APOC3 (apolipoprotein C3)

Gene

• Entrez ID: 345
• Gene name: Apolipoprotein C3
• Gene symbol: APOC3
• Synonyms (NCBI Gene): APOCIII, Apo-C3, ApoC-3
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs76353203	C>G,T	Pathogenic, protective	Missense variant, coding sequence variant, stop gained
rs121918381	A>G	Pathogenic	Coding sequence variant, missense variant
rs121918382	A>G	Pathogenic	Coding sequence variant, missense variant
rs138326449	G>A	Protective, pathogenic	Splice donor variant
rs140621530	G>T	Protective, likely-benign, pathogenic	Splice donor variant
rs147210663	G>A,T	Protective, pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT696694	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT696692	hsa-miR-6732-3p	HITS-CLIP	23313552
MIRT696693	hsa-miR-5583-3p	HITS-CLIP	23313552
MIRT696691	hsa-miR-34a-3p	HITS-CLIP	23313552
MIRT696690	hsa-miR-10a-5p	HITS-CLIP	23313552
MIRT696689	hsa-miR-10b-5p	HITS-CLIP	23313552
MIRT696688	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT542480	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT696687	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT696686	hsa-miR-4421	HITS-CLIP	23313552
MIRT696685	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT696684	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT696683	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT696682	hsa-miR-769-5p	HITS-CLIP	23313552
MIRT696681	hsa-miR-3926	HITS-CLIP	23313552
MIRT696680	hsa-miR-6895-3p	HITS-CLIP	23313552
MIRT696679	hsa-miR-593-3p	HITS-CLIP	23313552
MIRT696678	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT696677	hsa-miR-3672	HITS-CLIP	23313552
MIRT696676	hsa-miR-6864-3p	HITS-CLIP	23313552
MIRT696675	hsa-miR-548s	HITS-CLIP	23313552
MIRT696674	hsa-miR-6818-3p	HITS-CLIP	23313552
MIRT542483	hsa-miR-4432	PAR-CLIP	21572407
MIRT542482	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT542481	hsa-miR-451b	PAR-CLIP	21572407
MIRT542480	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT542478	hsa-miR-4267	PAR-CLIP	21572407
MIRT542479	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT542477	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT542476	hsa-miR-4793-3p	PAR-CLIP	21572407
MIRT542475	hsa-miR-4486	PAR-CLIP	21572407
MIRT542474	hsa-miR-4696	PAR-CLIP	21572407
MIRT542473	hsa-miR-661	PAR-CLIP	21572407
MIRT542472	hsa-miR-4649-5p	PAR-CLIP	21572407
MIRT542471	hsa-miR-6729-5p	PAR-CLIP	21572407
MIRT542470	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT542469	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT542468	hsa-miR-7703	PAR-CLIP	21572407
MIRT542478	hsa-miR-4267	PAR-CLIP	27292025
MIRT542483	hsa-miR-4432	PAR-CLIP	27292025
MIRT542483	hsa-miR-4432	PAR-CLIP	27292025
MIRT542475	hsa-miR-4486	PAR-CLIP	27292025
MIRT542475	hsa-miR-4486	PAR-CLIP	27292025
MIRT542481	hsa-miR-451b	PAR-CLIP	27292025
MIRT542481	hsa-miR-451b	PAR-CLIP	27292025
