CETP (cholesteryl ester transfer protein)

Gene

• Entrez ID: 1071
• Gene name: Cholesteryl ester transfer protein
• Gene symbol: CETP
• Synonyms (NCBI Gene): BPIFF, HDLCQ10
• Chromosome: 16
• Chromosome location: 16q13
• Summary: The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcri

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1532624	C>A	Drug-response	Intron variant
rs5742907	G>A,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs779824367	TCAACACCAA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1567476573	->T	Pathogenic	Splice donor variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT887342	hsa-miR-3135b	CLIP-seq
MIRT887343	hsa-miR-3150b-3p	CLIP-seq
MIRT887344	hsa-miR-4733-3p	CLIP-seq
MIRT887345	hsa-miR-4784	CLIP-seq
MIRT887346	hsa-miR-765	CLIP-seq
MIRT2199583	hsa-miR-1237	CLIP-seq
MIRT2199584	hsa-miR-221	CLIP-seq
MIRT2199585	hsa-miR-222	CLIP-seq
MIRT2199586	hsa-miR-3907	CLIP-seq
MIRT2199587	hsa-miR-4297	CLIP-seq
MIRT2199588	hsa-miR-4327	CLIP-seq
MIRT2199589	hsa-miR-548q	CLIP-seq
MIRT2199590	hsa-miR-548v	CLIP-seq
MIRT2199591	hsa-miR-636	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR1H3	Unknown	18562803
NR5A2	Activation	11331284
PPARA	Activation	18481130
SP1	Repression	10669650
SP1	Unknown	12730302
SP3	Repression	10669650
SP3	Unknown	12730302
SREBF1	Unknown	10393213
YY1	Unknown	10393213

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005548	Function	Phospholipid transporter activity	IBA
GO:0005548	Function	Phospholipid transporter activity	IDA	2833496
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	3104518, 24293641
GO:0005615	Component	Extracellular space	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	IBA
GO:0006641	Process	Triglyceride metabolic process	IDA	2833496
GO:0006869	Process	Lipid transport	IDA	3818596
GO:0006869	Process	Lipid transport	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IBA
GO:0008203	Process	Cholesterol metabolic process	IDA	2833496
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IMP	2586614
GO:0008289	Function	Lipid binding	IDA	3818596
GO:0008289	Function	Lipid binding	IEA
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	IC	16670775
GO:0010874	Process	Regulation of cholesterol efflux	IMP	16670775
GO:0015485	Function	Cholesterol binding	IBA
GO:0015485	Function	Cholesterol binding	IDA	2833496
GO:0015914	Process	Phospholipid transport	IEA
GO:0017129	Function	Triglyceride binding	IBA
GO:0017129	Function	Triglyceride binding	IDA	2833496
GO:0030301	Process	Cholesterol transport	IDA	24293641
GO:0030301	Process	Cholesterol transport	IEA
GO:0031210	Function	Phosphatidylcholine binding	IBA
GO:0031210	Function	Phosphatidylcholine binding	IDA	2833496
GO:0031982	Component	Vesicle	IDA	2833496
GO:0032376	Process	Positive regulation of cholesterol transport	IDA	2833496
GO:0034197	Process	Triglyceride transport	IBA
GO:0034197	Process	Triglyceride transport	IDA	24293641
GO:0034197	Process	Triglyceride transport	IEA
GO:0034364	Component	High-density lipoprotein particle	IBA
GO:0034364	Component	High-density lipoprotein particle	IDA	3104518
GO:0034364	Component	High-density lipoprotein particle	IEA
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IBA
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IDA	2833496, 24293641
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IEA
GO:0034374	Process	Low-density lipoprotein particle remodeling	IBA
GO:0034374	Process	Low-density lipoprotein particle remodeling	IDA	2833496
GO:0034375	Process	High-density lipoprotein particle remodeling	IBA
GO:0034375	Process	High-density lipoprotein particle remodeling	IDA	24293641
GO:0034375	Process	High-density lipoprotein particle remodeling	IEA
GO:0034375	Process	High-density lipoprotein particle remodeling	IMP	2586614
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IMP	2586614
GO:0043691	Process	Reverse cholesterol transport	IC	7583561
GO:0043691	Process	Reverse cholesterol transport	IEA
GO:0046470	Process	Phosphatidylcholine metabolic process	IBA
GO:0046470	Process	Phosphatidylcholine metabolic process	IDA	2833496
GO:0055088	Process	Lipid homeostasis	IDA	3818596
GO:0055091	Process	Phospholipid homeostasis	IBA
GO:0055091	Process	Phospholipid homeostasis	IDA	2833496
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070328	Process	Triglyceride homeostasis	IBA
GO:0070328	Process	Triglyceride homeostasis	IDA	2833496
GO:0120020	Function	Cholesterol transfer activity	IDA	2833496, 3600759, 24293641
GO:0120020	Function	Cholesterol transfer activity	IEA
GO:2001140	Process	Positive regulation of phospholipid transport	IDA	2833496

