POMC (proopiomelanocortin)

Gene

• Entrez ID: 5443
• Gene name: Proopiomelanocortin
• Gene symbol: POMC
• Synonyms (NCBI Gene): ACTH, CLIP, LPH, MSH, NPP, OBAIRH, POC
• Chromosome: 2
• Chromosome location: 2p23.3
• Summary: This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depe

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28932472	G>C	Risk-factor, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121918111	C>A,G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121918112	T>A	Pathogenic	Stop gained, coding sequence variant
rs746815510	->CACCCGAGGGGCCCCCGAGGGCCCC	Pathogenic	Coding sequence variant, frameshift variant
rs753856820	G>T	Pathogenic	5 prime UTR variant
rs757720012	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs781244602	C>T	Pathogenic	Coding sequence variant, stop gained
rs796065034	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs796065035	->CC	Pathogenic	Frameshift variant, coding sequence variant
rs1553400259	T>G	Pathogenic	Splice acceptor variant
rs1558628852	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1573250294	->T	Pathogenic	Coding sequence variant, stop gained
rs1573254045	G>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005899	hsa-miR-488-3p	Luciferase reporter assay, Microarray	21168126
MIRT017417	hsa-miR-335-5p	Microarray	18185580
MIRT735745	hsa-miR-383-3p	Luciferase reporter assay, qRT-PCR	31847355
MIRT735746	hsa-miR-384	Luciferase reporter assay, qRT-PCR	31847355
MIRT005899	hsa-miR-488-3p	Luciferase reporter assay, qRT-PCR	31847355

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IBA
GO:0001664	Function	G protein-coupled receptor binding	IDA	19452503
GO:0005102	Function	Signaling receptor binding	IMP	9620771
GO:0005179	Function	Hormone activity	IEA
GO:0005179	Function	Hormone activity	IMP	9620771
GO:0005179	Function	Hormone activity	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	9620771
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005777	Component	Peroxisome	IDA	20810565
GO:0005782	Component	Peroxisomal matrix	IDA	20810565
GO:0006091	Process	Generation of precursor metabolites and energy	IMP	9620771
GO:0007165	Process	Signal transduction	IMP	9620771
GO:0007218	Process	Neuropeptide signaling pathway	IEA
GO:0007267	Process	Cell-cell signaling	IMP	9620771
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	ISS
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0019722	Process	Calcium-mediated signaling	ISS
GO:0030141	Component	Secretory granule	IBA
GO:0030141	Component	Secretory granule	IEA
GO:0030141	Component	Secretory granule	ISS
GO:0031640	Process	Killing of cells of another organism	IDA	10670585
GO:0031781	Function	Type 3 melanocortin receptor binding	IPI	19743876
GO:0031782	Function	Type 4 melanocortin receptor binding	IPI	19743876
GO:0032098	Process	Regulation of appetite	IMP	9620771
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IDA	10233018
GO:0033059	Process	Cellular pigmentation	IMP	9620771
GO:0034774	Component	Secretory granule lumen	TAS
GO:0035821	Process	Modulation of process of another organism	IMP	10670585
GO:0042593	Process	Glucose homeostasis	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18292087
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	10670585
GO:0070873	Process	Regulation of glycogen metabolic process	IEA
GO:0070965	Process	Positive regulation of neutrophil mediated killing of fungus	IDA	10670585
GO:0070996	Function	Type 1 melanocortin receptor binding	IDA	18292087
GO:0070996	Function	Type 1 melanocortin receptor binding	IPI	19743876
GO:0106071	Process	Positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0106071	Process	Positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS
GO:0140668	Process	Positive regulation of oxytocin production	IEA
GO:1990680	Process	Response to melanocyte-stimulating hormone	IEA
GO:1990680	Process	Response to melanocyte-stimulating hormone	ISS
GO:2000852	Process	Regulation of corticosterone secretion	IBA
GO:2000852	Process	Regulation of corticosterone secretion	IEA

Other IDs

• MIM: 176830
• HGNC: 9201
• e!Ensembl: ENSG00000115138

Protein

• UniProt ID: P01189
• Protein name: Pro-opiomelanocortin (POMC) (Corticotropin-lipotropin) [Cleaved into: NPP; Melanotropin gamma (Gamma-MSH); Potential peptide; Corticotropin (Adrenocorticotropic hormone) (ACTH); Melanocyte-stimulating hormone alpha (Alpha-MSH) (Melanotropin alpha); Cortic
• Protein function: [Corticotropin]: Stimulates the adrenal glands to release cortisol.; [Melanocyte-stimulating hormone alpha]: Anorexigenic peptide. Increases the pigmentation of skin by increasing melanin production in melanocytes.; [Melanocy
• PDB: 4XNH, 4XPD, 4Y49, 6TUB, 7F53, 7F54, 7PIV, 8F7Q, 8INR, 8IOC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08384	NPP	27 → 70	Pro-opiomelanocortin, N-terminal region	Family
  PF00976	ACTH_domain	74 → 91	Corticotropin ACTH domain	Family
  PF00976	ACTH_domain	136 → 155	Corticotropin ACTH domain	Family
  PF00976	ACTH_domain	218 → 236	Corticotropin ACTH domain	Family
  PF08035	Op_neuropeptide	237 → 264	Opioids neuropeptide	Family

• Tissue specificity: TISSUE SPECIFICITY: ACTH and MSH are produced by the pituitary gland.