MIRT542472	hsa-miR-4649-5p	PAR-CLIP	27292025
MIRT542472	hsa-miR-4649-5p	PAR-CLIP	27292025
MIRT542474	hsa-miR-4696	PAR-CLIP	27292025
MIRT542474	hsa-miR-4696	PAR-CLIP	27292025
MIRT542476	hsa-miR-4793-3p	PAR-CLIP	27292025
MIRT542476	hsa-miR-4793-3p	PAR-CLIP	27292025
MIRT542482	hsa-miR-508-5p	PAR-CLIP	27292025
MIRT542482	hsa-miR-508-5p	PAR-CLIP	27292025
MIRT542470	hsa-miR-6512-3p	PAR-CLIP	27292025
MIRT542470	hsa-miR-6512-3p	PAR-CLIP	27292025
MIRT542473	hsa-miR-661	PAR-CLIP	27292025
MIRT542473	hsa-miR-661	PAR-CLIP	27292025
MIRT542469	hsa-miR-6720-5p	PAR-CLIP	27292025
MIRT542469	hsa-miR-6720-5p	PAR-CLIP	27292025
MIRT542471	hsa-miR-6729-5p	PAR-CLIP	27292025
MIRT542471	hsa-miR-6729-5p	PAR-CLIP	27292025
MIRT542477	hsa-miR-766-3p	PAR-CLIP	27292025
MIRT542477	hsa-miR-766-3p	PAR-CLIP	27292025
MIRT542468	hsa-miR-7703	PAR-CLIP	27292025
MIRT542468	hsa-miR-7703	PAR-CLIP	27292025
MIRT542479	hsa-miR-939-3p	PAR-CLIP	27292025
MIRT542479	hsa-miR-939-3p	PAR-CLIP	27292025
MIRT696694	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT696692	hsa-miR-6732-3p	HITS-CLIP	23313552
MIRT696693	hsa-miR-5583-3p	HITS-CLIP	23313552
MIRT696691	hsa-miR-34a-3p	HITS-CLIP	23313552
MIRT696690	hsa-miR-10a-5p	HITS-CLIP	23313552
MIRT696689	hsa-miR-10b-5p	HITS-CLIP	23313552
MIRT696688	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT542480	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT696687	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT696686	hsa-miR-4421	HITS-CLIP	23313552
MIRT696685	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT696684	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT696683	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT696682	hsa-miR-769-5p	HITS-CLIP	23313552
MIRT696681	hsa-miR-3926	HITS-CLIP	23313552
MIRT696680	hsa-miR-6895-3p	HITS-CLIP	23313552
MIRT696679	hsa-miR-593-3p	HITS-CLIP	23313552
MIRT696678	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT696677	hsa-miR-3672	HITS-CLIP	23313552
MIRT696676	hsa-miR-6864-3p	HITS-CLIP	23313552
MIRT696675	hsa-miR-548s	HITS-CLIP	23313552
MIRT696674	hsa-miR-6818-3p	HITS-CLIP	23313552
MIRT542483	hsa-miR-4432	PAR-CLIP	21572407
MIRT542482	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT542481	hsa-miR-451b	PAR-CLIP	21572407
MIRT542480	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT542478	hsa-miR-4267	PAR-CLIP	21572407
MIRT542479	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT542477	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT542476	hsa-miR-4793-3p	PAR-CLIP	21572407
MIRT542475	hsa-miR-4486	PAR-CLIP	21572407
MIRT542474	hsa-miR-4696	PAR-CLIP	21572407
MIRT542473	hsa-miR-661	PAR-CLIP	21572407
MIRT542472	hsa-miR-4649-5p	PAR-CLIP	21572407
MIRT542471	hsa-miR-6729-5p	PAR-CLIP	21572407
MIRT542470	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT542469	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT542468	hsa-miR-7703	PAR-CLIP	21572407

