APOA1 (apolipoprotein A1)

Gene

• Entrez ID: 335
• Gene name: Apolipoprotein A1
• Gene symbol: APOA1
• Synonyms (NCBI Gene): AMYLD3, HPALP2, apo(a)
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues t

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT483217	hsa-miR-3179	PAR-CLIP	20371350
MIRT483216	hsa-miR-3202	PAR-CLIP	20371350
MIRT483214	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT483215	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT483217	hsa-miR-3179	PAR-CLIP	20371350
MIRT483216	hsa-miR-3202	PAR-CLIP	20371350
MIRT483214	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT483215	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT528210	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT528209	hsa-miR-1305	PAR-CLIP	22012620
MIRT528208	hsa-miR-6722-5p	PAR-CLIP	22012620
MIRT499158	hsa-miR-181d-3p	PAR-CLIP	24398324
MIRT483217	hsa-miR-3179	PAR-CLIP	24398324
MIRT499157	hsa-miR-3663-3p	PAR-CLIP	24398324
MIRT483216	hsa-miR-3202	PAR-CLIP	24398324
MIRT483214	hsa-miR-4747-5p	PAR-CLIP	24398324
MIRT483215	hsa-miR-5196-5p	PAR-CLIP	24398324
MIRT483217	hsa-miR-3179	PAR-CLIP	23592263
MIRT483216	hsa-miR-3202	PAR-CLIP	23592263
MIRT483214	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT483215	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT483217	hsa-miR-3179	PAR-CLIP	23592263
MIRT483216	hsa-miR-3202	PAR-CLIP	23592263
MIRT483214	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT483215	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT449578	hsa-miR-135a-5p	PAR-CLIP	22100165
MIRT449577	hsa-miR-135b-5p	PAR-CLIP	22100165
MIRT449576	hsa-miR-4740-3p	PAR-CLIP	22100165
MIRT449575	hsa-miR-3158-5p	PAR-CLIP	22100165
MIRT449574	hsa-miR-558	PAR-CLIP	22100165
MIRT449573	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT483217	hsa-miR-3179	PAR-CLIP	20371350
MIRT483216	hsa-miR-3202	PAR-CLIP	20371350
MIRT483214	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT483215	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT483217	hsa-miR-3179	PAR-CLIP	20371350
MIRT483216	hsa-miR-3202	PAR-CLIP	20371350
MIRT483214	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT483215	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT528210	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT528209	hsa-miR-1305	PAR-CLIP	22012620
MIRT528208	hsa-miR-6722-5p	PAR-CLIP	22012620
MIRT499158	hsa-miR-181d-3p	PAR-CLIP	24398324
MIRT483217	hsa-miR-3179	PAR-CLIP	24398324
MIRT499157	hsa-miR-3663-3p	PAR-CLIP	24398324
MIRT483216	hsa-miR-3202	PAR-CLIP	24398324
MIRT483214	hsa-miR-4747-5p	PAR-CLIP	24398324
MIRT483215	hsa-miR-5196-5p	PAR-CLIP	24398324
MIRT483217	hsa-miR-3179	PAR-CLIP	23592263
MIRT483216	hsa-miR-3202	PAR-CLIP	23592263
MIRT483214	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT483215	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT483217	hsa-miR-3179	PAR-CLIP	23592263
MIRT483216	hsa-miR-3202	PAR-CLIP	23592263
MIRT483214	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT483215	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT449578	hsa-miR-135a-5p	PAR-CLIP	22100165
MIRT449577	hsa-miR-135b-5p	PAR-CLIP	22100165
MIRT449576	hsa-miR-4740-3p	PAR-CLIP	22100165
MIRT449575	hsa-miR-3158-5p	PAR-CLIP	22100165
MIRT449574	hsa-miR-558	PAR-CLIP	22100165
MIRT449573	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT756031	hsa-miR-520h	Luciferase reporter assay, qRT-PCR	34555726

Transcription factors

Transcription factor	Regulation	Reference
FOXA2	Unknown	7961760
GATA6	Unknown	14659877
HNF4A	Unknown	7961760
SP1	Unknown	10829013

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IDA	11297421
GO:0001540	Function	Amyloid-beta binding	IPI	9211985
GO:0001935	Process	Endothelial cell proliferation	IEA
GO:0002719	Process	Negative regulation of cytokine production involved in immune response	IDA	12458630
GO:0005102	Function	Signaling receptor binding	IPI	27477018
GO:0005319	Function	Lipid transporter activity	IEA
GO:0005515	Function	Protein binding	IPI	1587806, 11297421, 11991719, 12084722, 12917409, 14967812, 17676061, 17786215, 19758344, 21900206, 23719382, 25416956, 25910212, 28514442, 28565870, 28887769, 30458687, 31270237, 32296183, 32814053, 33961781
GO:0005543	Function	Phospholipid binding	IBA
GO:0005543	Function	Phospholipid binding	IDA	12810715
GO:0005576	Component	Extracellular region	HDA	27068509, 27559042
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470, 20551380, 22664934
GO:0005615	Component	Extracellular space	IDA	19433579
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS	22261194
GO:0005769	Component	Early endosome	TAS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IDA	4335615
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	23726972
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	16443932
GO:0007229	Process	Integrin-mediated signaling pathway	IDA	23726972
GO:0008035	Function	High-density lipoprotein particle binding	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IBA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IMP	15464323
GO:0008211	Process	Glucocorticoid metabolic process	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0010804	Process	Negative regulation of tumor necrosis factor-mediated signaling pathway	IDA	21571275
GO:0010875	Process	Positive regulation of cholesterol efflux	IDA	27472885
GO:0010903	Process	Negative regulation of very-low-density lipoprotein particle remodeling	IDA	14967812
GO:0015485	Function	Cholesterol binding	IDA	15464323
GO:0018158	Process	Protein oxidation	IDA	12576517
GO:0018206	Process	Peptidyl-methionine modification	IDA	12576517
GO:0019899	Function	Enzyme binding	IPI	1587806
GO:0019915	Process	Lipid storage	IEA
GO:0030139	Component	Endocytic vesicle	IDA	14747463
GO:0030300	Process	Regulation of intestinal cholesterol absorption	IEA
GO:0030301	Process	Cholesterol transport	IDA	10559507
GO:0030301	Process	Cholesterol transport	IEA
GO:0030325	Process	Adrenal gland development	IEA
GO:0031072	Function	Heat shock protein binding	IPI	11027668
GO:0031410	Component	Cytoplasmic vesicle	IDA	14703508
GO:0032489	Process	Regulation of Cdc42 protein signal transduction	IDA	16443932
GO:0032691	Process	Negative regulation of interleukin-1 beta production	IDA	12458630
GO:0033344	Process	Cholesterol efflux	IBA
GO:0033344	Process	Cholesterol efflux	IDA	11162594, 14703508, 15358760, 16443932, 21481393
GO:0033344	Process	Cholesterol efflux	IEA
GO:0033344	Process	Cholesterol efflux	IMP	12202492
GO:0033700	Process	Phospholipid efflux	IBA
GO:0033700	Process	Phospholipid efflux	IDA	11162594, 14703508
GO:0034115	Process	Negative regulation of heterotypic cell-cell adhesion	IDA	21571275
GO:0034190	Function	Apolipoprotein receptor binding	IPI	11162594
GO:0034191	Function	Apolipoprotein A-I receptor binding	IPI	16443932
GO:0034205	Process	Amyloid-beta formation	EXP	27992182
GO:0034205	Process	Amyloid-beta formation	IDA	27992182
GO:0034361	Component	Very-low-density lipoprotein particle	IBA
GO:0034361	Component	Very-low-density lipoprotein particle	IDA	17154273
GO:0034362	Component	Low-density lipoprotein particle	IBA
GO:0034364	Component	High-density lipoprotein particle	IBA
GO:0034364	Component	High-density lipoprotein particle	IDA	210174, 3104518, 9211985, 15464323, 21571275
GO:0034364	Component	High-density lipoprotein particle	IEA
GO:0034364	Component	High-density lipoprotein particle	TAS	27477018
GO:0034366	Component	Spherical high-density lipoprotein particle	IDA	16682745
