443952, 18648368, 19925030, 20075740, 20082476, 20686774, 24014049, 24950702, 9731479, 9823297		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	11005569, 11059772, 12060038, 14641306, 15585388, 15720819, 15958546, 17477358, 17581270, 21971589, 22258871, 24206575, 30982333		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	15816542		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	12144868, 14744769, 18399550, 22696230, 26022894, 26452035, 29025423, 29238224, 30121641, 9823297		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	10070951, 22898640		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	23289871, 30402808, 30972191		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10398082, 11129221, 11687954, 11920515, 12873979, 15550453, 17277229, 18094611, 18230181, 19031967, 19205707, 19246453, 19307727, 19470469, 20427397, 21573497, 28729694, 28948694, 29137605, 29339153, 7926468		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	10945606, 11129221, 11751489, 12873979, 15550453, 15807932, 16818642, 18094611, 18167131, 19031967, 19205707, 28139497, 7926468		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	10419916, 11685545, 11713587, 11945149, 12102579, 12174906, 14508092, 14585257, 15188000, 15285921, 15930344, 18094611, 18844223, 19544971, 20593240, 24245549, 26609171		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	31187468		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	26984380		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	17064999, 30349293		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22707305, 28417956		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	22992787		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	30367261		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	18173398		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30953868		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	11980643		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	11032891, 36835494	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	28123497, 29559247		★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	20593240		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	12362410, 15294873, 17300945		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30502795, 31661132		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	19048457		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	35927326	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	18809239	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	15489961		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	19111481	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	28403136, 29849019, 9433877		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	21847358, 25299780, 26929740, 29565462, 31186753, 31588122		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	27940259		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	31778792		★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23912944, 26418562		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	23912944, 26418562		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	30292829		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	24133193, 24876670, 9152308	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	19625268, 22595380, 29408196, 31328426		★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	25722432		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	30367261		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10942685, 16458279, 16785826, 19307727, 20974241, 22551325, 29216624, 30011214, 30875493		★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	33596205	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	10643694, 10708568, 11067848, 11805193, 14506909, 22910222, 25893742, 30011214, 30072617, 30668316, 30715482, 30831463, 9433877		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	31480263	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16255020, 21031267, 28532672, 30314410, 31287012, 33273889, 8132748	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	28883751, 9433877		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	19330880, 9714356		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10390414, 12754192, 15316498, 15480320, 15482000, 15544595, 17622692, 18489027, 18753249, 26685098, 29249187, 30953868		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	23441755, 37231900, 7858842	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	17627037		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10942685, 16458279, 16785826, 19307727, 20974241, 22551325, 29216624, 30011214, 30875493		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	10942685, 16458279, 16998585, 19122175, 31735164	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	17006983	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30953868		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20615394, 22017396, 29756563		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	31664161, 34790822	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	15817909		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	27601129, 29207118, 29484431		★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	BEFREE	11005569, 20814068		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	10702199, 11005569, 17619937, 23011828, 33441691, 35413817	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	11059772, 14641306, 15269153, 15585388, 16521222, 17222248, 19843025, 20653782, 21325951, 23955118		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	27498419		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	10931458, 11913955, 14687789, 26920155, 30972191		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	20038946	Stimulate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	26609651, 29102659		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	26609651	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10880372, 11827414, 12352459, 12442003, 18617357, 23705854, 24324075, 25109742, 29661728, 31497247, 31775672		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	22972377	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	23580446	Inhibit	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	33596205	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	23894384	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	23180004	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	25142612		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10402236, 11501838, 11912139, 12359744, 12736714, 12740157, 12902864, 14499627, 14648704, 15328200, 15642177, 15741054, 15809733, 15923426, 16287071, 16353170, 16391819, 16480277, 16498361, 16502408, 16507397, 16650963, 16712450, 17156488, 17181859, 17510310, 17542993, 17624587, 18045954, 18498876, 18663571, 18953425, 19241157, 19390242, 19421193, 19428334, 19576865, 19940361, 20033767, 20536410, 20608938, 20676755, 20878073, 21078168, 21310944, 21409596, 21533532, 21655952, 21796157, 21907301, 22242594, 23275522, 24325753, 24402873, 24535190, 24599585, 24789723, 24923427, 24950714, 25323004, 25374215, 25433948, 25511800, 25520137, 25667510, 25733698, 26227474, 26359357, 26416248, 27301070, 27632554, 27835884, 27994517, 27999206, 28056899, 28240006, 28393249, 28486908, 28490464, 28571770, 28639029, 28663087, 28666869, 28709031, 28782484, 28861172, 28927045, 28964785, 29202630, 29250535, 29321644, 29374758, 29491076, 29587668, 29658109, 29661238, 29736687, 29928417, 30051683, 30314513, 30338705, 30469399, 30539699, 30702971, 30970220, 30999962, 31185986, 31289003, 31300611, 31497264, 31524251, 31534346, 31577800, 31623608, 9521170		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	16502408	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12037025, 12784332, 16497869, 16502408, 16570043, 16831226, 17107625, 17181859, 17616393, 17912247, 18087590, 18248671, 18474097, 18953425, 19000652, 19241157, 20608938, 21180996, 24065467, 24599585, 24789723, 24998576, 25511800, 25701047, 25743830, 26456774, 28490464, 29250535, 30469399, 31577800, 32085795, 34702732, 36494710, 36770598, 37169743	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17192687, 21920875, 23762835	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	19632843	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	23470621, 29952221		★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	27984048		★☆☆☆☆ Found in Text Mining only
Bursitis	Bursitis	BEFREE	15726092, 16779827		★☆☆☆☆ Found in Text Mining only