Transcription factors

Transcription factor	Regulation	Reference
ATF2	Activation	9760243
HDAC1	Unknown	20516075
HDAC3	Unknown	20516075
HNF4A	Unknown	1639815;20516075
JUN	Activation	9760243
NR0B2	Unknown	20516075
NR2F1	Unknown	1639815
NR2F6	Unknown	1639815
PPARA	Repression	10494028
PPARA	Unknown	11007963
PPARGC1A	Activation	16891307
SMAD3	Activation	10995777
SMAD4	Activation	10995777
SP1	Unknown	7640286

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005543	Function	Phospholipid binding	IBA
GO:0005543	Function	Phospholipid binding	IDA	4066713, 11060345
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	IDA	11060345
GO:0005769	Component	Early endosome	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	IMP	17142127
GO:0006869	Process	Lipid transport	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	16443932
GO:0008289	Function	Lipid binding	IEA
GO:0010897	Process	Negative regulation of triglyceride catabolic process	IBA
GO:0010897	Process	Negative regulation of triglyceride catabolic process	IDA	3973011, 18635818
GO:0010903	Process	Negative regulation of very-low-density lipoprotein particle remodeling	IDA	3973011, 18635818
GO:0010916	Process	Negative regulation of very-low-density lipoprotein particle clearance	IBA
GO:0010916	Process	Negative regulation of very-low-density lipoprotein particle clearance	IDA	1917954
GO:0010987	Process	Negative regulation of high-density lipoprotein particle clearance	IBA
GO:0010987	Process	Negative regulation of high-density lipoprotein particle clearance	IMP	15778093
GO:0010989	Process	Negative regulation of low-density lipoprotein particle clearance	IBA
GO:0010989	Process	Negative regulation of low-density lipoprotein particle clearance	IMP	15778093
GO:0015485	Function	Cholesterol binding	IC	11162594
GO:0016042	Process	Lipid catabolic process	IEA
GO:0019433	Process	Triglyceride catabolic process	IBA
GO:0019433	Process	Triglyceride catabolic process	IDA	11060345
GO:0032489	Process	Regulation of Cdc42 protein signal transduction	IDA	16443932
GO:0033344	Process	Cholesterol efflux	IDA	11162594, 16443932
GO:0033700	Process	Phospholipid efflux	IDA	11162594
GO:0034361	Component	Very-low-density lipoprotein particle	IBA
GO:0034361	Component	Very-low-density lipoprotein particle	IDA	3973011, 16935699, 17154273
GO:0034361	Component	Very-low-density lipoprotein particle	IEA
GO:0034363	Component	Intermediate-density lipoprotein particle	IBA
GO:0034363	Component	Intermediate-density lipoprotein particle	IDA	17336988
GO:0034366	Component	Spherical high-density lipoprotein particle	IBA
GO:0034366	Component	Spherical high-density lipoprotein particle	IDA	17438339
GO:0034375	Process	High-density lipoprotein particle remodeling	IMP	17438339
GO:0034379	Process	Very-low-density lipoprotein particle assembly	TAS	18399797
GO:0034382	Process	Chylomicron remnant clearance	IDA	4020294
GO:0042157	Process	Lipoprotein metabolic process	IEA
GO:0042627	Component	Chylomicron	IBA
GO:0042627	Component	Chylomicron	IDA	8245722
GO:0042627	Component	Chylomicron	IEA
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IMP	18767813
GO:0043691	Process	Reverse cholesterol transport	IC	17438339
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	IDA	11060345, 18635818
GO:0045833	Process	Negative regulation of lipid metabolic process	IDA	182536
GO:0048261	Process	Negative regulation of receptor-mediated endocytosis	IDA	1917954
GO:0050995	Process	Negative regulation of lipid catabolic process	IDA	15576844
GO:0055102	Function	Lipase inhibitor activity	IBA
GO:0055102	Function	Lipase inhibitor activity	IDA	182536, 3973011, 11060345, 15576844, 18635818
GO:0060621	Process	Negative regulation of cholesterol import	IMP	15778093
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070328	Process	Triglyceride homeostasis	IBA
GO:0070328	Process	Triglyceride homeostasis	IMP	18767813
GO:0070653	Function	High-density lipoprotein particle receptor binding	IBA
GO:0070653	Function	High-density lipoprotein particle receptor binding	IPI	9254056

Other IDs

• MIM: 107720
• HGNC: 610
• e!Ensembl: ENSG00000110245

Protein

• UniProt ID: P02656
• Protein name: Apolipoprotein C-III (Apo-CIII) (ApoC-III) (Apolipoprotein C3)
• Protein function: Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma (PubMed:18201179, PubMed:22510806). Plays a multifaceted role in triglyceride homeostasis (PubMed:18201179, PubMed:22510806). Intra
• PDB: 2JQ3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05778	Apo-CIII	22 → 90	Apolipoprotein CIII (Apo-CIII)	Family