GO:0034375	Process	High-density lipoprotein particle remodeling	IDA	4335615, 21481393
GO:0034380	Process	High-density lipoprotein particle assembly	IDA	190223
GO:0034384	Process	High-density lipoprotein particle clearance	IC	12651854
GO:0034774	Component	Secretory granule lumen	TAS
GO:0035025	Process	Positive regulation of Rho protein signal transduction	IDA	23726972
GO:0042157	Process	Lipoprotein metabolic process	IEA
GO:0042158	Process	Lipoprotein biosynthetic process	IEA
GO:0042627	Component	Chylomicron	IBA
GO:0042632	Process	Cholesterol homeostasis	IDA	21571275
GO:0042632	Process	Cholesterol homeostasis	IMP	15464323
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	8049247, 17676061, 18719128, 20133843, 20884842, 22184756, 22609356, 24316228, 24702826
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043534	Process	Blood vessel endothelial cell migration	IEA
GO:0043691	Process	Reverse cholesterol transport	IMP	15464323
GO:0045499	Function	Chemorepellent activity	IDA	23726972
GO:0048018	Function	Receptor ligand activity	IDA	27477018
GO:0050728	Process	Negative regulation of inflammatory response	IDA	21571275
GO:0050766	Process	Positive regulation of phagocytosis	IDA	20495215
GO:0050821	Process	Protein stabilization	IDA	17655203, 20495215
GO:0050919	Process	Negative chemotaxis	IDA	23726972
GO:0051180	Process	Vitamin transport	IMP	15140193
GO:0051496	Process	Positive regulation of stress fiber assembly	IDA	23726972
GO:0055090	Process	Acylglycerol homeostasis	IBA
GO:0055091	Process	Phospholipid homeostasis	IDA	21571275
GO:0060228	Function	Phosphatidylcholine-sterol O-acyltransferase activator activity	IBA
GO:0060228	Function	Phosphatidylcholine-sterol O-acyltransferase activator activity	IDA	4335615
GO:0060354	Process	Negative regulation of cell adhesion molecule production	IDA	21571275
GO:0060761	Process	Negative regulation of response to cytokine stimulus	IDA	21571275
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0070328	Process	Triglyceride homeostasis	IDA	21571275
GO:0070371	Process	ERK1 and ERK2 cascade	IDA	23726972
GO:0070508	Process	Cholesterol import	IMP	14718538
GO:0070653	Function	High-density lipoprotein particle receptor binding	IPI	10764676, 12651854
GO:0071402	Process	Cellular response to lipoprotein particle stimulus	IDA	27477018
GO:0071402	Process	Cellular response to lipoprotein particle stimulus	IDA	27477018
GO:0071682	Component	Endocytic vesicle lumen	TAS
GO:0071813	Function	Lipoprotein particle binding	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0090205	Process	Positive regulation of cholesterol metabolic process	IDA	4335615
GO:0120020	Function	Cholesterol transfer activity	IBA
GO:0120020	Function	Cholesterol transfer activity	IDA	9651324
GO:0120020	Function	Cholesterol transfer activity	IEA
GO:0120020	Function	Cholesterol transfer activity	IMP	15464323
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IDA	23726972
GO:1902995	Process	Positive regulation of phospholipid efflux	IDA	27472885
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1903561	Component	Extracellular vesicle	IBA
GO:1904646	Process	Cellular response to amyloid-beta	IDA	23459077, 29518356

Other IDs

• MIM: 107680
• HGNC: 600
• e!Ensembl: ENSG00000118137

Protein

• UniProt ID: P02647
• Protein name: Apolipoprotein A-I (Apo-AI) (ApoA-I) (Apolipoprotein A1) [Cleaved into: Proapolipoprotein A-I (ProapoA-I); Truncated apolipoprotein A-I (Apolipoprotein A-I(1-242))]
• Protein function: Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP comple
• PDB: 1AV1, 1GW3, 1GW4, 1ODP, 1ODQ, 1ODR, 2MSC, 2MSD, 2MSE, 2N5E, 3K2S, 3R2P, 4V6M, 6CC9, 6CCH, 6CCX, 6CLZ, 6CM1, 6PTS, 6PTW, 6W4E, 6W4F, 7KJR, 7RSC, 7RSE, 8EQS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01442	Apolipoprotein	69 → 259	Apolipoprotein A1/A4/E domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Major protein of plasma HDL, also found in chylomicrons. Synthesized in the liver and small intestine. The oxidized form at Met-110 and Met-136 is increased in individuals with increased risk for coronary artery disease, such as in car
• Sequence:

  MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGS
  ALGKQLNLKLLDNWDSVTSTFSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAK
  VQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHELQEKLSPLGEEMRDRARAHV
  DALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
  GLLPVLESFKVSFLSALEEYTKKLNTQ

• 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
APOLIPOPROTEIN A-I (MARBURG)	Pathogenic	rs121912716	RCV000019500	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APOLIPOPROTEIN A-I (MILANO)	Pathogenic	rs28931573	RCV000019498	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APOLIPOPROTEIN A-I (MUNSTER3C)	Pathogenic	rs121912720	RCV000019503	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APOLIPOPROTEIN A-I (NORWAY)	Pathogenic	rs121912718	RCV000019502	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs372520221, rs781350389	RCV002439206 RCV004417719 RCV005453055	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial amyloid polyneuropathy, Iowa type	Likely pathogenic; Pathogenic	rs372520221, rs28931574, rs121912724, rs2134231440, rs121912726, rs28931575, rs387906571, rs121912729, rs121912730	RCV005040302 RCV000019506 RCV004555838 RCV004555841 RCV004555842 RCV004555844 RCV004555845 RCV004555846 RCV004555847	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial visceral amyloidosis, Ostertag type	Likely pathogenic; Pathogenic	rs1591331259, rs28931574, rs781350389	RCV003314532 RCV005249993 RCV002493133	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoalphalipoproteinemia, primary, 2	Likely pathogenic; Pathogenic	rs372520221, rs2134230655, rs2134231221, rs28931574, rs1440319688, rs121912723, rs387906570, rs121912725, rs121912727, rs2134233729, rs781350389	RCV005040302 RCV001837078 RCV002251036 RCV005003396 RCV004555836 RCV004555837 RCV004555839 RCV004555840 RCV004555843 RCV000019523 RCV002493133	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoalphalipoproteinemia, primary, 2, intermediate	Likely pathogenic; Pathogenic	rs372520221, rs28931574, rs121912718, rs781350389	RCV005040302 RCV005003396 RCV004555928 RCV002493133	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AAPOAI AMYLOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOID POLYNEUROPATHY, IOWA TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, FAMILIAL VISCERAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, HEREDITARY SYSTEMIC 3	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APOA1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APOLIPOPROTEIN A-I (BALTIMORE)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APOLIPOPROTEIN A-I (GIESSEN)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APOLIPOPROTEIN A-I (MUNSTER3B)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APOLIPOPROTEIN A-I (MUNSTER4)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APOLIPOPROTEIN A-I AMYLOIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apolipoprotein A-I deficiency	Uncertain significance	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATAXIA WITH VITAMIN E DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial High Density Lipoprotein Deficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL VISCERAL AMYLOIDOSIS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, FAMILIAL	—	Disgenet	★★☆☆☆ 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