Cancer of Digestive System	Gastric Cancer	BEFREE	20594217		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10666384, 10702199, 10917546, 11228540, 11891209, 14717230, 15075004, 15266333, 15274307, 15328521, 15334675, 15623844, 15736413, 17177652, 17220580, 17624243, 18167131, 18230181, 18311113, 19154413, 19205707, 19208339, 19407554, 19940363, 20200425, 20571967, 20846456, 21150337, 22121107, 22135046, 22534023, 22610150, 23580446, 23620771, 24935598, 24998576, 25301050, 25962348, 30229897, 30900666, 32917645	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10398082, 10471521, 10485483, 10880372, 11196178, 11238189, 11346869, 11788675, 11793368, 11827414, 12468638, 12684668, 12738747, 12740157, 12747975, 12900768, 12912958, 14623934, 15266333, 15642177, 15681840, 15753378, 15947945, 15958546, 16103460, 16362262, 17177652, 17265445, 18094611, 18230181, 19468846, 20025478, 25228975, 27854106, 7926468, 9809985, 9823297		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	16980601	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	22627629, 25301050	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	12037025, 24874483	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	14507645, 15218507, 16778086, 17275129, 21457561, 22941037, 23468978, 23658755, 24675684, 26984380, 29295728, 29425759	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15047734	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	16055866	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	24874483, 25711229, 32980776	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10880372, 11827414, 12352459, 12442003, 18617357, 22634839, 23705854, 24324075, 25109742, 29661728, 31497247, 31775672		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	12782823, 28739688		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11208460, 11320076, 11464289, 12708493, 14604894, 15777967, 15825163, 15829319, 16376453, 17342322, 18164040, 20645029, 21461558, 21678473, 22160576, 22292629, 22696230, 23943857, 24098479, 24337484, 24909729, 25004182, 25047043, 25175164, 25465874, 26452035, 26600514, 26624903, 26744864, 28150906, 28173828, 28709031, 29025423, 29345286, 29408308, 30061230, 30114468, 30131302, 30170377, 30591531, 31231223, 7706493, 9515807		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	21614520	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34638541	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	11920515, 21847358, 22190968	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18384626, 25488950, 25973014, 29956738	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	15461861, 15599594, 16055866, 17220580, 18449376, 18957720, 21598042, 22627629	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22534023, 30900666	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	17024120, 18449376, 21790228, 24083698	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	16596229, 17307204, 17578436, 20051366, 20051370, 22159575, 29775390, 30845292		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11489832, 12615701, 14647459, 14719060, 15269139, 15781636, 18798061, 19621391, 21107726, 21756326, 22025564, 23978451, 24718658, 26320455, 28599493, 29152148, 29324448, 29727350, 29932878, 30647111, 31817839		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	25959673, 9952311		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	24950714, 28695302		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	15061569, 16458279, 18022214, 18768181, 24796340, 28699682, 28863826, 30156911, 30875493		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	17244362, 18768181, 24796340	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23060037	Inhibit	★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid artery thrombosis	Pubtator	32337281	Associate	★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	28666239		★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	30761249		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	25134430		★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	34325999	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	21426319		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	37640115	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	10584847, 23765972		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	23765972, 25957909, 31735164	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	16905570	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	26781425		★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	31735164	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	25957909, 28275651, 28300652		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	19033684, 25957909		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	25957909	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	11156216, 11844819, 17440114, 17578348, 24289600, 24528073, 26881213		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	18565574		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	11156216, 11844819, 17440114, 17578348, 24289600, 24528073, 26881213		★☆☆☆☆ Found in Text Mining only
Chagas Disease	Chagas disease	Pubtator	25957909	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	26984380		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22707305, 28417956		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	22992787		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	11115827, 12213730, 12717864, 17165088, 24839005, 30402042, 31492557	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	11870367, 11910351, 12654561, 12717864, 26125824, 28728977, 29872269		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	23832258		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	20178602, 23523690		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	20178602	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	22828789	Inhibit	★☆☆☆☆ Found in Text Mining only
Chronic eosinophilic leukemia	Eosinophilic Leukemia	BEFREE	29623501		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31076418, 31841390		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22580984		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	15127973, 20522791, 25767384, 28749959, 31632288		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	12892443, 21047437, 22819245, 24267395		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	20042743	Associate	★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	BEFREE	21795050		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	22416915, 25573836		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	29249187		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	22863264, 23954207, 30292829		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	18752821	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30476507		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	19617644, 20361960, 22039321, 28383063, 28494341, 28695925, 9773924		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	11247889, 17653443	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	23529322, 32164249	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10833474, 10866999, 10930401, 10931458, 11114729, 12432918, 14520472, 14675489, 15289320, 15788676, 16489533, 16972245, 17018629, 17459020, 17877615, 18097606, 18320325, 20043083, 21401528, 21668942, 21885812, 22002318, 22170686, 22329897, 22904679, 23580446, 23869759, 24383454, 24998576, 26498686, 26586936, 26609171, 26707712, 27344083, 27368132, 28212885, 28425852, 28454287, 28583134, 28587064, 28657468, 29049411, 29215713, 30570856, 30813251, 30959857, 31100474, 31844085, 9831333		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	17220580	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	25693081, 29257846	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	10557090, 11309440, 15788676, 18790560, 19208339, 19773434, 31617778, 9443907		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	12417326, 14742435, 15723653, 15816542, 17653443, 18032824, 18326857, 19208339, 21071513, 23580446, 37547718	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10398082, 10419916, 10945606, 11062695, 11228540, 11469677, 11687954, 11729113, 11751489, 12353842, 12405290, 12626523, 14585257, 14687789, 14719128, 15013430, 15075004, 15188000, 15285012, 15285921, 15501074, 15816542, 15867236, 15923435, 16343055, 16391837, 16551850, 16818638, 16818642, 16820091, 17151091, 17290397, 17374999, 17594159, 17604853, 18094611, 18230181, 18281498, 18794809, 19075598, 19102009, 19277703, 19307727, 19412621, 19468846, 19571664, 19597346, 19777615, 19887045, 19930591, 20075740, 20514410, 20571967, 20803081, 20846456, 20876365, 21071513, 21205744, 21296766, 21509397, 22049153, 22170686, 22287745, 22614156, 22710400, 23167360, 23300952, 23527044, 23543356, 23810915, 24022467, 24171795, 24194923, 24383454, 24733273, 24889212, 24969885, 24998576, 25422199, 25835114, 26159723, 26498686, 26707712, 27207660, 27806345, 28139497, 28178650, 28260506, 28338176, 28423516, 28449470, 28454270, 28786533, 29037225, 29068698, 29229353, 29339153, 29552221, 29552755, 29580751, 29770434, 29853736, 29873317, 30012671, 30119635, 30183370, 30186819, 30484108, 30720004, 