• Tissue specificity: TISSUE SPECIFICITY: Liver. {ECO:0000269|PubMed:6328445}.
• Sequence:

  MQPRVLLVVALLALLASARASEAEDASLLSFMQGYMKHATKTAKDALSSVQESQVAQQAR
  GWVTDGFSSLKDYWSTVKDKFSEFWDLDPEVRPTSAVAA

• Sequence length: 99

Pathways

KEGG:

PPAR signaling pathway
Cholesterol metabolism

Reactome:

Chylomicron assembly
Chylomicron remodeling
HDL remodeling
Retinoid metabolism and transport

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Apolipoprotein c-III deficiency	Pathogenic	rs121918382	RCV000019492	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Apolipoprotein C-III, nonglycosylated	Pathogenic	rs121918381	RCV000019491	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
APOC3-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholesterol-ester transfer protein deficiency	Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ 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	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERALPHALIPOPROTEINEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA, FAMILIAL COMBINED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE II	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE III	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial infarction, susceptibility to	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ 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
Acne	Acne	BEFREE	24234421		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	24234421		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	23349247		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	31570698		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26491253	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35387811	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	26790392		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	GENOMICS_ENGLAND_DG	26790392		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	26790392	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis Familial	Amyloidosis	Pubtator	26790392	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	11553004	Associate	★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	32299226	Associate	★☆☆☆☆ Found in Text Mining only
Apolipoprotein C-III Deficiency	Hyperalphalipoproteinemia	UNIPROT_DG	2022742		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Apolipoprotein C-III Deficiency	Hyperalphalipoproteinemia	BEFREE	26790392		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Apolipoprotein C-III Deficiency	Hyperalphalipoproteinemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Apolipoprotein C-III Deficiency	Hyperalphalipoproteinemia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arteriosclerosis	Arteriosclerosis	BEFREE	22236405, 25979856, 26117401, 27770802, 28441154, 29162127, 29351856, 29540426, 29555504, 2989400, 30949716, 31004933, 3118360, 31295146, 31449060, 31818211, 3345637, 3911967, 6314145, 7834891, 8994037		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	8593945		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	19074352		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	20002542, 22236405, 25363704, 29162127, 2989400, 3118360, 31852220, 36768547, 37114828, 9691099	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	22236405, 25979856, 26117401, 27770802, 28441154, 29162127, 29351856, 29540426, 29555504, 2989400, 30949716, 31004933, 3118360, 31295146, 31449060, 31818211, 3345637, 3911967, 6314145, 7834891, 8994037		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	33580780, 40282372	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	38127052	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32197906	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	22532455	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10360669, 9071570		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40715365	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	1312668, 31136099, 36091935, 40282372	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22726459	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10337999		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	11116069, 15375785, 15576429, 16682041, 22236405, 22301884, 23542898, 23701270, 24725463, 24941082, 26117401, 26435212, 27619170, 27624799, 27770802, 28739253, 29547399, 29555504, 30255797, 30580564, 30745272, 31111320, 31247940, 31295146, 31449060, 31738617, 31818211		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	12118856, 16602826, 20002542, 22236405, 24941082, 26117401, 26255783, 26824674, 27624799, 28948955, 29212317, 31345219, 32174066, 32710763, 36040803, 36768547, 37114828, 37834292, 40282372	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	15375785		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	CTD_human_DG	16544732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	27619170	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	20454521, 21378598	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	CTD_human_DG	30097691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	25994187	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	28635360	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	11553004, 26970521, 31795904		★☆☆☆☆ Found in Text Mining only