Hypoalphalipoproteinemia, primary, 1	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMBRANOUS GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AApoAI amyloidosis	AApoAI amyloidosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abetalipoproteinemia	Abetalipoproteinemia	Pubtator	7852858	Inhibit	★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	19433014		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	16039279, 28992985, 30984786, 31324073, 8176109		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	19122170		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	31188743		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	29183667		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	14666619		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	14666619		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	19381893		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	8293178, 8737931		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28698208		★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	33016012	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19863188, 23181436, 28943632, 37307028	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26491253	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	30474860		★☆☆☆☆ Found in Text Mining only
Amyloid nephropathy	Amyloid Nephropathy	BEFREE	28953655		★☆☆☆☆ Found in Text Mining only
Amyloid Neuropathies, Familial	AMYLOID CARDIOMYOPATHY	BEFREE	8293178		★☆☆☆☆ Found in Text Mining only
Amyloid Polyneuropathy, Iowa Type	Amyloid Polyneuropathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis	Amyloidosis	BEFREE	10487826, 11406659, 14636880, 14986480, 15131802, 15558533, 16221867, 17507040, 18285420, 19130896, 19235761, 19324996, 20616715, 21820994, 22094129, 22229410, 23209431, 23730806, 24702826, 25565309, 26193960, 26299174, 26363436, 26515634, 26661731, 27240838, 27464946, 28634774, 28887204, 28941727, 28953655, 29623474, 29968409, 30184436, 30291643, 30665372, 31002190, 9461086, 9688527		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	10854214, 1502149, 19324996, 23209431, 26562506, 28953655, 29455155, 30291643, 30665372, 32571483, 33573822, 35408859, 35502644, 37431665, 9461086, 9688527	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	LHGDN	17600344		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	32571494	Stimulate	★☆☆☆☆ Found in Text Mining only
Amyloidosis Familial	Amyloidosis	Pubtator	10487826, 11849445, 12050338, 1619367, 17600344, 21458433, 23233678, 25950566, 26562506, 27464946, 29455155, 30004693, 30665372, 31870425, 8675681, 9461086, 9916936	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis familial visceral	Visceral amyloidosis	Pubtator	10487826, 24925720, 26299174, 28953655, 35502644	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis Primary Cutaneous	Amyloidosis	Pubtator	21820994	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis, Familial	Amyloidosis	BEFREE	15131802, 24702826, 26562506, 26605794, 28887204, 29174954, 30004693, 9916936		★☆☆☆☆ Found in Text Mining only
Amyloidosis, familial visceral	Amyloidosis	UNIPROT_DG	1502149, 2123470, 3142462, 8208902		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis, familial visceral	Amyloidosis	GENOMICS_ENGLAND_DG	16925563, 27240838, 27604308, 31482740		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis, familial visceral	Amyloidosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis, familial visceral	Amyloidosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	8293178, 8737931		★☆☆☆☆ Found in Text Mining only
Amyloidosis, Primary Cutaneous	Amyloidosis	BEFREE	10198255		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28437840		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	34518331	Inhibit	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	39278909	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29556328		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	19023114, 20378559, 28436274	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	28436274		★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	15489088	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	26774504, 30982767	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	25789510, 30982767		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	17109061	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	29443370, 29915952		★☆☆☆☆ Found in Text Mining only
Apolipoprotein A-I deficiency	Apolipoprotein A1 Deficiency	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Arteriosclerosis	Arteriosclerosis	BEFREE	10195942, 10407497, 10534470, 10882340, 11122500, 11463575, 11477092, 11943562, 12642784, 12742997, 12957326, 14980712, 15767853, 16258026, 16497661, 17113061, 17353664, 17475009, 17553166, 17635078, 18063807, 18287885, 18322452, 18489910, 18841006, 1901417, 19066833, 20078196, 2064632, 21103356, 21164355, 22005457, 22229410, 2261842, 23564081, 24391744, 24407029, 24523407, 24702826, 25036240, 2556454, 25759391, 25979856, 26048453, 26323267, 26363436, 26562506, 27017521, 27630170, 27821400, 27842439, 27932352, 28069582, 28111551, 28167355, 28434000, 28522696, 28710476, 28731861, 2876946, 28774484, 28870546, 28926407, 28939717, 28941727, 29122817, 29150341, 29154726, 29248767, 29337706, 29423541, 29582212, 29853648, 2989400, 30004693, 30079772, 30410356, 30949716, 31003938, 31382484, 31386835, 31776208, 31840535, 6314145, 6402711, 6420790, 7858910, 7897323, 8413656, 8772693, 8782849, 8840853, 9253538, 9323596, 9327769, 9467708, 9555874, 9587674, 9799211, 9884386		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	LHGDN	18063807		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	24357062		★☆☆☆☆ Found in Text Mining only
Arthritis Gouty	Gouty arthritis	Pubtator	15115711	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	22649206	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	34996506	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16778393	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18664547, 36639772	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	BEFREE	16500633		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	30620448		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21972383, 24813055, 30255743		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	18458655	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia with vitamin E deficiency	Friedreich Ataxia	CTD_human_DG	18458655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	10195942, 10407497, 10534470, 10882340, 11122500, 11463575, 11477092, 11943562, 12642784, 12742997, 12957326, 14980712, 15767853, 16258026, 16497661, 17113061, 17353664, 17475009, 17553166, 17635078, 18287885, 18322452, 18489910, 18841006, 1901417, 19066833, 2064632, 21103356, 21164355, 22005457, 22229410, 2261842, 23564081, 24391744, 24407029, 24523407, 24702826, 25036240, 2556454, 25759391, 25979856, 26048453, 26323267, 26363436, 26562506, 27017521, 27630170, 27821400, 27842439, 27932352, 28069582, 28111551, 28167355, 28434000, 28522696, 28710476, 28731861, 2876946, 28774484, 28870546, 28926407, 28939717, 28941727, 29122817, 29150341, 29154726, 29159568, 29248767, 29423541, 29582212, 29853648, 2989400, 30004693, 30079772, 30410356, 30949716, 31003938, 31382484, 31386835, 31776208, 31840535, 6314145, 6402711, 6420790, 7858910, 7897323, 8413656, 8743897, 8772693, 8782849, 