30931980, 31205515, 31540047, 31614548, 31620100, 31797003, 7926468, 9809985, 9850081		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	10419916, 10471521, 10945606, 12494894, 15075004, 16818642, 21158711, 24383454, 30656820		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10917546, 11228540, 11891209, 14520472, 14726653, 14742435, 15075004, 15122305, 15150618, 15173859, 15461861, 15623844, 15723653, 15754389, 15816542, 16055866, 16295777, 17072976, 17278192, 17316360, 17594159, 18032824, 18094611, 18230181, 18636671, 19208339, 19777615, 20026301, 20087348, 20200425, 20846456, 21071513, 21559086, 21668942, 21868755, 22002318, 22376259, 22880157, 23737956, 24022467, 24045388, 24194923, 24383454, 24998576, 25693081, 25835114, 26034355, 26220687, 27040803, 27101738, 27661110, 27888614, 28338176, 28587064, 29257846, 29552755, 29770434, 29853736, 29873317, 30570856, 30720004, 30826660, 30894570, 30931980, 30987352, 31127990, 31244287, 32495637, 32533792, 36235161, 37564983, 37586118	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27368132, 30186819	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28272681, 7926468	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	10486321	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17418864, 18498876		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	23900502, 28728977, 29872269		★☆☆☆☆ Found in Text Mining only
Congenital Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	16240160		★☆☆☆☆ Found in Text Mining only
Congenital secretory diarrhea, sodium type (disorder)	Congenital secretory diarrhea	BEFREE	30091812		★☆☆☆☆ Found in Text Mining only
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	BEFREE	22907529		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	11115075, 18802217, 28569569, 30232741, 30245627, 31015404		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14719128, 15049901, 15569051, 17451187, 25275044, 25973014, 27926489, 28155120		★☆☆☆☆ Found in Text Mining only
Corneal Ulcer	Corneal Ulcer	BEFREE	31073609		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	18385811, 21091235, 21574137, 24513487, 29725388, 31700919		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	18385811, 18989535, 21091235, 21574137, 24513487, 30345832, 31700919		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	18385811, 24796340	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18385811, 21091235, 21574137, 24513487, 31700919		★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	15334675	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	15940133		★☆☆☆☆ Found in Text Mining only
Crisponi syndrome	Crisponi syndrome	Pubtator	38255780	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	18819034, 21124790, 29620794, 9679035		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	10569809, 11196178, 19039588, 30538110		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	16517580, 30177416	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	20720307, 22185734, 30177416		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	Pubtator	18449376	Associate	★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	22634839, 28035695, 30552456, 31375151, 31467580		★☆☆☆☆ Found in Text Mining only
Cystitis Interstitial	Interstitial cystitis	Pubtator	22738385	Associate	★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	30315213, 37640115	Associate	★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	ORPHANET_DG	10205264, 10486321, 11471180, 11558799, 11579424		★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	UNIPROT_DG	10486321		★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	10487525, 18245391, 20812865, 25959673		★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	23256547	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16476713, 20378913, 22114888, 23838114, 25424126, 26505439, 27515563, 27731497, 27751171, 28274742, 28296552, 28482921, 28536229, 28778815, 28983624, 29245931, 29356224, 29385156, 29601910, 29663159, 29691435, 29890262, 29890922, 29930022, 30120508, 30391743, 30707846, 31148341, 31190973, 31495059, 31547612, 31765607, 31775901, 9433877		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	30400733, 30665389		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	16331303		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	12397273, 21655952, 22580182, 28108057, 30526621, 31022424, 31539536		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	20034614, 20588070, 21655952, 22331023, 22580182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	BEFREE	28409880, 28912118		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	31137528		★☆☆☆☆ Found in Text Mining only
Desmoid disease hereditary	Desmoid tumor	Pubtator	23035734	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17192482, 24342014, 29385156, 29511456, 31593087		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17192482, 24342014, 29385156, 29511456, 30498345, 31593087		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	22828168	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	24225501, 34566972	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	10449443, 24204704, 25946000	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24225501	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31076418	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10449443, 14655518, 15041043, 17130490, 25974252		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29385156, 30293595, 30873010, 31076418, 31105125, 31593087		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes-deafness syndrome maternally transmitted (disorder)	Diabetes and Hearing Loss	BEFREE	27422531		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	27121697		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	26822858		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	29626212	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	15461861, 22731119, 24201754	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	19048457		★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	19809523		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31187468		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular disease	Pubtator	24758697	Associate	★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	BEFREE	25666316		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	33418267	Inhibit	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	16288875		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyggve-Melchior-Clausen syndrome	Dyggve-Melchior-Clausen Disease	BEFREE	29974839		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	28330871		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	31378878, 31420920		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	31137528		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	16775385, 28352122		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	30303592	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	11228540, 11592775, 16081631, 18316157		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11957147, 12209724, 15016316, 15067356, 15342458, 15809736, 23453006, 23873111, 24100466, 26468779, 28474124, 29404887, 30168128, 30488858, 31533599		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	11957147		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	21920875	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	11228540, 15598938, 17044934, 17195456, 19154413, 19407554, 23453006, 23873111, 30168128	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25439837	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	19401614, 20068324, 27567427, 31714804		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	12322896, 14998974, 16123052, 17295901, 19299454, 19401614, 20068324, 21145050, 22587873, 22608095, 26153366, 27567427, 27695098, 28281561, 28548231, 28673205, 30402023, 31074246, 31714804		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	15533352, 19299454, 24035605, 25439837, 32311852	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	21145050, 21614520	Stimulate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28017780, 28352122, 30030837, 30484341, 30521407		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30030837, 31948324, 32054883	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	29257846	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	22698689	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19621391, 29324448, 29727350, 29932878, 31817839		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	30484894		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	11410869, 18443952, 23812217, 24206575, 24284961, 26474693, 30535495, 31308688		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	11410869, 18443952, 23812217, 24206575, 24284961, 26474693, 30535495, 31308688		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	12659684, 18632220, 19534809, 21779349, 24284961, 29893307	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	17220580, 18632220, 21926110, 22499122, 25875558, 35413817	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	15249402, 15878911, 16863546, 21451212		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	20811626	Associate	★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	29879283	Associate	★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	28085506		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	16331303		★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	33441691	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	15585388, 15878911, 16521222, 21971589, 22258871, 28102292, 31707149		★☆☆☆☆ Found in Text Mining only