• Sequence:

  MPRSCCSRSGALLLALLLQASMEVRGWCLESSQCQDLTTESNLLECIRACKPDLSAETPM
  FPGNGDEQPLTENPRKYVMGHFRWDRFGRRNSSSSGSSGAGQKREDVSAGEDCGPLPEGG
  PEPRSDGAKPGPREGKRSYSMEHFRWGKPVGKKRRPVKVYPNGAEDESAEAFPLEFKREL
  TGQRLREGDGPDGPADDGAGAQADLEHSLLVAAEKKDEGPYRMEHFRWGSPPKDKRYGGF
  MTSEKSQTPLVTLFKNAIIKNAYKKGE

• Sequence length: 267

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Obesity	Likely pathogenic; Pathogenic	rs2149220092, rs753856820	RCV001823844 RCV002482865	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity due to pro-opiomelanocortin deficiency	Pathogenic	rs2465563629, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs1553400259, rs1573250294, rs1573254045	RCV002285116 RCV000014281 RCV000014282 RCV000014283 RCV000014285 RCV000014286 RCV000500140 RCV000825007 RCV000825008	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POMC-related disorder	Pathogenic	rs746815510, rs781244602	RCV004533292 RCV004735782	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMNESIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMNESTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS, SUBVALVULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, GOUTY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BODY WEIGHT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BODY-WEIGHT TRAJECTORY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRADYCARDIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATALEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL HEMORRHAGE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL PALSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDROCALCINOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDROCALCINOSIS DUE TO DICALCIUM PHOSPHATE CRYSTALS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONSTIPATION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTOGENIC WEST SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES INSIPIDUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF EYE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDERS INVOLVING THE IMMUNE MECHANISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSIES, MYOCLONIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, TONIC-CLONIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE PAIN	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL PARALYSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATURIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCIURIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited obesity	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, ACUTE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LONG QT SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic Non-Syndromic Obesity	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIA GRAVIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCLONIC EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NAUSEA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity, early-onset, susceptibility to	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENILE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY-DEPENDENT CUSHINGS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POTASSIUM DEFICIENCY DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SACROILIITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALAAM SEIZURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICK SINUS SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNOVITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONIC-CLONIC EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY TRACT INFECTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY TRACT INFECTIONS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEST SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
11-Beta-hydroxylase deficiency	11-beta-hydroxylase deficiency	BEFREE	6244328		★☆☆☆☆ Found in Text Mining only
3 beta-Hydroxysteroid dehydrogenase deficiency	3 beta-hydroxysteroid dehydrogenase deficiency	BEFREE	11344940, 12050224, 3029158, 7651769, 8077318, 8923844		★☆☆☆☆ Found in Text Mining only
46, XY Disorders of Sex Development	46, XY disorder of sex development	BEFREE	24405868		★☆☆☆☆ Found in Text Mining only
Aarskog syndrome	Aarskog Syndrome	BEFREE	11592568, 12110946, 15673970, 17161331, 18059087, 18492762, 19423561, 19558534, 19773404, 19795005, 21274326, 21701219, 23279877, 23708259, 24224542, 26548497, 29678289, 30817990, 31189126, 8069303, 9550364		★☆☆☆☆ Found in Text Mining only
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	28865461	Associate	★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	31505284, 31801917		★☆☆☆☆ Found in Text Mining only
ACTH Deficiency, Isolated	ACTH Deficiency	BEFREE	22170728, 23649472, 31513261		★☆☆☆☆ Found in Text Mining only
ACTH Syndrome, Ectopic	Ectopic ACTH secretion syndrome	BEFREE	11075732, 11932296, 15239795, 15845926, 16382005, 18075284, 20015838, 2536890, 26643914, 2845257, 29587720, 30232300, 30392451, 30918166, 8396510, 8800643, 9437242, 9466324		★☆☆☆☆ Found in Text Mining only
ACTH Syndrome, Ectopic	Ectopic ACTH secretion syndrome	CTD_human_DG	1459535, 2844640, 4367732, 8562174		★☆☆☆☆ Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	BEFREE	11994328, 12670039, 12727968, 15666794, 16756677, 16772347, 19833579, 20660048, 20924687, 24700472, 28226363, 29279458, 29357735, 29685132, 30557981, 30911452, 30915117, 31119141, 31208392, 31747461, 8077378		★☆☆☆☆ Found in Text Mining only
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2	Acth-independent macronodular adrenal hyperplasia	BEFREE	25472909, 27212135, 29279458		★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	10926317, 12843142, 1327071, 14558669, 14671214, 15817922, 17718852, 18075284, 19318729, 19423561, 20385723, 21356276, 24081741, 24926820, 25011056, 25517869, 25665180, 25942478, 26208471, 27220856, 27894193, 28522647, 29189371, 29442480, 30093687, 30483918, 31583577, 7699217, 8383976, 8626831, 8636444, 9466324, 9768675		★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	LHGDN	18057378		★☆☆☆☆ Found in Text Mining only
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	182497		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	17216604		★☆☆☆☆ Found in Text Mining only
Acute Kidney Tubular Necrosis	Renal tubular necrosis	CTD_human_DG	4358912, 6254450		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	9790276		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	14557433, 19998238, 22587831, 22753300, 23073554, 23859637, 27341314, 27468060, 27535620, 28780517, 28784879, 29280740, 29390437, 29858905, 30084678, 30086866, 30383218, 30850564, 31235078, 31289154, 31453876, 7758515, 9466324, 9745416		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	30314823		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10404841, 10426565, 10984631, 11048804, 11095488, 11174837, 11288760, 11420487, 11422110, 11422113, 11443173, 11557786, 11579683, 11932334, 12011941, 12358136, 12379758, 12843181, 1424185, 15001630, 15372367, 15803804, 16061826, 16087722, 16483181, 16551736, 16603725, 16832584, 17250952, 17420609, 17761887, 18058237, 18228160, 20385723, 20459557, 20829611, 20960104, 21270509, 2153197, 2167013, 21912092, 22105169, 22259056, 24007691, 24081741, 24085685, 25517869, 25871963, 26578638, 26695862, 26792934, 27215912, 27561203, 28170483, 28432562, 28452619, 2846798, 28528397, 28532906, 28850717, 28865461, 28872159, 28994039, 29219752, 29395172, 29574220, 29620167, 29685132, 29749277, 29754635, 29858852, 29927501, 2997296, 30084836, 30397189, 30601318, 30637623, 31053487, 31074783, 31432313, 7883846, 7883977, 7923822, 7989495, 8008746, 8263325, 8370688, 8530610, 8890999, 9177416, 9360550, 9609310, 9851770, 9861319		★☆☆☆☆ Found in Text Mining only
Adrenal Cancer	Adrenal Cancer	BEFREE	28179447		★☆☆☆☆ Found in Text Mining only
Adrenal Cortex Diseases	Adrenal Cortex Diseases	CTD_human_DG	11370731		★☆☆☆☆ Found in Text Mining only
Adrenal Cortex Diseases	Adrenal Cortex Diseases	BEFREE	30366345		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	11420487, 11701665, 11994328, 15001630, 19915020, 24700472, 29523633		★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	10951524, 11062474, 11196451, 11914417, 14557433, 16390921, 16937455, 19998238, 20051279, 20499090, 21190981, 21399389, 218453, 21990131, 22968487, 25062464, 27341314, 27468060, 27798546, 27906547, 28395280, 28572228, 28784879, 28915118, 29181760, 29458002, 29476665, 29531158, 29572711, 29806602, 29858905, 30120786, 30694073, 31164167, 31217401, 31225874, 31291617, 31320899, 31453876, 31461355, 31535345, 31567142, 31597820, 31738804, 6164756, 9062496, 9745416		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Diseases	Adrenal Gland Diseases	BEFREE	31570632		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	19636197, 25970792, 29678284, 31058960		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	12466368, 14557423, 26700559, 27699708, 2844181, 2845257, 29760304, 30214591, 31434676, 3488930, 3596003, 3784778, 6952189, 7921204		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	BEFREE	10927053, 11196462, 12518247, 15705925, 192874, 6271801, 8038906, 9666866		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	10536001, 11073721, 19581669, 21646284, 24884994, 29429410, 32570972, 34486698, 36545328, 37935047	Associate	★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia, congenital, type 5	Adrenal Hyperplasia, Congenital	BEFREE	6300162		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	17854394, 21757861, 23055545, 23065993, 29952409, 31094003		★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	BEFREE	21249393, 21863341, 29858905, 30086867, 30336293, 9620771		★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	16415970	Associate	★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	218453, 89945		★☆☆☆☆ Found in Text Mining only
Adrenomyeloneuropathy	Adrenomyeloneuropathy	BEFREE	218453, 31557422, 6164756		★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	BEFREE	19766264		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	29237618		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	22419722, 28063163, 28780517		★☆☆☆☆ Found in Text Mining only