8840853, 9253538, 9323596, 9327769, 9467708, 9555874, 9587674, 9799211, 9884386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	10895970, 11557764, 11792730, 12576517, 17553166, 19181627, 19847320, 20385548, 21103356, 22219194, 22699570, 23233678, 24464187, 25170076, 26562506, 26758372, 28238629, 29162127, 2989400, 30004693, 30333156, 3118360, 33086557, 33430253, 33640328, 34382908, 35152150, 35304099, 35546071, 36525992, 6413973, 8282791	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	LHGDN	12742997, 15001567, 17475009, 17693625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	19471321, 29396407, 31842627	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29419390		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	26661731		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34504056	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	34504056	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16380821, 28458671		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	16380821		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	CTD_human_DG	12074830		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta Thalassemia	Beta thalassemia	Pubtator	34559910	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	26375446	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	31371966		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30500773		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	22619369	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	32383346	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	2173174		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	22532455	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	24762496	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18668212, 20842444, 23829168, 24926085, 24969553, 31114339, 31208017, 31290708		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	35627123	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19400944	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21206008, 23829168, 34904415, 35627123, 40571309	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	30850364	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	9683776		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17828420, 24008390	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22726459, 29998871	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23935864, 24283668, 3007489, 6311811, 9507986	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30500773		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29960043		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	21708402	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33923185	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29689304, 35858961	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25427637, 31912682	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	11531831		★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21283904, 30745873		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29447225		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	29447225	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28595037		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	11827556, 15767855, 16800005, 16815124, 17298957, 17683612, 17967773, 18565099, 20480398, 20847045, 22173797, 23479152, 24273187, 24464187, 24508624, 25395590, 26868508, 28099205, 28219664, 28296203, 28341375, 28372564, 28450350, 28458671, 28731861, 28767713, 28887204, 28992985, 29248767, 29264753, 29371248, 29440748, 30028049, 30092227, 30219475, 30249788, 30926534, 31111240, 31814132, 8546746, 9701454		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	15314690, 17683612, 18565099		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	22219194, 24091356, 24273187, 24464187, 25170076, 26824674, 26842615, 28219664, 29776362, 30249788, 30298424, 31106471, 32174066, 8943493	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	26868508, 27418968	Inhibit	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	33086507, 39837394	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	20739292, 20847045, 26661731		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	27554116, 28635360, 32644829, 32891149	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	32981134, 39889961	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	32981134	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	12011770, 16197951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	CTD_human_DG	19433014		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	26363640, 27169840, 28238629, 30367981, 31498021, 31708728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	9701454		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	16612068		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	17853951	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	15115973		★☆☆☆☆ Found in Text Mining only
Cholesteryl Ester Transfer Protein Deficiency	Hyperalphalipoproteinemia	BEFREE	10809165, 1505654, 19023137, 1980685, 2215607, 30430582, 8621767		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	33016012	Inhibit	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	27317841		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	21820994, 30920627		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	23730806, 28123142, 28478047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	26086425		★☆☆☆☆ Found in Text Mining only
Chylomicron retention disease	Chylomicron retention disease	Pubtator	22104167	Associate	★☆☆☆☆ Found in Text Mining only
Chylomicron retention disease	Chylomicron Retention Disease	BEFREE	22441101		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	8550047		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	20739292		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	22701550	Inhibit	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30241302, 34135129	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	36472389	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28565870, 31101050, 9683776		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	7615825	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28710487, 30098223, 30510601, 31101050, 31300050, 31802946		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21199170, 26463353, 27662660, 30542696, 31300050, 34564974, 39889939	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30098223	Inhibit	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	25115832, 27015844		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	31729238		★☆☆☆☆ Found in Text Mining only
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	BEFREE	29738371		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27317841, 29447225, 30261322, 9916936		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	30372543		★☆☆☆☆ Found in Text Mining only