Fatal Familial Insomnia	Fatal Insomnia	BEFREE	27338255		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	15047734	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	31247902, 31282064		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	17331167, 28202625		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	27871023		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	29901153		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	11313976, 23035734, 28851389		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	18503750, 22863264, 24496160, 28259935, 29174446, 30139224		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	15817909, 16362262, 20640858		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	17177652, 26456195, 28521485		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	17177652, 25004291	Associate	★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	11223821, 11448905, 12532441, 17006983, 18330937, 22610150, 27314294, 29767663		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	10487525, 11028754, 11136275, 15599211, 28011266, 29397336		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	10807888, 11076873	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	18825488, 18985541, 24127267, 9773924		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	12645788, 18825488, 26674784, 31320912		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	17619937	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	15585388, 17581270, 24357184, 29948304		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	24717721	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	15334675, 18632220	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	22218775		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	19845533		★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	19587377	Stimulate	★☆☆☆☆ Found in Text Mining only
Genitourinary Cancer	Genitourinary Cancer	BEFREE	12352459		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	21779349, 31162032		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	31162032	Associate	★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	12892443		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	11581208	Inhibit	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	11581208		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15105053, 17640083, 19809523, 22406049, 22992787, 24659686, 26957305, 29137258, 29152086, 29247872, 29719610		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	18346464, 33919029, 33941107	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15105053, 17640083, 22406049, 22986533, 22992787, 24659686, 26957305, 27824617, 29137258, 29152086, 29719610, 30761522		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15361550, 19272160, 19925030, 20406895, 21220497, 21763744, 22406049, 24659686, 26097553, 28800785, 31438982, 31652556		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17447009, 20406895	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	8736403		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30317551		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	10405195, 14694045		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome, Familial	Guillain-Barre Syndrome	BEFREE	10405195		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	12650805, 12912958		★☆☆☆☆ Found in Text Mining only
Hamartomatous polyposis	Hamartomatous polyposis	BEFREE	14623934		★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	BEFREE	9823297		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	15817909		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	34790822	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	17354234, 17624243, 19280666, 29228752		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	11326316, 17624243	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	12037025	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	18802217, 28569569, 30232741, 30245627, 31015404		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	23620771	Associate	★☆☆☆☆ Found in Text Mining only
Hemianopsia	Hemianopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	BEFREE	30303592		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	19757243	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	15218507	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	24496160	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	10419916, 14585257		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	12353842, 17509026		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	17064999, 30349293		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	24294363	Associate	★☆☆☆☆ Found in Text Mining only
Hyperalgesia	Hyperalgesia	Pubtator	17204142	Associate	★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	BEFREE	28212299		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	29413962		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	16458279	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	21478098	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	26202355	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Resistant to Conventional Therapy	Resistant hypertension	Pubtator	18311113	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	15892676, 17641732, 20724703, 23953622, 27814606, 28054752, 28569569, 29698447, 30156911, 30354807, 30477749, 31183001, 31378107		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	23293373, 25279550	Associate	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	29436670		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	12225948, 12401798, 12874281, 15550400, 20151982, 21576240, 26984380	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19390242	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	22170686		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	26922534		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	11980586, 15127973, 23742950, 23755232, 27993290, 9823297		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	23755232	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24473763, 27993290, 7706493	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	27715371		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	17510310		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24342014, 30109938, 30476507		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	22747653	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	11247889, 17653443	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	12702972, 18596194, 20361960, 27508514, 28948903, 30186819, 31184596, 9679035		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	30186819	Inhibit	★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	14735188, 28978083, 31206365		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	28409880, 28912118		★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	28990061		★☆☆☆☆ Found in Text Mining only
Insomnia Fatal Familial	Insomnia	Pubtator	27338255	Inhibit	★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	31257475		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	27600876, 30210652		★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	10668484		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	10666384, 14716842, 17006983, 35413817	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	14738710, 28587496, 30590313		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	15334675	Stimulate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	10668484, 24338666, 9151799		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	15274307, 27342370	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal obstruction	Pubtator	35528155	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	24685329		★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	17530268, 19843025		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	21153458, 29250535		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	31472185		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	30186819		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	30186819	Stimulate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	19485927, 28948649, 31735164, 9616775		★☆☆☆☆ Found in Text Mining only