Alacrima	Alacrima	BEFREE	11062474, 11196451, 12752575, 15843079, 16937455, 23073554, 7758515		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	27196703		★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	BEFREE	12050224		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	CTD_human_DG	2841920		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	26984187		★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	Pubtator	22031191	Associate	★☆☆☆☆ Found in Text Mining only
Angioedemas, Hereditary	Angioedema	BEFREE	1333923, 2553641		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	28551512		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	12468411, 25051442, 27002827, 28782535, 29099963, 30099029, 31281956		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	20176366, 22398003, 9768693		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	40015467	Associate	★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	8804130		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28284896, 28611114, 28627418, 28684258, 28689880, 30206257, 30882424, 31504857		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	19486526, 28284896, 28611114, 28627418, 28684258, 28689880, 30206257, 30882424, 31504857		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	22419722, 28063163, 28780517		★☆☆☆☆ Found in Text Mining only
Apparent mineralocorticoid excess	Apparent Mineralocorticoid Excess	BEFREE	15761540		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30305673		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	22736674, 29581750, 29695862		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17324971	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	CTD_human_DG	8035395		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthropathy	Arthropathy	BEFREE	25725103		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	25150870, 30980429, 31316990, 31803112		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	23026706	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30305673		★☆☆☆☆ Found in Text Mining only
Athetoid cerebral palsy	Athetoid cerebral palsy	CTD_human_DG	8980841		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	15683515, 28834870		★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	27645286		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	27645286		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27645286		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	16996699, 27645286		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27645286, 30684851		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	19707566, 35545418	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	24613350, 29617065, 7977888, 9951562		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	8570775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	LHGDN	18753988		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19426838, 27355580, 31513261		★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	1655458		★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	20708863		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30145293		★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	CTD_human_DG	18056188		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	30299243		★☆☆☆☆ Found in Text Mining only
Benign Infantile Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	6088243		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	1424185		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	21390152	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	2843795, 9664777		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	2984925, 31125758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	2984925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	15239795, 15255181, 24398324, 24906430, 26395295, 28214331		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25287138, 26395295	Associate	★☆☆☆☆ Found in Text Mining only
Bright Disease	Bright Disease	CTD_human_DG	4368615, 6300362		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	31043325, 31723236		★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	15585384		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	Pubtator	24831852	Associate	★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	BEFREE	30183601		★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	CTD_human_DG	8035395		★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	21319031, 22090282, 2823244, 28834902, 29463166, 8254033, 8636444, 9305189	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid tumor of lung	Carcinoid Tumor Of Lung	BEFREE	17556872, 28642733, 9838245		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15001630, 25517869, 6303575, 7915195, 9626135		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10340952, 3488930, 6303575		★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	30918166	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	10029451, 21536413		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	30314823		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	23064477, 24034279	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	6143199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	6143199		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	16740999, 29975581, 30183601		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25923461	Associate	★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	16192737, 28522647, 29909407, 30084690, 30875328		★☆☆☆☆ Found in Text Mining only
Catalepsy	Catalepsy	CTD_human_DG	2999739, 6329457		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	28225310		★☆☆☆☆ Found in Text Mining only
Central hypothyroidism	Central hypothyroidism	BEFREE	27631333, 30336293, 30873631		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	23708259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Palsy	Cerebral palsy	CTD_human_DG	8980841		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Palsy, Atonic	Cerebral Palsy	CTD_human_DG	8980841		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy, Dystonic-Rigid	Cerebral Palsy	CTD_human_DG	8980841		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy, Mixed	Cerebral Palsy	CTD_human_DG	8980841		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy, Quadriplegic, Infantile	Cerebral Palsy	CTD_human_DG	8980841		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy, Rolandic Type	Cerebral Palsy	CTD_human_DG	8980841		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29122730		★☆☆☆☆ Found in Text Mining only
Chloasma	Melasma	BEFREE	28673563, 29846953		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	17692472, 26529631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	CTD_human_DG	3421781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	30779848		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	2844640		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	19337797		★☆☆☆☆ Found in Text Mining only
Chronic interstitial cystitis	Interstitial Cystitis	BEFREE	14532850		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	7805649		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	7805649		★☆☆☆☆ Found in Text Mining only
Chronic schizophrenia	Schizophrenia	BEFREE	30880989		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	1656808, 2169275, 2554740, 2821097, 6324019, 7127082		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	10561696		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	2844640		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28039905, 29158781, 31348308		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	9260769	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25450519, 27468871		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35941638	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	28701629	Stimulate	★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	22801565	Inhibit	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	22013103, 28472507		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	1656808, 2169275, 2554740, 2821097, 6324019, 7127082		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	12858176, 18628520		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	10435060, 10927053, 11196462, 12518247, 12605347, 14714757, 15126546, 15705925, 18618087, 192874, 24884994, 25003377, 27535620, 27743484, 27906551, 28225307, 28500827, 2982902, 2982907, 29880708, 3001309, 30617386, 31821037, 6248589, 6253614, 6271801, 6311859, 7629224, 7915195, 9545098, 9666866		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	6244328		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	10427156, 10792340, 11836321, 11932321, 12213672, 12222711, 14513878, 17551465, 17848847, 17992539, 18187875, 18259105, 18589890, 18618087, 19200987, 1958556, 20846292, 20924223, 28190856, 2831244, 2840308, 30074481, 3009598, 3013005, 3023431, 3029158, 3808511, 6251108, 6253614, 6254362, 6271801, 6290362, 6311859, 7613227, 7629224, 9545098, 9666866		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	Pubtator	18187875, 3001309, 33666875	Associate	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	Pubtator	21673469	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome	Pubtator	20206839	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Cerebral Palsy	Congenital Cerebral Palsy	CTD_human_DG	8980841		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31130573, 31194970		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	19893922, 23512386		★☆☆☆☆ Found in Text Mining only
Congenital Pain Insensitivity	Congenital Pain Insensitivity	BEFREE	1375538		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	15239795, 19337797, 30347271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	3026683, 8277081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conn Adenoma	Conn Adenoma	BEFREE	21521926, 30020487, 30622316, 7792812, 7883831		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	10843166, 1352575, 25538205, 25974737, 27293068, 27725373, 27917596, 28468286, 29678284, 29899838, 30403797, 30622316, 31225874, 31409918, 31618467		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14729605, 28532906, 31217401		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	2844640		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	22531139		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27742581		★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	18426818		★☆☆☆☆ Found in Text Mining only