Corneal Opacity	Corneal opacity	Pubtator	1898657	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10840998, 10942211, 11122500, 11306522, 11349008, 11408005, 11602504, 12875674, 1415250, 14962947, 1541665, 15657615, 16039279, 16497661, 18398670, 1900041, 19473658, 1975178, 19878569, 21443680, 21712729, 21875686, 21930241, 22359512, 24713591, 2569310, 26173491, 26323267, 26535656, 28721149, 2876946, 28775061, 29051568, 29074586, 29853648, 30155718, 3115275, 7583566, 7814010, 8096444, 8840853, 8934336, 9125314, 9211063, 9523212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	CTD_human_DG	27135400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	10803441, 10858436, 10895970, 11349008, 12576517, 12754559, 12964943, 15464323, 16403951, 1678604, 18801202, 19014618, 20307520, 21838883, 22297598, 22834788, 24552169, 26173491, 26261632, 27135400, 27350024, 27418968, 29074586, 3082191, 33667465, 34313350, 34382908, 36574567, 37686357, 39295604, 39614436, 9183304, 9799092	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	10840998, 10942211, 11122500, 11306522, 11408005, 11602504, 12642784, 12709788, 12747600, 12754559, 12964943, 1415250, 14741073, 14962947, 1541665, 15464323, 15657615, 16403951, 16497661, 16721833, 18398670, 1900041, 19014618, 19473658, 1975178, 21410987, 21712729, 21875686, 21930241, 22297598, 22359512, 22959663, 24713591, 25470794, 2569310, 26173491, 26323267, 26535656, 28721149, 2876946, 28775061, 28806974, 29074586, 29302464, 29853648, 30941792, 31074535, 3115275, 7583566, 7695175, 7814010, 7825589, 8096444, 8755647, 8840853, 8934336, 9125314, 9211063, 9523212, 9892774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	1415250, 8755647	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	15177130, 15657615, 16403951, 16931800, 18280807, 18398670, 18801202		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	CTD_human_DG	27135400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	3095836	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	11230170, 17654446, 19282639, 21804106, 24635344, 27554116, 28320750, 29439709, 29649363, 32203549, 32437778, 35527125, 6406984, 8282791	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10407493, 10559020, 10840998, 10942211, 11122500, 11306522, 11408005, 11444649, 11602504, 11944029, 11996960, 12624133, 12642784, 1415250, 14962947, 1541665, 15657615, 16497661, 17543199, 17654446, 18378026, 18398670, 1900041, 19473658, 1975178, 2064632, 21712729, 21875686, 21930241, 22359512, 24713591, 2569310, 26173491, 26323267, 26535656, 28502493, 28721149, 2876946, 28775061, 29074586, 29439709, 29853648, 30062502, 3115275, 7583566, 7814010, 8096444, 8115204, 8640397, 8782849, 8840853, 8934336, 9125314, 9211063, 9523212, 9892774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	LHGDN	15585206, 17654446, 17825930		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	25003194		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	25003194	Associate	★☆☆☆☆ Found in Text Mining only
Cryoglobulinemia	Cryoglobulinemia	Pubtator	35677050	Stimulate	★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	16403951	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	33050003	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25849372, 25880168		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	17298956, 17298957, 18805838		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	17298957		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	26491253	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31635762		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12716788, 14741073, 14988232, 20116212, 26168996, 28683835, 28767713, 28848612, 29162363, 29802959		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	34665686	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	10412780, 14510906, 17654446, 22675253, 28238629, 31504048, 34472376, 3936351, 40016689	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12716788, 14741073, 14988232, 19273745, 20116212, 26168996, 28683835, 28767713, 28848612, 29162363, 29802959, 30261322, 30658194, 6436127, 9701454		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34159370, 37686357	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	20622162	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	14510906, 17654446, 29025405, 33667465, 3936351	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26337083	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10491765, 31199772		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11853190, 12397529, 12957326, 14510906, 15910632, 16781717, 17287470, 17727676, 2064632, 22017455, 25470794, 25550127, 2562831, 28031419, 28072742, 28073663, 28502492, 28848612, 29031392, 29453140, 29626583, 29731826, 30045045, 30092227, 30742993, 30744100, 30783475, 30905491, 3936351, 8817108		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	18332268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	CTD_human_DG	18332268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28073663, 28478047		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	11853190, 12397529, 18848320		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	LHGDN	18848320		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	19108832, 21360684		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	19108832	Inhibit	★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	34929494	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	10803441, 21889769, 23829168, 25117371, 27173266, 28610615, 29758034	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	12678656, 15529065, 15751988, 16375582, 21122859, 23829168, 24038215, 25117371, 25979856, 26683793, 27094595, 27173266, 28912560, 30631647, 30658194, 3105587		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	33717107	Inhibit	★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	17727676		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	19756734	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	12123106		★☆☆☆☆ Found in Text Mining only
Familial HDL deficiency	Glucocorticoid Deficiency	BEFREE	11181755, 14709355, 1898657, 19473658, 26687706		★☆☆☆☆ Found in Text Mining only
Familial hypercholesterolemia - homozygous	Hypercholesterolemia	BEFREE	25965722, 28255870		★☆☆☆☆ Found in Text Mining only
Familial LCAT deficiency	LCAT Deficiency	GENOMICS_ENGLAND_DG	10073988		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	11531831		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	11878923, 19289417, 28119353, 30473024		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	17464986		★☆☆☆☆ Found in Text Mining only
Fish-Eye Disease	Fish-Eye Disease	BEFREE	21074466, 9160810		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	28334053		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	29447225		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	27167107	Associate	★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	7616125	Associate	★☆☆☆☆ Found in Text Mining only