Isovaleryl-CoA dehydrogenase deficiency	Isovaleryl-CoA dehydrogenase deficiency	BEFREE	26238294		★☆☆☆☆ Found in Text Mining only
Juvenile polyp	Polyp	BEFREE	19124115		★☆☆☆☆ Found in Text Mining only
Juvenile Polyposis Coli	Juvenile polyposis syndrome	BEFREE	27072264		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	20943963		★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	24581331, 24831259		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29676940, 9644630		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	17584101		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28614595, 30084579, 30870859, 31195118		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	15111350	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	24321753, 24374907, 29492204		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	34256950	Stimulate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	38062538	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15368354, 15547942, 21848701, 23320102, 23826975, 26342105, 30674535		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	25957909		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	20599939		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	18234542, 20599939		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	18307244		★☆☆☆☆ Found in Text Mining only
Leydig Cell Tumor	Leydig Cell Tumor	BEFREE	18619641		★☆☆☆☆ Found in Text Mining only
Lhermitte-Duclos disease	Lhermitte-Duclos disease	BEFREE	16261124		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	12738747, 12747975, 17354234, 17595767, 17624243, 18356024, 19278989, 25977924, 29359615		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10632332, 11915030, 12901877, 14507645, 15218507, 16391822, 18443952, 18722373, 19329856, 20515870, 21042835, 21145824, 21801152, 22378232, 23954207, 24675684, 24720952, 24721996, 24759835, 25400773, 25730260, 26081696, 26438136, 26554780, 26851630, 26881519, 26984380, 27109804, 28202625, 28346420, 28802237, 29131381, 29295728, 29505957, 29514844, 29693167, 29725404, 30138716, 30287340, 30346255, 30365092, 30810331, 31059053, 31423564, 31563690, 31628462		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	15047734	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	22863264, 23954207, 28259935, 30292829		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	24496160, 30139224	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	21031267	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	19017995		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23954207		★☆☆☆☆ Found in Text Mining only
Lumbar disc disease	Lumbar Disc Disease	BEFREE	16261124		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	15127973, 20720307, 23742950, 27188849		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	33810600	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	24473763, 30940853	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	12591723, 25909170, 29348400		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	12708493, 18671849, 21150337, 28173828, 35136486	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25047043	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35972968	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30025388, 9644630		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	11161397, 11326316, 12679908, 14716842, 15075004, 28272681	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	12037025, 12854133, 15461861, 15754411, 24019861, 29873317, 37547718	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	20608938, 22735610		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22670565, 24637636		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28108057, 31214060		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Central Nervous System Neoplasm	Malignant neoplasm of the central nervous system	BEFREE	25134430		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	21220497		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	17354234, 17624243, 19280666, 29228752		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	22095628		★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	31063993		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10402236, 10569809, 11501838, 11912139, 12359744, 12736714, 12740157, 12902864, 14499627, 14648704, 14735188, 15642177, 15741054, 15809733, 15923426, 16287071, 16353170, 16391819, 16480277, 16498361, 16507397, 16650963, 16712450, 17156488, 17181859, 17510310, 17542993, 17624587, 18045954, 18498876, 18663571, 18953425, 19241157, 19390242, 19421193, 19428334, 19576865, 19940361, 20033767, 20536410, 20608938, 20676755, 20876365, 20878073, 21078168, 21310944, 21533532, 21655952, 21796157, 21813027, 21907301, 22242594, 23275522, 24325753, 24402873, 24535190, 24599585, 24789723, 24923427, 24950714, 24998576, 25323004, 25374215, 25433948, 25511800, 25520137, 25667510, 25733698, 26227474, 26359357, 26416248, 27301070, 27632554, 27835884, 27994517, 27999206, 28056899, 28240006, 28393249, 28486908, 28490464, 28571770, 28639029, 28663087, 28666869, 28709031, 28782484, 28861172, 28927045, 28964785, 29202630, 29250535, 29321644, 29374758, 29491076, 29587668, 29596308, 29658109, 29661238, 29736687, 29928417, 30314513, 30338705, 30469399, 30539699, 30702971, 30970220, 30999962, 31185986, 31289003, 31300611, 31497264, 31524251, 31534346, 31577800, 31623608, 9521170		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	11957147, 15016316, 15067356, 15342458, 23873111, 24100466, 26468779, 30168128, 31533599		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	11410869, 18443952, 23812217, 24206575, 24284961, 26474693, 30535495, 31308688		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	26456195		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	12664575, 15574495, 16712734, 17691999, 18632220, 28405152, 29982219, 8931116		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	28155120		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	12782823, 28739688		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	11915030, 18722373, 21800055, 22340386, 24969885, 26984380, 28728977, 31191326		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11208460, 11320076, 11464289, 12708493, 14604894, 15777967, 15825163, 15829319, 16376453, 17342322, 18164040, 21461558, 21678473, 22160576, 22292629, 22696230, 23943857, 24098479, 24337484, 24909729, 25004182, 25047043, 25175164, 25465874, 26452035, 26600514, 26624903, 26744864, 28150906, 28173828, 28709031, 28979299, 29025423, 29345286, 29408308, 30061230, 30114468, 30131302, 30170377, 30591531, 31231223, 7706493, 9515807		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	12738747, 12747975, 17354234, 17595767, 17624243, 18356024, 19278989, 25977924, 29359615		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11489832, 12615701, 14647459, 14719060, 15269139, 15781636, 18798061, 21756326, 22025564, 23978451, 24718658, 26320455, 28599493, 29152148, 30647111		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10485483, 10953335, 14517802, 16481301, 16807445, 17131340, 17921715, 18437081, 20530583, 21408027, 22503318, 22829202, 22898640, 23973710, 24520096, 24969885, 25497868, 26035123, 26691217, 27368132, 27974694, 28260499, 28352075, 29565462, 31355777		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11289153, 11913955, 12386924, 14613585, 14687789, 14754878, 15550400, 15878913, 16506214, 16954428, 17066444, 17265445, 17609663, 18030357, 18089846, 18645679, 18974063, 19772879, 19776642, 19836060, 19965896, 20431935, 21273602, 21430074, 22023987, 22435969, 23053989, 23646189, 24155892, 24802614, 24970799, 26788504, 27232854, 28368394, 28450158, 28941222, 29242151, 29765153, 30012567, 30367494, 30673592, 9766645		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	12370831, 17488409, 24469308, 25320180, 29156646, 29568008, 31571864, 9635856		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10945606, 11192946, 11223821, 11535962, 11606854, 12203123, 12684668, 12695555, 12746473, 14532971, 15245777, 15334675, 15692787, 15890232, 15914275, 16082585, 16097070, 16949912, 17982644, 18214026, 18311113, 18611916, 18618313, 18985541, 19201083, 19940363, 20364406, 20649594, 21086572, 21266034, 21538574, 21976141, 22385256, 23670240, 24014049, 24127267, 24308961, 24533777, 24935598, 25038797, 26067133, 26514342, 26674784, 27079437, 27352184, 29151957, 29358963, 29616098, 29767663, 30003735, 30391440, 30941969, 31473273, 31534549		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	11788675, 31113934		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10880372, 11827414, 12352459, 12442003, 18617357, 23705854, 24324075, 25109742, 29661728, 31497247, 31775672		