Cortisone reductase deficiency	Cortisone Reductase Deficiency	BEFREE	12858176, 18628520		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	BEFREE	19766264, 29858852, 31370339		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	14636357		★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	37409973	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	21383526	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30391790		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	9293815	Inhibit	★☆☆☆☆ Found in Text Mining only
Cryptogenic Infantile Spasms	Cryptogenic West syndrome	CTD_human_DG	10908253, 11341487, 1324751, 1327015, 1656808, 17287597, 19039989, 1965992, 20078871, 2551692, 2554740, 2853496, 2983143, 6107850, 6143199, 6254450, 6259007, 8381257, 8928979, 8980841		★☆☆☆☆ Found in Text Mining only
Cryptogenic Infantile Spasms	Cryptogenic West syndrome	BEFREE	29731400		★☆☆☆☆ Found in Text Mining only
Cryptogenic Tonic-Clonic Epilepsy	Cryptogenic Tonic-Clonic Epilepsy	CTD_human_DG	4371370		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	11158338, 11420487, 11443217, 11762358, 11765050, 11994328, 12053094, 12055989, 12414866, 12530696, 12670039, 12727968, 12773116, 12843140, 1327071, 15239795, 15265781, 1542635, 15666794, 15761540, 1597149, 16192737, 16320160, 16402925, 16740999, 16772347, 17220632, 17250952, 17322955, 17556872, 17696832, 17940443, 18075284, 19500767, 19636197, 19690085, 19844118, 19915020, 20385723, 20467160, 20829611, 21521926, 21646730, 22090282, 24859511, 25536975, 25639319, 25665180, 25675982, 2568843, 25871963, 25924874, 25942479, 27255538, 27411099, 27699247, 27699708, 27763781, 27797672, 27879325, 27935805, 28033218, 28170483, 28179447, 28247312, 28337175, 28343156, 28356253, 28382019, 28433999, 28449502, 28451756, 28528397, 28614007, 28614036, 28676429, 28683237, 28759524, 28784879, 28819015, 28851260, 28853111, 28862247, 28920935, 28931176, 28937294, 29032459, 29094256, 29141926, 29144801, 29161416, 29208661, 29266048, 29279458, 29472379, 29535093, 29587720, 29621813, 29632813, 29720169, 29754641, 29755405, 29909407, 29921267, 29936051, 29952409, 30036246, 30093687, 30115708, 30134888, 30259310, 3026608, 30314823, 30352400, 30414423, 30502716, 30561712, 30662460, 30699069, 30800267, 30817193, 30875328, 30915117, 31066920, 31119141, 31152917, 31183355, 31253144, 31264037, 31276155, 31362300, 31440949, 31467526, 31492730, 31499501, 31583577, 31640675, 31717455, 31721265, 7581649, 8008746, 8038906, 8556053, 8706318, 9425403, 9626135, 9745416, 9838245, 9861319, 9888581, 9888586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cushing Syndrome	Cushing syndrome	Pubtator	11420487, 12803235, 18238844, 19429701, 19509103, 19581669, 19849700, 20467160, 21319031, 21655742, 21908929, 22090282, 22785148, 22982371, 23065993, 24785891, 25675982, 25819222, 26188235, 26204136, 26341786, 26619967, 26700559, 27699247, 28222414, 29279458, 30093687, 30442879, 31014964, 31363907, 31492730, 32117062, 32457700, 33692756, 34253781, 34489873, 35821028, 36074996, 36555435, 36697023, 37405461, 37560302, 8528359, 9305189	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cushing Syndrome	Cushing`s Syndrome	LHGDN	12566947, 15004414		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cushing Syndrome	Cushing syndrome	Pubtator	16484744, 21646730, 25942479, 36690805	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cushing Syndrome	Cushing`s Syndrome	CTD_human_DG	19153526, 6088243		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	BEFREE	18657399		★☆☆☆☆ Found in Text Mining only
Cutis laxa, x-linked	Cutis Laxa, X-Linked	BEFREE	6286252		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	22384198		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29731953		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	CTD_human_DG	1267567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of testosterone biosynthesis	Deficiency Of Testosterone Biosynthesis	BEFREE	29789996		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	21378032, 27396757, 29373492, 31146541		★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	2843795, 9664777		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depression, Neurotic	Mental Depression	CTD_human_DG	18201294		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	12818721, 15239795, 22475622, 24138845, 25448875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	15239795, 22475622, 28623762, 29150144, 29793605, 30269042, 31073553, 31570003, 31753054		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	CTD_human_DG	18201294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Syndrome	Mental Depression	CTD_human_DG	18201294		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	27376341		★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	BEFREE	17934097		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	15724090, 29023418, 29235163, 31220451		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	27497434, 28735612		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	29237618		★☆☆☆☆ Found in Text Mining only
Dermoid cyst of ovary	Dermoid Cyst Of Ovary	BEFREE	11765050		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	19344074, 30009717	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27623943, 29402864, 29670283, 29948652, 30256482, 30283405, 30304668, 30343141, 8939064		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	BEFREE	27631333, 29395172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Insipidus	Diabetes Insipidus	CTD_human_DG	6258694		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	CTD_human_DG	19153526		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19337797, 27623943, 29402864, 29670283, 29948652, 30256482, 30283405, 30304668, 30343141, 31058960, 8939064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	20032567	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	27322064, 28862975	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	23649472, 24350820	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27322064	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15699494, 21723177, 22805744, 23649472, 28201960, 28915118		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12757929, 15472174, 15699494, 17728716, 18551113, 22643178, 28388573, 28904020, 29023410		★☆☆☆☆ Found in Text Mining only
Diffuse Scleroderma	Scleroderma	BEFREE	28270187		★☆☆☆☆ Found in Text Mining only
Diplegic Infantile Cerebral Palsy	Cerebral Palsy, Diplegic	CTD_human_DG	8980841		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	CTD_human_DG	4340068		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	24405868	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	26685899		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	4250		★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	28865461	Associate	★☆☆☆☆ Found in Text Mining only
Dyschromatosis universalis hereditaria	Dyschromatosis Universalis Hereditaria	BEFREE	28382689		★☆☆☆☆ Found in Text Mining only
Dyschromatosis universalis hereditaria	Dyschromatosis symmetrica hereditaria	Pubtator	28382689	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	29122401		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	LHGDN	15864412		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	29599416		★☆☆☆☆ Found in Text Mining only
Dystonia Musculorum Deformans	Dystonia	BEFREE	3016220		★☆☆☆☆ Found in Text Mining only
Early Childhood Epilepsy, Myoclonic	Myoclonic Epilepsy	CTD_human_DG	6088243		★☆☆☆☆ Found in Text Mining only
Early onset schizophrenia	Schizophrenia	BEFREE	27804260		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	15724090, 29023418, 29235163, 31220451		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	10364447, 17934097, 26816094		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	17090954	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28799511		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	28814582		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	29920815	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	34418053	Stimulate	★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	CTD_human_DG	18201294		★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	BEFREE	29150144		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	18369387, 35545418	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	20708863, 20943324, 26961412, 29105055, 29636502		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	20708863		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	20708863		★☆☆☆☆ Found in Text Mining only
Epilepsy, Myoclonic, Infantile	Myoclonic Epilepsy	CTD_human_DG	6088243		★☆☆☆☆ Found in Text Mining only
Epilepsy, Tonic-Clonic, Familial	Epilepsy	CTD_human_DG	4371370		★☆☆☆☆ Found in Text Mining only
Epilepsy, Tonic-Clonic, Symptomatic	Epilepsy	CTD_human_DG	4371370		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	1656808, 2169275, 2554740, 2821097, 6324019, 7127082		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	30497921		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	30706797		★☆☆☆☆ Found in Text Mining only
Erythropoietic Protoporphyria	Erythropoietic Protoporphyria	BEFREE	23277150, 30704898		★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Achalasia	BEFREE	15843079, 16197535, 7758515		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	17651452, 25538205, 25974737		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	27919009		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	CTD_human_DG	4327920		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial glucocorticoid deficiency	Glucocorticoid Deficiency	BEFREE	11592568, 15673970, 17161331, 18059087, 18492762, 18493136, 19500760, 19773404, 19795005, 21274326, 21701219, 23279877, 23708259, 238474, 24224542, 26548497, 29678289, 30817990, 8069303, 9167964, 9196605, 9231879		★☆☆☆☆ Found in Text Mining only