Gangliosidosis GM1	Gm1 gangliosidosis	Pubtator	15890646	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	28255870		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23067370		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	40617935	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23067370		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24762496, 40617935	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	28406696	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	28953655, 37511514	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	23205849, 31980684	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	28698208		★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	15115711, 27094595	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	35846879	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	24007717		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	11266606, 29051568, 9916936	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28178939, 29447225, 9916936	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29447225, 9916936		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	10412780, 23219399, 8943493	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	19471321	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	22532455	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Fever with Renal Syndrome	Hemorrhagic fever with renal syndrome	Pubtator	20797315	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic amyloidosis	Hepatic amyloidosis	BEFREE	14986480		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	27015844	Inhibit	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	25115832, 27015844	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	24008390	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	12107072, 25115832, 8696946		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	26053398	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	15378696, 19424620		★☆☆☆☆ Found in Text Mining only
Heymann Nephritis	Heymann Nephritis	CTD_human_DG	7900854		★☆☆☆☆ Found in Text Mining only
HYPERALPHALIPOPROTEINEMIA 1	Hyperalphalipoproteinemia	BEFREE	19023137, 2215607		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	27489079		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	11486244, 15751988, 20413969, 2215607, 23436135, 31208017		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	22243772	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	3114402	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	12624133, 12742997, 16828905, 26386212, 31766415, 9699897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, Familial	Hypercholesterolemia	LHGDN	12742997		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	Pubtator	20622162	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29626583, 29802959, 30259778		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	Pubtator	26758372, 27457726	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	27457726		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	10559017, 19917453, 21576418, 2261842, 27323196, 2883893, 29198898		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia Familial Combined	Hyperlipidemia	Pubtator	10064730, 10357835, 11181747, 14551155, 2883893, 8100834, 9062353	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	11031215, 11583715, 14551155, 14764618, 15001527, 15469419, 16629853, 16828905, 16938803, 17950741, 19732897, 2497719, 25281277, 7889654, 9062353, 9812922		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	LHGDN	17698072		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	10357835, 21609439, 22916254, 27323196, 2883893, 31862910	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	Pubtator	27573733	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	9026529		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	10428988, 16721833, 22243772, 22675253, 27112635, 9026529	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	12742997, 16721833, 16828905, 26386212, 31766415, 9699897		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIb	Hyperlipoproteinemia	BEFREE	209911, 9026529		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type III	Hyperlipoproteinemia	BEFREE	2883893		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IV	Hyperlipoproteinemia	BEFREE	15820086, 16828905, 3115275		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	BEFREE	11944029, 4136225, 7595070, 87831		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	1797940	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	15982502, 18801202, 25489783, 3082191, 33667465, 37154151	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	12030900		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	14741073, 19408098, 23281427, 24963038, 25489783, 29162363, 30193001, 30261322, 30317431, 30372543, 30658194		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	18224302		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	Pubtator	32575434	Associate	★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	7628462	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	10895970, 11306522, 17919884, 23216302, 24919401, 3114402, 8445335	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	LHGDN	15868628		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	28940111		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemia, Familial	Hypoalphalipoproteinemia	BEFREE	1981893, 21875686, 25281277, 26687706, 3081805, 9931341		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemia, Familial	Hypoalphalipoproteinemia	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemia, Familial	Hypoalphalipoproteinemia	ORPHANET_DG	8240372, 8282791		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	10064737, 11292828, 12048121, 15767853, 16497661, 22727790, 2877676, 28887204, 30430582, 8096444, 8240372, 9012641, 9160810, 9253538, 9931341		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	11306522, 11792730, 1619367, 1898657, 1981893, 20884842, 21458433, 22297598, 23066790, 28969676, 30333156, 8473493, 9654259	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	LHGDN	17991432		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	25565309	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemia Familial 2	Hypoalphalipoproteinemia	Pubtator	22659251	Associate	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemia Familial Apolipoprotein B	Hypoalphalipoproteinemia	Pubtator	1901417	Associate	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	10807747		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	17507040	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	27457726		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	27457726, 29301248	Associate	★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	15949702	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	38190128	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	CTD_human_DG	7900854		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	20463180		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	33016012	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	36674438	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	20078196		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	18073484, 18805838, 20739292, 27865998, 31029938		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	17507040	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	25405865	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31184596		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	15115711, 20622162, 26553260, 30556889	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	31101050		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	27188739, 29557746		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	34559910	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	28595037		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27427388, 28635360, 30160528		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23730806, 26299174, 28073663, 31480040		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	31480040, 32174066	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	29968409		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	17600344	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	16806561, 21820994, 30920627		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	26537097	Associate	★☆☆☆☆ Found in Text Mining only