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10487525, 10797288, 10953335, 11192946, 11208460, 11238189, 11289153, 11410869, 11448905, 11501838, 11751489, 11788675, 11823979, 11827414, 12102579, 12615701, 12900768, 14499627, 14519750, 14555660, 14594546, 14640580, 14640918, 14965325, 14965326, 14967078, 15049901, 15217498, 15285921, 15300574, 15326482, 15328200, 15455372, 15704107, 15788676, 15825163, 15979837, 16101131, 16326109, 16391837, 16413466, 16908593, 17222248, 17265445, 17354234, 17594159, 18094611, 18164040, 18311113, 18443952, 18498876, 18596194, 18953425, 18985541, 19048457, 19075598, 19272160, 19421193, 19669667, 19748095, 19965896, 20015407, 20178602, 20392831, 20530583, 20615394, 20876365, 20943963, 21078168, 21205744, 21375766, 21401528, 21430074, 21478098, 21678473, 21734230, 21793834, 21968189, 21981137, 22200969, 22258871, 22682129, 22904679, 23105117, 23289871, 23427297, 23580446, 23812217, 23869759, 24023834, 24308961, 24383454, 24402873, 24438088, 24589238, 24659686, 24950702, 24969885, 25275044, 25964576, 26004412, 26134824, 26343742, 26359357, 26554780, 27020655, 27104313, 27109804, 27145282, 27512995, 27570080, 27894402, 27991692, 28053596, 28157665, 28202625, 28231855, 28240006, 28277128, 28283800, 28400769, 28490464, 28560423, 28586004, 28666869, 28948694, 28971779, 28978083, 29081218, 29109117, 29137258, 29163789, 29180467, 29235601, 29492489, 29514844, 29565462, 29578814, 29661238, 29661728, 29715103, 29853604, 29968808, 30027502, 30031652, 30082676, 30108767, 30149323, 30223141, 30318526, 30341914, 30674535, 30701538, 30747998, 30877972, 30943209, 31132600, 31231223, 31382305, 31562745, 31586705, 31726219, 9823297		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	12698187		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	11156216, 11844819, 17440114, 17578348, 24289600, 24528073, 26881213		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10866999, 10930401, 11114729, 12432918, 14520472, 14675489, 15788676, 16489533, 16972245, 17018629, 17459020, 17877615, 18097606, 20043083, 20654727, 21401528, 21668942, 21885812, 22002318, 22329897, 22904679, 23869759, 24383454, 24998576, 26498686, 26586936, 26609171, 26707712, 27368132, 28212885, 28425852, 28454287, 28583134, 28587064, 28657468, 29049411, 29215713, 30570856, 30813251, 30959857, 31100474, 31844085, 9831333		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11501838, 17542993, 19895368, 21078168, 24590894, 26416248, 27000374, 28666869		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	29187826, 29483877		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	12596060		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	18045954, 19940361		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22707305, 28417956		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	17499752		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11196178, 17499752, 18202806, 18722548, 19039588, 19724275, 19747926, 21384343, 22850568, 23112250, 25060715, 26547585, 27010501, 27769779, 28231855, 28386327, 28865485, 28899685, 29978476, 30538110, 30800067, 31497264		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15251468, 15526363, 16980601, 19724275, 20032377, 20974686, 21268068, 21738696, 22022384, 22685558, 22850568, 25000190, 27235711, 28231855, 32967672	Associate	★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	15965049, 7684581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELAS Syndrome	MELAS Syndrome	ORPHANET_DG	18245391		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELAS Syndrome	MELAS Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	BEFREE	17961045, 20054806		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	12397273, 21655952, 22580182, 28108057, 30526621, 31022424, 31539536		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	19356723, 20034614, 20588070, 21655952, 22580182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	31214060		★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	15965049		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	22110764		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	17499752, 19724275, 29978476		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	15546262, 23357220		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	10205264, 22411789, 23256547, 25844556, 26669719, 28521807, 30315213, 34325999, 37640115, 38286121	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	11558799, 28521807		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	20660112	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33097606	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	10205264		★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	10205264	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	LHGDN	15965049		★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	23841600		★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	15461861, 17595767, 20647315, 26662963, 29037125	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	30321073		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	11535962		★☆☆☆☆ Found in Text Mining only
Multiple lipomata	Multiple Lipomata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17588340		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26724804, 36262053	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17373929, 21795050, 29022246		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	30292675		★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	26138249		★☆☆☆☆ Found in Text Mining only
MYD88 Deficiency	MYD88 Deficiency	BEFREE	30317551		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	23475051		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	11849212, 23320102	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	15147372	Inhibit	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	15117884, 15664882, 18385811, 18991687, 19748095, 29030657, 30145840		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	17244362, 31833800	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	12881220		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	26305786, 30257377		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	15965049		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	10912924, 21795050, 28330871, 30315213		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	16288875		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	18094001	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	10390414, 11994707, 15480320, 17141086		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	16517580, 19251796, 23441755	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18758376, 25060857, 26261650, 28301518, 28732079, 29956730, 30038488, 30082142, 30087034, 30314699, 31298328		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	24845412, 24854838, 26261650, 26547585, 28732079	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	24210203		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	24210203, 31490357		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10471521, 10485483, 10630643, 10668484, 10945606, 11192946, 11208460, 11223821, 11306496, 11313976, 11320076, 11326316, 11370818, 11448905, 11469677, 11489832, 11501838, 11535962, 11571629, 11595687, 11602250, 11687965, 11751489, 11772947, 11827414, 11844819, 11920472, 11945149, 11957147, 11980643, 12024286, 12197220, 12209724, 12353842, 12386924, 12393863, 12405290, 12432918, 12470662, 12494894, 12532441, 12591723, 12626523, 12698187, 12708493, 12782823, 12811209, 12821346, 12875991, 14508834, 14532971, 14616542, 14627349, 14640918, 14647459, 14719060, 14735188, 14754878, 14965327, 15014019, 15049901, 15067356, 15075004, 15285921, 15328200, 15328521, 15342458, 15455346, 15550400, 15569051, 15582199, 15704107, 15781636, 15788676, 15825163, 15867236, 15923435, 15947945, 16343055, 16391819, 16551850, 16552798, 16596229, 16650963, 16712734, 16724692, 16818638, 16818642, 16984727, 17177652, 17290397, 17309668, 17342322, 17510310, 17624243, 17710160, 17875728, 17921715, 17948911, 17982644, 18230181, 18338835, 18356024, 18367112, 18617357, 18618313, 18619641, 18665070, 18722373, 18722548, 18790560, 18794809, 18834948, 18953425, 19003584, 19039588, 19048457, 19244345, 19277703, 19307727, 19329856, 19375854, 19391129, 19470469, 19773434, 19845533, 20004133, 20043093, 20051370, 20068092, 20145612, 20514441, 20536410, 20571967, 20599447, 20699280, 20876365, 20951077, 21078168, 21220497, 21375766, 21384343, 21408027, 21459756, 21567098, 21668942, 21849808, 21907301, 21935918, 22049153, 22122764, 22218775, 22242594, 22258871, 22348039, 22378232, 22735610, 22829202, 22904679, 22992293, 23031678, 23035734, 23043547, 23112250, 23180004, 23192657, 23220503, 23226427, 23271799, 23371504, 23536473, 23617728, 23741443, 23762835, 23810915, 23812217, 24171795, 24187465, 24300090, 24413338, 24416158, 24469308, 24533777, 24599585, 