Familial Glucocorticoid Deficiency 1	Glucocorticoid deficiency	Pubtator	21274326	Associate	★☆☆☆☆ Found in Text Mining only
Familial Glucocorticoid Deficiency 1	Glucocorticoid deficiency	Pubtator	9758716	Inhibit	★☆☆☆☆ Found in Text Mining only
Familial Glucocorticoid Deficiency Type 1	Glucocorticoid Deficiency	BEFREE	17161331, 17986825, 23293326, 30817990, 31244773, 9196605, 9758716		★☆☆☆☆ Found in Text Mining only
Familial Testotoxicosis	Testotoxicosis	BEFREE	11549627, 18414894		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	27118537	Inhibit	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	30929860	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	CTD_human_DG	167377		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	BEFREE	29351427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Femur Head Necrosis	Femur Head Necrosis	CTD_human_DG	4326745		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	29792169, 29852493, 29894413		★☆☆☆☆ Found in Text Mining only
Follicle stimulating hormone deficiency	Follicle Stimulating Hormone Deficiency	BEFREE	29165725		★☆☆☆☆ Found in Text Mining only
Functional Gastrointestinal Disorders	Functional Gastrointestinal Disorders	CTD_human_DG	6254450		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	28232376		★☆☆☆☆ Found in Text Mining only
Gastrinoma	Gastrinoma	BEFREE	1285276		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	CTD_human_DG	6254450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized seizures	Seizure	CTD_human_DG	1656808, 2169275, 2554740, 2821097, 6324019, 7127082		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10561696		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30009717		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	CTD_human_DG	4368615, 6300362		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glucocorticoid Deficiency 2	Glucocorticoid deficiency	Pubtator	15673970, 19773404, 19903795, 21274326, 32627004	Associate	★☆☆☆☆ Found in Text Mining only
Glucocorticoid deficiency with achalasia	Glucocorticoid Deficiency With Achalasia	BEFREE	11062474, 11196451, 12530689, 15666842, 17161331, 17986825, 18493136, 1850671, 18551317, 28395280, 30817990, 8968764		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid receptor deficiency/resistance	Pubtator	11420487	Associate	★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	17635946, 19933394		★☆☆☆☆ Found in Text Mining only
Glucocorticoid-remediable aldosteronism	Hyperaldosteronism	BEFREE	10843166, 1731223, 7593610, 7988480, 8070423, 8954032, 8964867, 8969929		★☆☆☆☆ Found in Text Mining only
Glucose Metabolism Disorders	Glucose Metabolism Disorders	BEFREE	29285858		★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gout	Gout	BEFREE	30183601		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	30544387		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	34681884	Stimulate	★☆☆☆☆ Found in Text Mining only
Growth Hormone Deficiency With Pituitary Anomalies	Growth hormone deficiency with pituitary anomalies	Pubtator	18765507	Associate	★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	11699555, 8890999		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	31439558		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	18426818		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31350019		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	15239795, 30347271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	16679696, 35784540	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	CTD_human_DG	3026683, 8277081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	3026683, 8277081		★☆☆☆☆ Found in Text Mining only
Hemianopsia	Hemianopsia	BEFREE	30765454		★☆☆☆☆ Found in Text Mining only
HEMIHYPERPLASIA, ISOLATED	Hemihyperplasia	BEFREE	29275211		★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	18753988	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	18753988	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	18753988	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	26529631		★☆☆☆☆ Found in Text Mining only
Horner Syndrome	Horner Syndrome	BEFREE	28343156		★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	7883846		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	11523904, 11675955, 12358136, 2554039, 32411097, 33796077, 7792815	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	11600544, 1731223, 18848600, 21190871, 24297486, 27293068, 28337175, 8070423		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	7593610	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	10521100, 16551740, 1955515, 20110635, 31237951, 8137989		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	19542736, 21908468	Associate	★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	10436815		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	28051762		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	15699494, 28218955, 28665324, 29402864, 29525472, 29857041		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	32457700, 37396180	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	12882910, 19723777, 28923931		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	35974370	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	26188235	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	28487303, 31358067, 32457700	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	10100081, 10474778, 10513829, 10658937, 11071300, 11071304, 11132610, 11193135, 11518849, 11560123, 11703388, 12872045, 12887135, 1316127, 1321011, 1321309, 1327015, 1330390, 1334993, 15110907, 15132301, 15554453, 16053986, 16243970, 1649024, 16546835, 16620303, 1664305, 17324744, 17954371, 17994356, 18067589, 18487447, 187612, 19153526, 19458537, 20186125, 20659135, 2157753, 216942, 2455169, 2551692, 2821097, 2822310, 2849322, 2992854, 3001556, 3015460, 323586, 4367732, 6088243, 6089027, 6097376, 6100240, 6135010, 6143199, 6254450, 6274577, 6279500, 6283272, 76749, 8136112, 8261660, 8279378, 8713685, 8800598, 9056691, 9535146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	10999827, 11082157, 11595502, 12670039, 15521956, 1731223, 17651452, 17980006, 2166072, 25974737, 26103132, 27293068, 28170483, 28274841, 28487303, 28756941, 29943847, 29975581, 30115708, 30183601, 30601318, 31769329, 7868876		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	Pubtator	37876543	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	2536513, 2831920, 2853496, 8381257, 8928979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	2536513, 2831920, 2853496, 8381257, 8928979		★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	BEFREE	10931108, 12165561, 16936203, 18059087, 19795005, 30201275, 7629224, 7758515		★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	28472507		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	11585376, 11788380, 12812307, 1309833, 1850671, 25523067, 26768186, 28201960, 29414030, 30503832, 31448886, 31831513, 3782421		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	8797055, 8835601	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemic seizures	Hypoglycemic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	22761912, 31464148	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	31489172		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	20467160		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	27714857, 28114924, 3688022		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	16272819, 23029363, 29678528, 29678704		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	38538470	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	BEFREE	19320653		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	27631333, 30336293, 30873631		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	35821028	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	6088243		★☆☆☆☆ Found in Text Mining only
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	27084801		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	29792169		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	CTD_human_DG	6107850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY, COMMON VARIABLE, 10	Common variable immunodeficiency	BEFREE	28472507		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22475622		★☆☆☆☆ Found in Text Mining only
Inappropriate ACTH Secretion Syndrome	Inappropriate ACTH Secretion Syndrome	CTD_human_DG	16809932		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	6088243		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	14636357, 19024088, 20042918, 20722663, 23775678, 25149137, 25268096, 28007393, 28127707, 28421469, 28427564, 29270989, 29636502, 30801699, 30875634, 31331669, 31657133, 31769329		★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	30692924		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26567174, 29948562		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	27376341		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	23649472, 32928872	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35545418	Associate	★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	14532850		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	31640675		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	18684212, 27038676, 28963545, 29402137, 29948562, 29979696, 30616026, 31336406, 31570003, 31587547, 31609924		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	18684212, 27038676, 31336406	Associate	★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	27919009, 31019854		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	15728198, 23029363, 29858905, 30637621		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Jackknife Seizures	Jackknife Seizures	CTD_human_DG	10908253, 11341487, 1324751, 1327015, 1656808, 17287597, 19039989, 1965992, 20078871, 2551692, 2554740, 2853496, 2983143, 6107850, 6143199, 6254450, 6259007, 8381257, 8928979, 8980841		★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	1656808, 2169275, 2554740, 2821097, 6324019, 7127082		★☆☆☆☆ Found in Text Mining only