Other IDs

• MIM: 118470
• HGNC: 1869
• e!Ensembl: ENSG00000087237

Protein

• UniProt ID: P11597
• Protein name: Cholesteryl ester transfer protein (Lipid transfer protein I)
• Protein function: Involved in the transfer of neutral lipids, including cholesteryl ester and triglyceride, among lipoprotein particles. Allows the net movement of cholesteryl ester from high density lipoproteins/HDL to triglyceride-rich very low density lipoprot
• PDB: 2OBD, 4EWS, 4F2A
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01273	LBP_BPI_CETP	36 → 211	LBP / BPI / CETP family, N-terminal domain	Family
  PF02886	LBP_BPI_CETP_C	243 → 480	LBP / BPI / CETP family, C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma. {ECO:0000269|PubMed:3281933}.
• Sequence:

  MLAATVLTLALLGNAHACSKGTSHEAGIVCRITKPALLVLNHETAKVIQTAFQRASYPDI
  TGEKAMMLLGQVKYGLHNIQISHLSIASSQVELVEAKSIDVSIQNVSVVFKGTLKYGYTT
  AWWLGIDQSIDFEIDSAIDLQINTQLTCDSGRVRTDAPDCYLSFHKLLLHLQGEREPGWI
  KQLFTNFISFTLKLVLKGQICKEINVISNIMADFVQTRAASILSDGDIGVDISLTGDPVI
  TASYLESHHKGHFIYKNVSEDLPLPTFSPTLLGDSRMLYFWFSERVFHSLAKVAFQDGRL
  MLSLMGDEFKAVLETWGFNTNQEIFQEVVGGFPSQAQVTVHCLKMPKISCQNKGVVVNSS
  VMVKFLFPRPDQQHSVAYTFEEDIVTTVQASYSKKKLFLSLLDFQITPKTVSNLTESSSE
  SVQSFLQSMITAVGIPEVMSRLEVVFTALMNSKGVSLFDIINPEIITRDGFLLLQMDFGF
  PEHLLVDFLQSLS

• Sequence length: 493

Pathways

KEGG:

Cholesterol metabolism

Reactome:

LDL remodeling
HDL remodeling
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux

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
Hyperalphalipoproteinemia 1	Pathogenic; Likely pathogenic	rs2056091646, rs780627434, rs2142001776, rs2543643952, rs575020601, rs5742907, rs1567476573	RCV001780486 RCV001780766 RCV001780767 RCV003486308 RCV003486309 RCV000019076 RCV000019080	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal circulating lipid concentration	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CETP-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTEROL-ESTER TRANSFER PROTEIN DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary artery disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATION OF MACULA AND POSTERIOR POLE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERALPHALIPOPROTEINEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High density lipoprotein cholesterol level quantitative trait locus 10	Benign; association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE II	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRIGLYCERIDEMIA	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	17310124, 18783479, 19728844, 23891427, 28073769, 29570220, 31504738		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	17310124		★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	BEFREE	18221399		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	21906714, 24393350, 24498989, 24608419, 25629512, 26503844, 28456421, 28918250, 29977615, 30315903		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	23455636		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	23455636, 26691988		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	20068209, 21892657, 22122979, 23181436, 25260850	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	27033407	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	15036597, 22122979, 25260850		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	28777751		★☆☆☆☆ Found in Text Mining only
Amyloidosis cutis dyschromia	Amyloidosis Cutis Dyschromia	BEFREE	7583564		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	11553004, 38265339	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29188294, 9184245		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10064724, 10092998, 10195942, 10581080, 10601244, 10619997, 10945721, 10978256, 10998455, 11086331, 11111094, 11322777, 11397708, 11431184, 11454014, 11689217, 11872695, 12032161, 12588754, 12642786, 12877809, 14595001, 14660992, 14984434, 14998629, 15026427, 15256762, 15342674, 15766738, 15767853, 16603720, 16946130, 17069349, 17272756, 17293475, 17353664, 18243217, 18599739, 18620517, 19023137, 19056069, 19131637, 19135042, 19200546, 19220285, 19345354, 19564641, 19815603, 19815817, 19895939, 20431066, 20556633, 20799898, 21122682, 21479674, 21488146, 21609439, 21787337, 21899732, 21909703, 22854712, 22918042, 23039379, 23181436, 23625977, 23891427, 24422575, 24490861, 25470794, 25486007, 26683793, 26848159, 27454452, 28422089, 28428219, 28637178, 28893253, 28965203, 29174438, 29317793, 29424255, 29526535, 29674325, 29867549, 30409998, 30980187, 31366894, 31461490, 31504738, 31586754, 31599473, 31697015, 31843957, 7560101, 7830031, 8964591, 9420339		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	25918132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	10064724, 10092998, 10195942, 10581080, 10601244, 10619997, 10945721, 10978256, 10998455, 11086331, 11111094, 11322777, 11397708, 11431184, 11454014, 11689217, 11872695, 12032161, 12588754, 12642786, 12877809, 14595001, 14660992, 14984434, 14998629, 15026427, 15256762, 15296707, 15342674, 15766738, 15767853, 16603720, 16946130, 17069349, 17272756, 17293475, 17353664, 18243217, 18599739, 18620517, 19023137, 19056069, 19131637, 19135042, 19200546, 19220285, 19345354, 19564641, 19815603, 19815817, 19895939, 20431066, 20556633, 20799898, 21122682, 21479674, 21488146, 21609439, 21787337, 21899732, 21909703, 22854712, 22918042, 23039379, 23181436, 23625977, 23891427, 24422575, 24490861, 25470794, 25486007, 26683793, 26848159, 27454452, 27512081, 27750148, 28422089, 28428219, 28431663, 28637178, 28893253, 28965203, 29174438, 29304079, 29317793, 29424255, 29526535, 29674325, 29867549, 30409998, 30980187, 31331193, 31366894, 31461490, 31504738, 31586754, 31599473, 31697015, 31843957, 7560101, 7583564, 7820935, 7830031, 8964591, 9420339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	10412772, 12055319, 14998629, 18243217, 19056069, 19733717, 21609439, 21899732, 23181436, 24091356, 26516624, 26773179, 28902926, 31028198, 33122777, 34849601, 34919242, 37929782, 39428345, 40725453, 8644718, 9420339, 9678686	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	LHGDN	12518020, 15811250, 17311515		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	CTD_human_DG	28096968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	37929782, 38127052	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	16623947, 24615107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	LHGDN	16623947, 18393253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	16623947, 32197906	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophy	Atrophy	Pubtator	21892657	Associate	★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	7583564		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	21062971		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	23083790	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30262900		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26458823, 30262900	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	39193372	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38049860	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	12544661, 12639975, 12691171, 15681846, 15856070, 15939053, 17440012, 17531380, 17784782, 17949364, 18243217, 18287799, 18518852, 18620517, 18957472, 20458649, 20645987, 21146168, 21185205, 21985435, 22011848, 23039379, 23083790, 23317399, 24091356, 24422575, 26318399, 27439317, 27608031, 27852117, 28428219, 28767652, 28795686, 28799819, 28828539, 28911944, 29112169, 29112287, 29141072, 29174438, 29317793, 29424255, 29558025, 29726048, 29728394, 29973202, 30420679, 30488780, 30610681, 30745272, 31054484, 31111240, 31215331, 31418269, 31780304		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	12798569, 16882279, 17196207, 17563401, 17949364, 18243217, 20458649, 23039379, 24091356, 27439317, 28425253, 29141072, 29973202, 