24670538, 24763687, 24842612, 25060857, 25297608, 25333664, 25449785, 25575894, 25701047, 25797267, 25964576, 26159723, 26238294, 26275572, 26452035, 26474693, 26498686, 26577687, 26823693, 26925549, 26984380, 27074576, 27109804, 27388564, 27422817, 27628320, 27632554, 27696591, 27713126, 27835884, 27999206, 28031408, 28096371, 28102676, 28150906, 28161224, 28178650, 28202625, 28260506, 28346420, 28417956, 28454270, 28512631, 28729694, 28732079, 28782484, 28789345, 28807001, 28808873, 28978083, 29087320, 29238224, 29257333, 29359615, 29482584, 29491076, 29492204, 29505957, 29520973, 29559247, 29568008, 29568362, 29631612, 29661728, 29715103, 29736687, 29775390, 29893307, 30012567, 30341914, 30384258, 30402808, 30484108, 30638861, 30641217, 30715649, 31063976, 31092422, 31113465, 31355777, 31366361, 31562254, 31570459, 31614548, 31623608, 31733286, 31761163, 7926468, 9515807, 9521170, 9731479, 9927047		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	10959556		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	21431899		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	31416888		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	28068952	Associate	★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	29416648		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11032891, 17204142, 21268077, 30541014, 9726429		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	11032891	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	15492235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	37640115	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19729484, 29968808, 9726429		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	30420588		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	29416648		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	29879283	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10815926, 11062695, 11320076, 11555578, 11850726, 11882767, 14597555, 14744769, 14967078, 15068324, 15704107, 15777970, 15825163, 16376453, 16786043, 17948911, 18957720, 19238334, 19628293, 20047843, 20234816, 20332326, 21385353, 21388528, 21507199, 21565488, 23065687, 23371504, 23620771, 24401319, 25113252, 25137041, 25449785, 25975224, 26045835, 28800793, 28883751, 29140138, 29440919, 29982425, 30061230, 30798928, 31115011, 31134158, 31611604, 31613929, 31665187		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	11912139, 14735188, 24874483, 31206365		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	22170686		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11444591, 29773671, 31247902, 31500176		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19154413, 22576212, 27124181, 30661603	Associate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	25621687	Stimulate	★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	22992787		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	16418878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	18234542, 26369479		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	26369479	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	36426368	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	15334463, 15731292, 26560022, 27515563, 30261513, 33273889, 36157214	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20517696	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	33407301	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	32912331	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	20378913, 28546767, 30205824, 30585984		★☆☆☆☆ Found in Text Mining only
Osteoarthropathy, Primary Hypertrophic	Pachydermoperiostosis syndrome	BEFREE	31063976		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	19331686		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	19331686	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29061958		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	16289620, 16818639, 16956425, 20876365, 20926002, 21236332, 21375766, 28053596, 29884091, 30761249, 31485669		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	16822878, 18797196	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	14647459, 14719060, 15269139, 23978451		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	15266333	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian hyperstimulation syndrome	Pubtator	27539669	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11489832, 12615701, 15266333, 15781636, 18798061, 21756326, 22025564, 23978451, 24718658, 26320455, 28599493, 29152148, 30647111		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18314621		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15347673, 16328030, 16612714, 22025564, 25973134, 26320455, 29482584, 30377203	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10485483, 10953335, 14517802, 16481301, 16807445, 17131340, 17921715, 18437081, 21408027, 21655952, 22503318, 22829202, 22898640, 24520096, 24969885, 25497868, 26035123, 26691217, 27368132, 27974694, 28260499, 28352075, 29565462, 31355777		★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	BEFREE	31009406		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31186753		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	30254182		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18000398, 19820419, 20530583, 24796733, 31355777	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23973710, 27368132	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	11920515	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	15475935, 15817909, 16728574, 19391129, 20640858, 23617728, 24670538, 28521457, 28730569		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	20599447, 24469308		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10863545, 26722563, 28369131, 29169114, 30236122		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27628320	Stimulate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	38255780	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	30333153		★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	34151841	Associate	★☆☆☆☆ Found in Text Mining only
Peptic Esophagitis	Peptic Esophagitis	BEFREE	17581270, 21451212		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	18330937, 30366771		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic ulcer disease	Pubtator	18330937	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	10769133, 24551049, 28736819, 9660336		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	20042743, 24551049, 28736819	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	22828789	Stimulate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	12892443, 18173398, 20177132, 29287688, 29514641		★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	12650805, 12912958, 14623934		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	32171274	Stimulate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	30671914		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29602230, 30498475		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29393449		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	16331303		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	17671709		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	23900502		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10931458, 11289153, 11913955, 12386924, 14613585, 14687789, 14754878, 15455372, 15550400, 15878913, 16506214, 16954428, 17066444, 17265445, 17609663, 18030357, 18089846, 18645679, 18974063, 19772879, 19776642, 19836060, 20431935, 21273602, 21430074, 22023987, 22435969, 23053989, 23646189, 24155892, 24802614, 24970799, 26788504, 27232854, 28368394, 28450158, 28941222, 29242151, 29765153, 30012567, 30367494, 30673592, 9766645		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic disease	Pubtator	30402808	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	33148606	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	17265445		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10484067, 12401798, 15655565, 15899813, 16123581, 17881290, 18030357, 22593181, 23342084, 23515290, 23646189, 23922175, 24970799, 25305352, 26788504, 27232854	Associate	★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	BEFREE	19776642, 30892130, 31376214		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	20538798, 31480263	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	29537306		★☆☆☆☆ Found in Text Mining only
Psychotic episodes	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	22219642		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	20522791, 25943190, 26926362, 30390648	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	11290559, 17496151, 23755232, 30784938, 31646730		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	11290559	Associate	★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	22907529		★☆☆☆☆ Found in Text Mining only