Jaundice, Obstructive	Jaundice	BEFREE	29857894		★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	16042330		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	22801565		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	22927820, 25710169		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	28555095		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	CTD_human_DG	1324751		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	6143199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	17216604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	BEFREE	31556012		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	7805649		★☆☆☆☆ Found in Text Mining only
Kinsbourne Syndrome	Opsoclonus-myoclonus syndrome	CTD_human_DG	1318289		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	35545418	Associate	★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	BEFREE	15845926		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	2845257		★☆☆☆☆ Found in Text Mining only
Late onset congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	12518247, 15004406, 21646284		★☆☆☆☆ Found in Text Mining only
Left posterior fascicular block	Left posterior fascicular block	BEFREE	9194541		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	3026683, 8277081		★☆☆☆☆ Found in Text Mining only
LEPTIN RECEPTOR DEFICIENCY	LEPTIN RECEPTOR DEFICIENCY	BEFREE	30642682		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28295636		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	9790276	Associate	★☆☆☆☆ Found in Text Mining only
Leydig Cell Tumor	Leydig Cell Tumor	BEFREE	2394836		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	29124350		★☆☆☆☆ Found in Text Mining only
Lipoid congenital adrenal hyperplasia	Congenital lipoid adrenal hyperplasia	Pubtator	32627004	Associate	★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	CTD_human_DG	8980841		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27864623, 28465639, 28735896, 29538313, 29766659, 30282074, 30941964, 31648804		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	31320899		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	CTD_human_DG	15313186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Neoplasms	Liver neoplasm	Pubtator	2823244	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	CTD_human_DG	19931775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	BEFREE	30835592, 6303575		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	2159143	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	2845257, 29219752, 29587720, 30115708, 31094003, 3488930, 8388056		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	30232300		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31363907	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	9790276		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	2536407		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	1528959, 15504420, 25448875, 27837659, 30269042, 31125758		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31350019		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of adrenal cortex	Adrenocortical carcinoma	BEFREE	17854394, 29952409		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24398324, 24906430, 26395295, 28214331		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28735896, 30282074		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10340952, 28343156, 2845257		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28797006		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	10029451, 20126537, 21222265, 24949966		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25450519, 27468871		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10657486, 16914089, 22147647, 24697693, 2536407, 29603582, 29993641, 30422869, 31183355		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29158781, 31348308		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	11854475, 14557433, 20176366, 21211530, 22223754, 22398003, 3023431		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15239795		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	2843795, 9664777		★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	2843795, 9664777		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	27411099, 31801917		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	12053094, 12466368, 14557423, 17696832, 30036246, 3488930, 6546764		★☆☆☆☆ Found in Text Mining only
Melancholia	Melancholia	CTD_human_DG	18201294		★☆☆☆☆ Found in Text Mining only
Melancholia	Melancholia	BEFREE	29150144		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10504441, 12445207, 15054471	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	10536983, 10692112, 14612916, 1516719, 26024475, 3095831	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	11936276		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	12439754, 15983061, 19641225, 19837749, 20126537, 21040502, 21126174, 22147647, 22863076, 23468531, 25017567, 28491052, 28578648, 28625749, 28714883, 29020973, 29058865, 29094944, 29182034, 29316344, 29714486, 30209981, 30912594, 31272482, 31297699, 8440904, 8856498, 9572472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	24412703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	29792169, 30683678		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	12818721, 15239795, 22475622, 24138845, 25448875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	15239795, 22475622, 28623762, 29150144, 29793605, 30269042, 31073553, 31324357, 31570003, 31753054		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	CTD_human_DG	18056188		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31798479		★☆☆☆☆ Found in Text Mining only
Mental Disorders, Severe	Mental Disorders	CTD_human_DG	18056188		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	14576363		★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	BEFREE	31187563		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30222981, 31344387		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	29598821	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19723777, 23817596, 28291973, 29235050, 30222981, 31798479		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	23468531		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	10951272	Stimulate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	28884442, 9830058		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28274721, 30984274, 9367292		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	29220118		★☆☆☆☆ Found in Text Mining only
Monoplegic Cerebral Palsy	Monoplegic Cerebral Palsy	CTD_human_DG	8980841		★☆☆☆☆ Found in Text Mining only
Monoplegic Infantile Cerebral Palsy	Monoplegic Cerebral Palsy	CTD_human_DG	8980841		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	Pubtator	30235707	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	30098725, 6546764		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	16368411, 18300794		★☆☆☆☆ Found in Text Mining only
Multiple endocrine neoplasia Type 2	Multiple Endocrine Neoplasia	BEFREE	6146910		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	BEFREE	6146910		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12640071, 28450891, 28641771, 28877366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	12640071, 24856378	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	CTD_human_DG	2843795, 9664777		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis, Acute Fulminating	Multiple Sclerosis	CTD_human_DG	2843795, 9664777		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	37569734	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	CTD_human_DG	4323972		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis, Generalized	Myasthenia Gravis	CTD_human_DG	4323972		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis, Ocular	Myasthenia Gravis	CTD_human_DG	4323972		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	15988144		★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	6143199		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	3026683, 8277081		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	10908253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	22531139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic Absence Epilepsy	Myotonia Levior	CTD_human_DG	6088243		★☆☆☆☆ Found in Text Mining only
Myoclonic Astatic Epilepsy	Myoclonic Astatic Epilepsy	CTD_human_DG	6088243		★☆☆☆☆ Found in Text Mining only
Myoclonic Encephalopathy	Myoclonic Encephalopathy	CTD_human_DG	6088243		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	6088243		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	10999804, 11549662, 11874420, 26257173		★☆☆☆☆ Found in Text Mining only