30420679, 30779729, 34859866, 37407953	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	15856070, 15939053, 16563399, 17587762, 18287799, 18518852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	CTD_human_DG	16544732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Artery Diseases	Carotid artery disease	Pubtator	23039379	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	10619997, 11454014, 21371711, 23039379		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	18243217	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	27717122, 29141072	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	17949364, 18549840, 23083790, 27415775, 29141072, 34919242	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	11553004, 11940367, 18622260, 19273719		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	11940367, 15896905		★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	20082485, 22271356		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	20082485, 22271356		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	7616125	Associate	★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	7616125		★☆☆☆☆ Found in Text Mining only
Cholesterol-ester transfer protein deficiency	Cholesterol-Ester Transfer Protein Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholesteryl Ester Transfer Protein Deficiency	Hyperalphalipoproteinemia	BEFREE	10998455, 11020466, 11086331, 11111094, 11397708, 11500037, 11689208, 11940367, 12091484, 12482565, 14729390, 14967821, 15256762, 15767853, 16855848, 17192423, 17522050, 18680734, 18926541, 18929230, 19200546, 19428034, 21609439, 22122993, 2215607, 22339301, 22464213, 23219720, 24830642, 30029099, 7583564, 7830031, 8318066, 8333866, 8906592, 9194753, 9194754, 9261270		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholesteryl Ester Transfer Protein Deficiency	Hyperalphalipoproteinemia	ORPHANET_DG	10998455, 2586614		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Kidney Diseases	Kidney Disease	BEFREE	19424605, 21765051, 25311932		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	22122979, 22464147, 25260850	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	20068209, 21892657, 22122979, 27033407	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30500525		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36047191	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30342531		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10092998, 10807749, 10861897, 10998455, 11111094, 11689217, 11730826, 11903340, 12104085, 12117730, 12519369, 12642786, 12798569, 14660992, 14732872, 14967821, 14984434, 14998629, 15243211, 15256762, 15377415, 15766738, 16098387, 16680037, 1680788, 16822236, 16855848, 16882279, 17275808, 17287950, 17512305, 17512363, 18063597, 18164013, 18289550, 18787507, 19023137, 19056069, 19168039, 19491422, 1975178, 19784962, 19810818, 20398902, 20799898, 21352420, 21689002, 21899732, 22143414, 22556171, 22854712, 23129316, 23157875, 23758630, 23891427, 24283500, 24737438, 25288221, 25366166, 25547030, 25561046, 25667236, 25725138, 27768712, 27791990, 28506971, 28637178, 29018035, 29234452, 29304861, 29609759, 29630000, 29728394, 30178218, 30544452, 30704580, 30902787, 8675707, 8830936, 9194754, 9420339, 9543093, 9610775		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10092998, 10807749, 10861897, 11325888, 11730826, 11903340, 12104085, 12117730, 12499392, 12519369, 12642786, 12798569, 14660992, 14732872, 14967821, 14984434, 15243211, 15377415, 15655129, 15766738, 15882786, 16086925, 16098387, 16680037, 16684835, 1680788, 16822236, 16855848, 16882279, 17275808, 17287950, 17512305, 17512363, 18063597, 18164013, 18289550, 18560005, 18787507, 18957472, 19023137, 19056069, 19168039, 19491422, 19558216, 1975178, 19784962, 19810818, 20398902, 20799898, 21352420, 21689002, 21899732, 21909703, 22143414, 22403620, 22556171, 22854712, 23129316, 23157875, 23758630, 23891427, 25288221, 25366166, 25470794, 25547030, 25561046, 25667236, 25725138, 27768712, 27791990, 28126828, 28143480, 28506971, 28637178, 29018035, 29083408, 29234452, 29304861, 29609759, 29630000, 29728394, 30029099, 30178218, 30544452, 30704580, 30902787, 8675707, 8830936, 9194754, 9543093, 9610775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	12579494, 15766738, 17275808, 17512363, 18164013, 19056069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	12798569, 14998629, 15849450, 16882279, 17512363, 18243217, 19491422, 19733717, 21899732, 22143414, 22556171, 23050023, 23157875, 23758630, 24283500, 25134189, 25667236, 25725138, 26773179, 26936456, 26946290, 27768712, 28167353, 28209224, 29310573, 30178218, 31028198, 32682401, 34594055, 35768776, 9420339	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	19056069	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	26936456	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	14732872, 14967821, 20855565, 23891427, 25288221, 25547030, 25629512, 29848931, 31860674, 33263263, 37373432, 8675707, 9610775	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10092998, 10807749, 10861897, 11444649, 11689217, 11730826, 11903340, 12104085, 12117730, 12519369, 12642786, 12798569, 14660992, 14732872, 14967821, 14984434, 15243211, 15256762, 15377415, 15694928, 15766738, 16098387, 16680037, 16684835, 1680788, 16822236, 16855848, 16882279, 17275808, 17287950, 17512305, 17512363, 17666459, 18063597, 18164013, 18289550, 18560005, 18787507, 19023137, 19056069, 19168039, 19491422, 1975178, 19784962, 19810818, 19815603, 20398902, 20799898, 21689002, 21899732, 22143414, 22556171, 22854712, 23129316, 23157875, 23758630, 23891427, 24402318, 24634116, 25288221, 25366166, 25547030, 25561046, 25667236, 25725138, 27768712, 27791990, 27900488, 28126828, 28506971, 28637178, 29018035, 29234452, 29304861, 29609759, 29630000, 29728394, 29800275, 29848931, 30178218, 30544452, 30704580, 30902787, 31504738, 8675707, 8830936, 9194754, 9242969, 9543093, 9610775, 9808796		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	12104085, 12117730, 12588754, 14967821, 15585206		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	12871320	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary Restenosis	BEFREE	19815603		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	LHGDN	16553359		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	22854712		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	