Laryngitis	Laryngitis	Pubtator	37431665	Associate	★☆☆☆☆ Found in Text Mining only
Lecithin Acyltransferase Deficiency	Lecithin Acyltransferase Deficiency	BEFREE	1642689, 30742993, 7327552		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	31422044		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	23849470	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29180721		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	27478070		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	26617857		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	CTD_human_DG	6816881		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12679171, 1569377, 16236546, 1654887, 21520143, 21649721, 24008390, 24283668, 27015844, 29447225, 30486825, 30510601, 31376682, 8003099, 9374131		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21472284		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15949702, 8550047		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	15949702	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Alcoholic	Liver cirrhosis	Pubtator	34033144	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	15949702, 17600344, 23935864	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases Alcoholic	Liver disease	Pubtator	15949702	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	33573822, 36652164	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12679171, 16236546, 1654887, 21220007, 27015844, 29447225, 9374131		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18257091		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	19180532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	25105437, 36674438	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	33640328	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26573664, 31377780, 7488287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	37653176	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	28698208, 30404605	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	33595494	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	23056237		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18668212, 20842444, 23829168, 24969553, 31114339, 31208017, 31290708		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	26537097		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	19180532		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29960043		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21283904, 30745873		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30045045		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21334870		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	15378696, 19424620		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30500773		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21283904, 25265318, 26996551, 28710487, 29899427, 30466099, 30510601, 30987719, 31101050, 31374929, 9683776		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28565870, 31101050, 9683776		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	CTD_human_DG	7900854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	BEFREE	21222216		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	25413266	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31635762		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	19408098, 29396262, 30410356		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	21410987, 22297598, 23215737, 26687706, 26824674, 29574070	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	12957326, 16828905, 17287470, 18988892, 20193037, 21122859, 21410987, 22297598, 22399527, 23215737, 24508624, 25653052, 26824674, 28413474, 28677510, 29154726, 29277345, 30584439, 30658194, 31085379		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	28824418, 31029938		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	30004304		★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	23684512		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	30987719	Associate	★☆☆☆☆ Found in Text Mining only
Mucositis	Mucositis	Pubtator	25003194	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11266606, 12050338, 1502149, 15146166, 15337168, 21458433, 23066790, 24603325, 25881608, 31341020	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	31598156		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18805838, 25468275, 31369181		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33086557	Inhibit	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	35100989	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	12011770, 16801176, 18682504, 19217440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	12127051, 14962947, 15256516, 15258834, 15488874, 16801176, 19014618, 19473658, 20660328, 20826588, 24801707, 26073400, 26605794, 27665230, 29074586, 30376729, 30411527, 3092050, 3608115, 8088507, 8176109, 9241743, 9259986		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	15489088, 23209431, 23697869, 25170076, 30298424, 39295604	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	LHGDN	18682504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	20826588, 21443680, 26605794, 29051568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	Pubtator	38190128	Associate	★☆☆☆☆ Found in Text Mining only
Myopia Degenerative	Myopia	Pubtator	38190128	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	26168996		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29556328, 30510601		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10208849, 16051329, 20399916, 21220007, 21283904, 22851220, 2550179, 28029653, 28595037, 28828863, 29653287, 29960043, 30466099, 31300050, 31350263, 31356236, 9683776		★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	BEFREE	16221867, 25565309		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	BEFREE	16221867, 25565309		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	BEFREE	7595070, 8725162		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	15827892, 28877724, 7595070, 8725162		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	28953655	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	37511514	Stimulate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	21833997	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27734225		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25227208		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	8686727		★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	23684512		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31503515		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30410356		★☆☆☆☆ Found in Text Mining only
Nuchal bleb, familial	Nuchal Bleb	BEFREE	19732897, 25281277, 9026529		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	12055319, 14510906, 20970753, 22016100, 25137265, 27173266, 28274171, 28969676, 29758034, 34472376	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	14510906, 15130779, 17287470, 18565099, 19408098, 20193037, 20480398, 21122859, 21576418, 23789921, 28631820, 28969676, 29885564, 30742993		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28771179	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	28969676	Associate	★☆☆☆☆ Found in Text Mining only