Narcolepsy 1	Narcolepsy	Pubtator	31328572	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	27411099		★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	BEFREE	26529631		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10022450, 10435060, 10436815, 10443698, 10481784, 10700725, 11075732, 11158338, 11174837, 11397864, 11443217, 11563625, 11602619, 11678840, 11762358, 11932334, 11993688, 12039064, 12055989, 12414866, 1283118, 1327071, 1332850, 1424185, 14671177, 14671214, 15149732, 15191336, 15643505, 15705875, 15734994, 15818732, 16020484, 16061826, 16382005, 16551736, 16787992, 17220632, 17299063, 17556872, 17595257, 17696832, 18300794, 18589890, 18618087, 19318729, 19423561, 19509103, 1967615, 19690085, 19707004, 20629968, 21383526, 2153197, 22090282, 22105169, 22147647, 22419722, 23055545, 23065993, 23638078, 23840303, 2394836, 24085685, 24817066, 24884994, 25011056, 25107550, 2536890, 25377161, 25517869, 2568843, 25867808, 25942479, 26012588, 26252984, 26700559, 26714014, 26848743, 27025408, 27220856, 27253665, 27581836, 27708250, 27779153, 27879325, 27913610, 27935805, 28033218, 28179447, 28193212, 28202381, 28210900, 28214331, 28232376, 28291643, 28432562, 28433999, 2844181, 2845257, 28578648, 28660993, 28781062, 28865461, 28945870, 28950324, 28982703, 29141926, 29201449, 29313180, 29545227, 29587720, 29678528, 29765354, 29766359, 29873290, 29881371, 29912000, 2997296, 30036246, 30134888, 30192191, 30214591, 3026608, 30610567, 30611770, 30669168, 30816132, 30880293, 30973841, 31019854, 31094003, 31236798, 31264037, 31319379, 31666445, 31694673, 31695680, 31714276, 31722706, 3488930, 3596003, 6146910, 6301015, 6546764, 7521350, 7750098, 7804445, 7805649, 7883831, 7935088, 7956924, 7962350, 8027238, 8106629, 8162254, 8246449, 8263325, 8306470, 8396510, 8530610, 8626831, 8800643, 8989239, 9027322, 9100573, 9100578, 9425403, 9572472, 9578513, 9609310, 9768675, 9783913, 9851770, 9876345, 9883991, 9888581		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	CTD_human_DG	3017235		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	27084801, 27270328, 30356069, 30442868		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	27084801		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31328572		★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	BEFREE	28232376		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	22031191	Stimulate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18440707, 9607411		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16415970	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30009717		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	27919009		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	11602619, 14671177, 24085685, 25819222, 27585487, 28183788, 28614007, 28614036, 28759524, 30314823, 30502716, 31102172, 31187563, 31306208, 31583577, 31640675, 31695680, 8388056, 8636444, 8989239		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	25775093		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29084866		★☆☆☆☆ Found in Text Mining only
Nevus comedonicus	Nevus comedonicus	BEFREE	20846292		★☆☆☆☆ Found in Text Mining only
Nodding spasm	Spasmus nutans	CTD_human_DG	10908253, 11341487, 1324751, 1327015, 1656808, 17287597, 19039989, 1965992, 20078871, 2551692, 2554740, 2853496, 2983143, 6107850, 6143199, 6254450, 6259007, 8381257, 8928979, 8980841		★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	19786827		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25377161, 30093497		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	28547758		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	30460884, 31187563		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10470087, 10885325, 10903341, 11151766, 11461706, 11487744, 11600552, 11874690, 11979399, 12165561, 12481551, 12740451, 12851327, 14557433, 14572167, 15472174, 15585384, 15798195, 15951321, 16222047, 16440060, 16459314, 16644867, 16682835, 16936203, 17728716, 18510797, 18551113, 18697863, 18837289, 19620779, 19723777, 19747414, 21208604, 21211530, 21366729, 22438814, 22643178, 23028917, 24890885, 25051442, 26103132, 26226973, 26345846, 27193597, 27468060, 27623943, 27939689, 28073831, 28167369, 28170483, 28274841, 28324042, 28350524, 28388573, 28499988, 28628036, 28739551, 28762947, 28771698, 28801068, 28904020, 28915118, 29031726, 29099963, 29168299, 29226825, 29321171, 29397535, 29457782, 29587720, 29670083, 29670283, 29726959, 30143607, 30222981, 30230471, 30283405, 30377736, 30395773, 30728336, 30755252, 30997487, 31104058, 31127052, 31230943, 31235650, 31237951, 31344387, 31495690, 8636293, 8939064, 9620771, 9768693		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	Pubtator	15280154, 15951321, 16222047, 16459314, 16459315, 18765507, 23028917, 23649472, 25923461, 26226973, 26449484, 27193597, 27322064, 27421018, 27468060, 28377240, 28739551, 28787727, 29598821, 29726959, 29752338, 30991789, 32928872, 34036349, 34097736, 34207686, 34436011, 35026759, 35123544, 35192151, 35737586, 35805082, 36479220, 36775011, 36864747, 37092539, 37329217, 37871278	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	CTD_human_DG	16289378, 19153526		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	Pubtator	9385614	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity due to pro-opiomelanocortin deficiency	Obesity	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Obesity Morbid	Obesity	Pubtator	28377240	Associate	★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	10508193, 11487744, 12165561, 16936203, 24890885, 29726959, 29858905, 30201275		★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	BEFREE	15126546		★☆☆☆☆ Found in Text Mining only
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	BEFREE	12114294		★☆☆☆☆ Found in Text Mining only
Opsoclonus-Myoclonus Syndrome	Opsoclonus-myoclonus syndrome	CTD_human_DG	1318289		★☆☆☆☆ Found in Text Mining only
Opsoclonus-Myoclonus Syndrome	Opsoclonus-myoclonus syndrome	BEFREE	29555260		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37843327	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	30721648	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	30721648, 31146541		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	LHGDN	15864412		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	1655458, 30496742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	CTD_human_DG	19153526, 3017235, 4367732, 6143199, 6254450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	19153526, 3017235, 4367732, 6143199, 6254450		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	19153526, 3017235, 4367732, 6143199, 6254450		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27987181		★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	BEFREE	1333923		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	10521100	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	29971854, 9166320		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	8137989		★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	7883846		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	3026608		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	CTD_human_DG	6143199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Endocrine Carcinoma	Pancreatic Endocrine Carcinoma	BEFREE	3026608		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36690805	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	36690805	Associate	★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	11134108, 12812307, 16984240		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	2844640		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31492730		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	30249912		★☆☆☆☆ Found in Text Mining only
Paraneoplastic Opsoclonus-Myoclonus Ataxia	Opsoclonus-myoclonus syndrome	CTD_human_DG	1318289		★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic syndrome	Pubtator	38035072	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	16876316, 19076380		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	15472174, 16222047, 19766264, 22438814		★☆☆☆☆ Found in Text Mining only
Pelger-Huet Anomaly	Pelger-Huet Anomaly	BEFREE	29127765		★☆☆☆☆ Found in Text Mining only
Penile Diseases	Penile Diseases	CTD_human_DG	1358647, 2825910, 3033702		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma	Pheochromocytoma	BEFREE	12466368, 14557423, 26700559, 27699708, 2844181, 2845257, 29760304, 30214591, 31434676, 3488930, 3596003, 3784778, 6952189, 7921204		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	26700559	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	BEFREE	12386824		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	10760821, 25639319, 26252984, 27227698, 27352274, 27894193, 28532906, 28560099, 29189371, 29501516, 29524699, 30816132, 31053487, 9609310		★☆☆☆☆ Found in Text Mining only
Pituitary carcinoma	Pituitary carcinoma	BEFREE	28291643, 30460199, 31349217		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	12386824, 1333923, 16551736, 16603725, 21383526, 2394836, 25942479, 27253665, 27784217, 28198428, 28332004, 2845257, 28736286, 30289445, 30705635, 31019854, 31225871, 31350019, 9100578		★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	BEFREE	23029363		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	1327071, 1424185, 16382005, 25517869, 26714014, 29271716, 29432944, 30474823, 8383976, 8396510, 9783913, 9883991		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	16953066, 18079591, 19318729, 19344074, 19356251, 21383526, 25675982, 27025408, 27220856, 27779153, 28865461, 29920815, 30085142, 31130573, 32079542, 32622369, 33584540, 34061962, 35521707, 37065760, 37233978, 37800955, 38123488, 40129213, 8254033, 9506748	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	18057378		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	26884293	Inhibit	★☆☆☆☆ Found in Text Mining only
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	BEFREE	23199197, 26529631, 31722706		★☆☆☆☆ Found in Text Mining only
Pituitary-dependent Cushing`s disease	Pituitary Dependent Hypercortisolism	CTD_human_DG	16809932		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	12858176, 1333923, 15598692, 16551740, 17403434, 17451692, 18187875, 20110635, 23386413, 27603705, 28683237, 31237951, 31264709		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	18187875, 19542736	Associate	★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	29237618		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	182497		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	BEFREE	6164756		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	19153526, 3017235, 4367732, 6143199, 6254450		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28623762, 29268182, 31798479		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	2741944, 29959886, 3688022		★☆☆☆☆ Found in Text Mining only
Precocious pubarche	Precocious Pubarche	BEFREE	12050224, 15585552, 21646284, 23329749, 29976972, 8923844		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	11549627, 30537713		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	28295636, 9790276		★☆☆☆☆ Found in Text Mining only
Premature adrenarche	Premature adrenarche	BEFREE	18356748		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	9166320		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	BEFREE	15579739, 18645707, 2493025		★☆☆☆☆ Found in Text Mining only