Recurrent depressive disorder	Mental Depression	BEFREE	24388097		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	28155120		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14719128, 15049901, 15569051, 17451187, 25275044, 25973014, 27926489, 28155120		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	20471507, 29676940		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	26685098		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	26685098		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	30961940	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	26822858, 27422531, 29158916		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	15709205		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	15120641		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10708568, 12794822, 15256475, 20887233, 21360527, 21655952, 22114888, 22592909, 22910222, 22990668, 23872401, 23934131, 26130073, 26505439, 28165872, 28288820, 28863826, 30119183, 30143947, 30186500, 30314410, 30668267, 30718447, 31593087, 31747811, 8132748, 9433877		★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	30146165		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	24768588	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	27188849		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	30502795		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	23936513	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22397921		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	11469463		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	24473763	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32054883	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	29416648		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	21967897, 29782861, 31070531		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	11122255	Associate	★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	17578436, 21995456, 22159575, 25616102		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	28966510		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	11980643, 20599447, 25575894, 31571864, 9635856		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	29568008	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28676625		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	11062695, 9823297		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	15330186	Associate	★☆☆☆☆ Found in Text Mining only
Spinal stenosis of lumbar region	Spinal Stenosis Of Lumbar Region	BEFREE	31306980		★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spontaneous pneumothorax	Spontaneous pneumothorax	BEFREE	15127973		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10778945, 11920472, 12121007, 12698187, 14976535, 15068324, 15704107, 16219633, 18234542, 19229701, 19391123, 20514441, 20620096, 20951077, 22159575, 24345644, 24371223, 24469308, 25575894, 26009874, 26022894, 26369479, 26577687, 27628320, 30248985, 30270026, 30511628, 9635856, 9823297		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	15259059, 17460548, 17511025, 18197933, 18632220, 19347867, 19428370, 19463183, 19538012, 24284961, 24535229, 26133979, 26959737, 27868288, 28888039		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	12875991	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	15461861, 19241124, 20951077, 22828609, 23179937, 23790336, 24019861, 25962348, 26369479, 27628320, 30900666, 31759370, 39459468	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	31570459		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	10797288, 17578436, 23261444, 29904102		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	12393863, 15814624, 16273222, 16533782, 20034753, 20592893, 20951077, 24887090, 26238294, 27412115, 27696591, 31244433		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	11823979		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	27614428		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28987270, 29380527		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	25451254, 29515134, 31247902, 31282064		★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	BEFREE	25218594		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11192946, 11223821, 11346869, 11535962, 11606854, 12203123, 12684668, 12695555, 12746473, 14532971, 15245777, 15334675, 15692787, 15890232, 15914275, 16082585, 16097070, 17982644, 18214026, 18311113, 18611916, 18618313, 18985541, 19201083, 19940363, 20364406, 20649594, 20653782, 21086572, 21266034, 21538574, 21976141, 22385256, 23670240, 24014049, 24127267, 24308961, 24533777, 24935598, 25038797, 25228975, 26067133, 26514342, 26674784, 27079437, 27352184, 29151957, 29358963, 29616098, 29767663, 30003735, 30391440, 30941969, 31473273, 31534549		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	14716842	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	11161397, 11192946, 12679908, 12695555, 12746473, 12854133, 14716842, 15274307, 15754411, 16101131, 16295777, 17006983, 17043422, 18311113, 18330937, 19940363, 24014049, 24222951, 24935598, 25003256, 25038797, 25884934, 25910300, 26674784, 27198692, 27342370, 31835645, 34122616	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15334675	Stimulate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	25957909, 28068952	Associate	★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	BEFREE	18388159		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	11469463		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	30188221		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	12470662, 30272315, 31375151		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	30251689, 30530228		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	15591227	Stimulate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	32337281	Associate	★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	BEFREE	16823844		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	16823844		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	25342622		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	24670538, 33469997, 36444921	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	11788675, 16362262, 31113465, 31113934		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	15817909, 16362262		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	11788675, 31113934		★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	11788675		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	34790822	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	BEFREE	20043093		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Total Hypotrichosis, Mari type	Hypotrichosis	BEFREE	22123288		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	29736687		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	10880372, 21790228, 30272315, 31179232		★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	BEFREE	26337933		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29596308		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35268073	Stimulate	★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	28123555		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	29384235, 30303592		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	10980113, 18819034, 19617644, 20803508, 22039321, 23529322, 25666316, 28260017, 29080614, 29620794, 30082707, 30190207, 30489199, 9679035		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	15947945		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	31214060		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	17220580	Stimulate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	10880372, 19682434, 32596945	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	10880372, 29661728		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	25875558	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	12468638, 40095474	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	21424032, 24289600, 24528073	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	19299454, 24035605	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	29901153		★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	17044934	Associate	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	28420140, 29765489		★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	29623501		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	15191401		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	20424334		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	29408903		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	19004621, 21625016, 29094684		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	21625016	Associate	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	19004621, 21625016, 29094684		★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	11772947		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	22992787		★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	BEFREE	10651981		★☆☆☆☆ Found in Text Mining only