Obesity Morbid	Obesity	Pubtator	30556889	Associate	★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	9654259	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	22619369, 25849372	Associate	★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	25248404	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	37874452	Stimulate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21283904, 30745873		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31315664	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	24926085		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29123261, 30045045		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24349355	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26337083	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	36360205	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25227208, 28168521, 29067960, 30266682		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	25227208, 37479568	Inhibit	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	25227208, 28943632	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	29776362		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	CTD_human_DG	25137265		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	26612295	Inhibit	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	39304430	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	8105730		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	17600344	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	8105730		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	10593369	Inhibit	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	20426491, 22935150, 27489079, 28413474, 29636060		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	29636060	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	32482257	Stimulate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	18838204		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	18838204	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	2123470		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	30325733		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	17298956, 17298957, 18805838		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	BEFREE	17507040		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	29618920		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21334870		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33586698	Stimulate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	25963774		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	22835076, 23965158, 24118377		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	23965158	Inhibit	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	25970596	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	19023114	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26306861, 39456887	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	26086425		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23409054		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	33016012	Associate	★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	29738371		★☆☆☆☆ Found in Text Mining only
Pyloric Stenosis, Hypertrophic	Congenital hypertrophic pyloric stenosis	BEFREE	23989729		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	26537097		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30240132		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	29618920	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	11853190, 29091568, 8686727		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	32571483	Associate	★☆☆☆☆ Found in Text Mining only
Rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	BEFREE	29618920		★☆☆☆☆ Found in Text Mining only
Rhegmatogenous Retinal Detachment Autosomal Dominant	Rhegmatogenous retinal detachment	Pubtator	29618920	Stimulate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25849372		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	31185305	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	28793282		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	12722515, 17165100		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	24710015, 34135129	Associate	★☆☆☆☆ Found in Text Mining only
Seborrheic keratosis	Seborrheic keratosis	BEFREE	11531831		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	28292509		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	16403951	Associate	★☆☆☆☆ Found in Text Mining only
Senile cardiac amyloidosis	Senile Cardiac Amyloidosis	BEFREE	11531831		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	24885977, 35681439	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	24885977, 26990127, 28317295, 29339066		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	10854214	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	26996551		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	26996551, 28448532	Associate	★☆☆☆☆ Found in Text Mining only
Splenic Hypoplasia	Splenic Hypoplasia	BEFREE	30658194		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37686462	Associate	★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	30259778, 30298424		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	8176109		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	11878923, 24219083, 25451254, 28119353, 28577569, 30473024, 31401190, 8550047		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12923326, 24404153, 32176636, 35627105, 36430456, 37846989	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	15378696, 19424620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stroke	Stroke	Pubtator	28238629	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	27457726		★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	24974575		★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	BEFREE	11181755, 11349008, 15001567, 17372331, 19202195, 24220029, 25904599, 26749169, 3105587, 622047, 6431953, 6790903, 6806810		★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	LHGDN	15001567		★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular disease	Pubtator	17507040	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	18838204		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	28540474, 40429650	Associate	★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	32553624	Associate	★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	27068327		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	18363353		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	23219399		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	Pubtator	23219399	Inhibit	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23631828	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22027750, 25427637, 30625128, 31912682, 35421932	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33120861	Associate	★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	29530785		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	12642784, 16285990, 24963038		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	LHGDN	12642784		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	15464323	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	28540474	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	10854214	Associate	★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	29618920	Stimulate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	10699423		★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	BEFREE	7693760		★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	Pubtator	1797940, 7693760	Associate	★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xanthomatosis Cerebrotendinous	Xanthomatosis	Pubtator	7298854	Associate	★☆☆☆☆ Found in Text Mining only