Primary pigmented nodular adrenocortical disease	Pigmented Nodular Adrenocortical Disease	BEFREE	10701527, 1542635, 16192737, 16756677, 21733995, 27699247, 29094256, 29909407		★☆☆☆☆ Found in Text Mining only
Progressive pseudorheumatoid dysplasia	Progressive Pseudorheumatoid Dysplasia	BEFREE	31388769		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	10404841, 17299063, 22801565, 29574220, 30476659, 7521350, 7750098		★☆☆☆☆ Found in Text Mining only
Proopiomelanocortin Deficiency	Proopiomelanocortin Deficiency	BEFREE	29858905		★☆☆☆☆ Found in Text Mining only
Proopiomelanocortin Deficiency	Proopiomelanocortin Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Proopiomelanocortin Deficiency	Proopiomelanocortin Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Proopiomelanocortin Deficiency	Proopiomelanocortin Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28797006		★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	17611580	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	BEFREE	31696922		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	23303587, 27376341		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	30460884, 31187563		★☆☆☆☆ Found in Text Mining only
Pyogenic Sacroiliitis	Pyogenic Sacroiliitis	CTD_human_DG	19533139		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14729605, 28532906, 31217401		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	2844640		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	27270328		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	31316990		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	6286252		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	CTD_human_DG	18464280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Retinoblastoma	BEFREE	16912184		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	16996699, 7977888		★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	CTD_human_DG	10908253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11669152		★☆☆☆☆ Found in Text Mining only
Sacroiliitis	Sacroiliitis	CTD_human_DG	19533139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Salaam Seizures	Salaam Seizures	CTD_human_DG	10908253, 11341487, 1324751, 1327015, 1656808, 17287597, 19039989, 1965992, 20078871, 2551692, 2554740, 2853496, 2983143, 6107850, 6143199, 6254450, 6259007, 8381257, 8928979, 8980841		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Salaam Seizures	Salaam Seizures	BEFREE	29984606, 30875634, 31492455		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	32805608, 35821028	Associate	★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	2844640		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	12643442		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18155448, 19394958, 19428782, 29638031, 2984925, 31798479		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	19180474		★☆☆☆☆ Found in Text Mining only
Seasonal Affective Disorder	Seasonal Affective Disorder	BEFREE	31299439		★☆☆☆☆ Found in Text Mining only
Seborrheic dermatitis	Seborrheic dermatitis	BEFREE	27497434		★☆☆☆☆ Found in Text Mining only
Secondary Adrenal Insufficiency	Adrenal Insufficiency	BEFREE	23634994, 25145448, 28750490, 29858905, 30086867, 30427776, 30530907, 31135894, 31217401, 31567704, 31831513		★☆☆☆☆ Found in Text Mining only
Secondary Adrenal Insufficiency	Adrenal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	BEFREE	27631333, 30336293, 30637621, 30873631, 31811804		★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	18369387, 35190816, 36882827, 38015929	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	32481472, 33436160, 40527848	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septic Sacroiliitis	Septic Sacroiliitis	CTD_human_DG	19533139		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	22073145, 29496447		★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	18852528		★☆☆☆☆ Found in Text Mining only
Short Sleeper Syndrome	Short Sleeper Syndromes	CTD_human_DG	18464280		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	CTD_human_DG	19039989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick Sinus Syndrome	BEFREE	30012209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Single Seizure	Seizure	CTD_human_DG	1656808, 2169275, 2554740, 2821097, 6324019, 7127082		★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	CTD_human_DG	19039989		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	CTD_human_DG	18464280		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	30299243		★☆☆☆☆ Found in Text Mining only
Sleep Wake Disorders	Sleep Wake Disorders	CTD_human_DG	18464280		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10340952, 10353606, 11158338, 11762358, 1325994, 15149732, 15531725, 2472813, 2558057, 26848743, 28139270, 30115708, 30134888, 30232300, 31102172, 31183355, 7491111, 7935088, 8163665, 8383976, 8800643, 9783913, 9883991		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	1325994, 2553086, 8163665	Associate	★☆☆☆☆ Found in Text Mining only
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	BEFREE	21990131		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	29858905, 30530907, 30637621		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	20078871, 26704170, 33360040, 33452776, 35190816	Inhibit	★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	40019827	Associate	★☆☆☆☆ Found in Text Mining only
spasmus nutans	Spasmus nutans	CTD_human_DG	10908253, 11341487, 1324751, 1327015, 1656808, 17287597, 19039989, 1965992, 20078871, 2551692, 2554740, 2853496, 2983143, 6107850, 6143199, 6254450, 6259007, 8381257, 8928979, 8980841		★☆☆☆☆ Found in Text Mining only
Spastic cerebral palsy	Spastic Cerebral Palsy	CTD_human_DG	8980841		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20206445		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28249786		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	167377		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29351427		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25450519, 27468871		★☆☆☆☆ Found in Text Mining only
STOMATOCYTOSIS I	Stomatocytosis	BEFREE	6286252		★☆☆☆☆ Found in Text Mining only
Subaortic stenosis	Subaortic Stenosis	CTD_human_DG	1965992		★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	29590552		★☆☆☆☆ Found in Text Mining only
Symptomatic Infantile Spasms	Symptomatic West syndrome	CTD_human_DG	10908253, 11341487, 1324751, 1327015, 1656808, 17287597, 19039989, 1965992, 20078871, 2551692, 2554740, 2853496, 2983143, 6107850, 6143199, 6254450, 6259007, 8381257, 8928979, 8980841		★☆☆☆☆ Found in Text Mining only
Symptomatic Infantile Spasms	Symptomatic West syndrome	BEFREE	31492455		★☆☆☆☆ Found in Text Mining only
Symptomatic Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	6088243		★☆☆☆☆ Found in Text Mining only
Synovial Hypertrophy	Synovial Hypertrophy	CTD_human_DG	8035395		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	CTD_human_DG	8035395		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	BEFREE	19180474		★☆☆☆☆ Found in Text Mining only
Testicular adrenal rest tumor	Testicular adrenal rest tumor	BEFREE	17595257, 20190160, 30882882, 31214118		★☆☆☆☆ Found in Text Mining only
Thymus Hyperplasia	Thymus Hyperplasia	BEFREE	11075732		★☆☆☆☆ Found in Text Mining only
Thymus Neoplasms	Thymus Neoplasms	BEFREE	2997296		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	1424185, 18497954		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	1656808, 2169275, 2554740, 2821097, 6324019, 7127082		★☆☆☆☆ Found in Text Mining only
Tonic-Clonic Epilepsy	Tonic-Clonic Epilepsy	CTD_human_DG	4371370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11158338, 25536975, 31164868		★☆☆☆☆ Found in Text Mining only
Trifascicular block	Trifascicular block	BEFREE	9194541		★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Trifunctional protein deficiency	Pubtator	3267357	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	30503720		★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	6143199		★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	BEFREE	12213672, 16439455, 30699069		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	2168659	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	31242778, 8306479		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26567174		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	15504420, 22475622, 25448875, 30269042		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	CTD_human_DG	18201294		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	19426838		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	25898835	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	12488365		★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	BEFREE	14636357		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	1656808, 2169275, 2554740, 2821097, 6324019, 7127082		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	18174282, 26437741, 30836409		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	18174282, 26437741, 30836409		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	20336352		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	CTD_human_DG	10908253, 11341487, 1324751, 1327015, 1656808, 17287597, 19039989, 1965992, 20078871, 2551692, 2554740, 2853496, 2983143, 6107850, 6143199, 6254450, 6259007, 8381257, 8928979, 8980841		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	BEFREE	11701255, 12438675, 14636357, 19024088, 19264735, 20042918, 20722663, 23775678, 25149137, 25268096, 28007393, 28127707, 28288483, 28421469, 28427564, 28551038, 28927673, 29086890, 29105055, 29270989, 29636502, 29724126, 30293931, 30801699, 30875634, 31331669, 31657133, 31724502, 31769329		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams Syndrome	BEFREE	14745832		★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome 1	Wolfram Syndrome	BEFREE	16876316		★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	11549627, 19893922, 23512386		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	31505093		★☆☆☆☆ Found in Text Mining only