Cholesterol-ester transfer protein deficiency	Cholesterol-Ester Transfer Protein Deficiency	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholesteryl Ester Transfer Protein Deficiency	Hyperalphalipoproteinemia	BEFREE	2022742, 23701270		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholesteryl Ester Transfer Protein Deficiency	Hyperalphalipoproteinemia	ORPHANET_DG	2022742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Pain	Chronic pain	Pubtator	31649376	Inhibit	★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	19424489	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	19424489	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	35387811	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	38287401	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31502404		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30542696	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	31186008		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	14578315, 16037491, 17170056, 28444691		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	29869806	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	11483625, 11500189, 12235176, 15657615, 16682041, 17367769, 18289550, 19701693, 22054125, 23377670, 24430880, 25380998, 26387083, 26435212, 26782469, 27114411, 27624799, 28406212, 29162611, 29540426, 29652662, 30249512, 30511426, 31329855, 31449060, 31836003, 9211063		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	CTD_human_DG	24097064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	11483625, 11500189, 12235176, 14563827, 14709372, 15124908, 15657615, 16682041, 16769999, 17367769, 18289550, 18801202, 19701693, 22054125, 23377670, 24430880, 24941081, 25380998, 26387083, 26435212, 26782469, 26965314, 27114411, 27624799, 28406212, 28473441, 29162611, 29540426, 29652662, 30249512, 30511426, 30602199, 31329855, 31449060, 31836003, 9211063		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	12235176, 14563827, 17342071, 18801202		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	12235176, 12964943, 14563827, 16769999, 19074352, 20002542, 24242684, 25380998, 26069232, 28473441, 32710763, 34548093, 8728325	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	20307520	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	CTD_human_DG	24097064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	11483625, 12576526, 24941081, 25185943, 26387083, 27114411, 27624799, 32437778, 36691918	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	26069232	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	11483625, 11500189, 12235176, 12676816, 15657615, 16682041, 17367769, 17654446, 18289550, 19701693, 21185820, 22054125, 22301884, 23377670, 24430880, 24941081, 25185943, 25380998, 2567428, 26387083, 26435212, 26477595, 26782469, 27114411, 27624799, 27739219, 28365588, 28406212, 28825717, 29162611, 29467335, 29540426, 29652662, 30249512, 30511426, 31329855, 31449060, 31836003, 9211063		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coronary heart disease	Coronary Heart Disease	LHGDN	17654446, 17825930		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coronary Restenosis	Coronary restenosis	Pubtator	12704570	Associate	★☆☆☆☆ Found in Text Mining only
Cryoglobulinemia	Cryoglobulinemia	Pubtator	35677050	Stimulate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29081697		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	22118861		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	26491253	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15585206, 17197160, 19424489, 21185820, 21777557, 26247234, 27875339, 28520887, 30723097, 30949716		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	32665614	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15585206, 17197160, 19424489, 21185820, 21777557, 26247234, 27875339, 28520887, 30723097, 30949716		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	17197160, 19424489	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	21373834	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	17197160, 21373834, 26945091, 37834292	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15375785, 15642486, 16505251, 21373834, 27875339, 31295146, 31449060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16343038, 16752169, 17197160, 21185820, 21373834, 23542898, 26247234, 27875339, 28031419, 28391889, 29529691, 30972934, 31753785		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	15983323, 16813599		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	15983323, 16813599		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	10781646, 15598690, 15809899, 16343038, 16417409, 17700364, 18240956, 21777557, 21939545, 22236405, 24704626, 25979856, 27713142, 28109622, 28502507, 28610615, 29152661, 30753100, 31789670, 31834860, 9211063		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	LHGDN	15598690, 16343038, 18663085		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	16417409, 18566295, 21939545, 22236405, 22566642, 28610615, 31856839, 36759651	Associate	★☆☆☆☆ Found in Text Mining only
Elejalde Disease	Hereditary elliptocytosis	Pubtator	38143756	Stimulate	★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	36371157	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	17108118		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	38395389	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	21663607, 21829161, 22105854, 23808989, 27547913		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	22105854	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	23512881, 26845607	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	21663607		★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	BEFREE	22784820		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	29847670	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	29847670		★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	27094595	Inhibit	★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	27094595	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	15576429		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	10412780, 26790392	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	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	10494028		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	12059987		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	11483625, 14709372, 22848358, 29081697, 29356705, 29653812		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	11483625, 22848358	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	CTD_human_DG	16030523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	10905494, 18541587, 31295146		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	18541587		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	18541587	