28542805		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23625977		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	20068209, 21892657, 22122979		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	20068209, 21892657, 22122979	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	19184337, 29332048		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12032161, 15644403, 20398902, 20581105, 22073289, 23555584, 24634116, 26670163, 29523487, 30278356, 30980187, 31665383		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	30200149	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	39428345	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11369008, 12032161, 15644403, 20398902, 20581105, 21689002, 22073289, 23555584, 24634116, 26318399, 26670163, 29523487, 30278356, 30980187, 31665383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	LHGDN	15138631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	20581105, 22073289, 22143414, 26670163, 26984517, 27322064, 30779729	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22073289, 22850130, 23157875, 26670163, 27322064, 29973202, 37407953, 9469586	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	9392500, 9670349		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11369008, 11872695, 12663600, 15138631, 15585206, 15644403, 15766738, 17512305, 17666459, 20006332, 21185205, 21565989, 21689002, 21765051, 22073289, 23157875, 24634116, 25470794, 26318399, 26670163, 26984517, 27488210, 27590083, 28065481, 28395380, 28596970, 28829977, 29083408, 29973202, 30853126, 30980187, 31014095, 31585025, 31597401, 7820935, 9469586		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	11096142, 23555584, 28829977, 31597401		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	19147676		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	14583798, 15296707, 17700364, 19147676, 20556633, 21122682, 23623643, 26694435, 27432781, 28065481, 28099220, 28109622, 28478132, 28802120, 28884824, 28911944, 29155143, 29574070, 30029292, 30107219, 8964591		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	CTD_human_DG	17952847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	LHGDN	18849221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	Pubtator	23555584, 26694435, 26936456, 28315561, 29574070, 36419087, 40428368	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	23772784		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	23772784	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	28425253, 30544452	Associate	★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	25629512, 26691988		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	28173125		★☆☆☆☆ Found in Text Mining only
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	25629512, 26691988		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	22414273, 29197506, 30213825		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	34866179	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	22414273		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	31599189		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	20082485	Stimulate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	20082485	Associate	★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	20082485, 7616125	Associate	★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman syndrome	Pubtator	21970949	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	24393350		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	25205864	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	31800099	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	35757752	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30342531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC LIPASE DEFICIENCY (disorder)	HEPATIC LIPASE DEFICIENCY	BEFREE	18599739		★☆☆☆☆ Found in Text Mining only
HMG CoA lyase deficiency	HMG CoA Lyase Deficiency	BEFREE	18599739		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	21352420		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	21352420		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	20498617		★☆☆☆☆ Found in Text Mining only
HYPERALPHALIPOPROTEINEMIA 1	Hyperalphalipoproteinemia	BEFREE	11086331, 11111094, 11500037, 11689208, 11940367, 12482565, 14729390, 14967821, 15256762, 17192423, 17522050, 18680734, 18926541, 18929230, 19200546, 21609439, 22122993, 2215607, 22339301, 24830642, 30029099, 7583564, 7830031, 8906592, 9194753, 9194754, 9261270		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERALPHALIPOPROTEINEMIA 1	Hyperalphalipoproteinemia	UNIPROT_DG	12091484, 2215607, 8408659		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERALPHALIPOPROTEINEMIA 1	Hyperalphalipoproteinemia	GENOMICS_ENGLAND_DG	27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERALPHALIPOPROTEINEMIA 1	Hyperalphalipoproteinemia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERALPHALIPOPROTEINEMIA 1	Hyperalphalipoproteinemia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercholesterolemia	Hypercholesterolemia	BEFREE	10192749, 17620956, 19345354, 20413969, 21611179, 25486007, 26081744, 29356705, 31366894, 7560101, 7574481, 8550828, 9409281		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	9508004	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	11398140, 15026427, 15856070, 16002074, 16822236, 19558660, 21527752, 9242969		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	LHGDN	15856070, 17848121		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	CTD_human_DG	16030523		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	10428983, 12867535, 28126827		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	CTD_human_DG	10519734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	BEFREE	21609439, 23758630, 25110219, 29197506, 31843957, 7798236		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia Familial Combined	Hyperlipidemia	Pubtator	9683614	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	31311144		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	15256764, 21609439	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	12032161		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	24504152, 28851085	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	11398140, 15026427, 15856070, 16002074, 21527752, 9242969		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	CTD_human_DG	16030523		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIb	Hyperlipoproteinemia	CTD_human_DG	16030523		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type III	Hyperlipoproteinemia	BEFREE	7798236, 8044997		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	BEFREE	11730818		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemias	Hyperlipoproteinemia	CTD_human_DG	2215607, 8408659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	20026784, 20511482	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	10581080, 20511482, 28099220		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	20511482		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	11319713		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	9610775	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoalphalipoproteinemia, Familial	Hypoalphalipoproteinemia	BEFREE	25281277		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	30998801, 7583547		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	19558660	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	11319713		★☆☆☆☆ Found in Text Mining only
Hypotriglyceridemia	Hypotriglyceridemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22122979, 22464147, 25260850		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	18239576, 39428345	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	15896905, 17949364, 28623937, 28648960, 29141072, 30078763		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	16623947	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	LHGDN	18503096		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30425299		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11096142		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	15228446		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	21906714, 25629512, 26854823, 28456421, 32553749, 32666702, 37929782, 40725453	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	30262900		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	20082485, 31599189		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	27488210		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	27488210, 32902719	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	17196207, 18239576, 21767357, 26370976, 27827461, 28629169, 31366177, 31910446, 34859866, 38201907	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	15469403, 15589073, 18239576, 19642912, 22729881, 24373179, 26014924, 26370976, 26507551, 27488210, 27496123, 27827461, 28057378, 28629169, 29548861, 29574070, 29942448, 29975550, 30381540, 30808366, 31016757, 31270430		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASDB_DG	21386085		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	21386085		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	38049860	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10861897, 11689220, 11888533, 11940367, 12902385, 15039125, 15256516, 15585206, 16420563, 16684835, 1680788, 17440012, 17970962, 18622260, 18637884, 20031563, 20031564, 21252145, 24080640, 24533069, 24801707, 25474428, 29141072, 7657837		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	17440012, 17568242, 17970962, 19217440		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	17970962, 18549840, 18637884, 20031564, 21252145, 23083790, 23891427, 29141072, 31739638, 37446094, 7657837	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	10779455, 11056092, 16623947, 23083790		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	23083790, 29396305	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	30544452	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	LHGDN	17555738		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	23181436, 26253899	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23181436, 28777751		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	24373179, 28802640, 29902703, 30293065		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	25486007		★☆☆☆☆ Found in Text Mining only
Nuchal bleb, familial	Nuchal Bleb	BEFREE	25281277		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10754410, 15644403, 17310124, 18454345, 19360375, 19564641, 21488146, 21611179, 21767357, 25548261, 25579610, 25651499, 26313355, 27488210, 29728394, 29747087, 29879115, 29902703, 30213825		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	12055319, 19444232, 25137265, 25651499, 27322064, 32398726, 33500527, 34859866, 36126070	Associate	★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	21767357, 35807893, 36652934	Associate	★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	9116424		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	26458823, 30262900		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	CTD_human_DG	25137265		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	31012439	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	20068209, 21892657, 22122979		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28829977		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	18787502		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	18787502	Associate	★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	31185305	Associate	★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	36192674	Associate	★☆☆☆☆ Found in Text Mining only
Secondary Adrenal Insufficiency	Adrenal Insufficiency	BEFREE	28542805		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	22122979		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	30425299	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	26212254, 30321485, 30425299		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	28676625	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	22414273, 25486007, 29197506, 30213825, 30293065		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	11553004, 18622260, 25547030, 32087417	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular Diseases	BEFREE	10215328, 11431184, 11940367, 14531818, 15644403, 26318399, 29141072, 29525816		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	10412772, 14531818, 23083790, 24830642, 26876146, 29141072, 29525816	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	LHGDN	14531818		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	19263529	Inhibit	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	19263529	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	31148376	Associate	★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	BEFREE	30347344		★☆☆☆☆ Found in Text Mining only