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	27226540		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	LHGDN	12118856		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	15863838, 19034316, 22023023, 24234421, 25380998, 27619170, 28441154, 2883893, 30753100		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemia Familial Combined	Hyperlipidemia	Pubtator	10064730, 10357835, 11181747, 8100834, 8820109, 9062353, 9215535	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	10357835, 11181747, 11583715, 12468272, 7889654, 8994037, 9215535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemias	Hyperlipidemia	Pubtator	10357835, 12118856, 15809899, 19034316, 25380998, 26117401, 27619170, 2883893, 9254071	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	25470695, 30183397, 30318066, 9792993		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	Pubtator	25470695, 34678899, 37100699	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	32489792, 9215535	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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	Pubtator	19034316	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type III	Hyperlipoproteinemia	BEFREE	2883893		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IV	Hyperlipoproteinemia	BEFREE	1430212		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type V	Hyperlipoproteinemia	Pubtator	10064743	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	CTD_human_DG	2022742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	16602826, 25320541, 30380775	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	11282888	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	15202783, 16430904, 25320541, 29081697, 30380775, 31795904		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	11483625, 12021280, 12118856, 12235176, 12588953, 15809899, 16417409, 16495512, 16861622, 16864937, 17919884, 18096054, 18408013, 18556566, 20335584, 20368524, 21274868, 22054125, 25320541, 2989400, 2995445, 30021607, 30380775, 30422238, 32494907, 36855114, 36921196, 37114828, 8099442, 9323592, 9691099	Associate	★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	35568684	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	38395389	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	15059615		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemia, Familial	Hypoalphalipoproteinemia	BEFREE	3081805		★☆☆☆☆ Found in Text Mining only
Hypotriglyceridemia	Hypotriglyceridemia	BEFREE	20097930		★☆☆☆☆ Found in Text Mining only
Hypotriglyceridemia	Hypotriglyceridemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	31160422		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	19424489, 30689582		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	38287401	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	12118856, 20335584, 21274868, 21663607, 25320541, 32323743, 37834292	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	18556566	Stimulate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	1312668	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	25047818		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26117401, 28635360, 28865324, 31795904		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	15642486, 15983323, 31819254		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	32174066	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	26790392		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	1614054	Associate	★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	18240956, 24972136		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	BEFREE	15809899, 18240956, 18753860, 22775001		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	15809899, 18240956, 18753860, 22775001		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	22775001	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12692252		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	1312668, 27547913, 29132372, 31211449		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	40065360	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	1312668, 29132372		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	19180532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	30422238		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10360669, 9071570		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10337999		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	19180532		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10360669, 26996551, 30249512		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	16223942		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	20368524	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24972136		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	12697303, 14563827, 16602826, 17416293, 18096054, 18566295, 26824674	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome	Metabolic syndrome	Pubtator	14563827	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	14563827, 15598690, 15869758, 16343038, 17416293, 18096054, 18188530, 18789138, 19932084, 21473680, 21749608, 23542898, 25301527, 25653052, 26824674, 28919193, 30584439, 30723097		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	LHGDN	18509206		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular Angina	BEFREE	11427182		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30689582		★☆☆☆☆ Found in Text Mining only
Mucositis	Mucositis	Pubtator	21378598	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10428310, 15039125, 15488874, 15585206, 16192625, 18541587, 21499891, 21767760, 25487149, 2862468		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	16192625, 18541587	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	24656450, 24941082, 26859812		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	24941082	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropathy	Neuropathy	BEFREE	22426495		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial hypobetalipoproteinemia	Hypobetalipoproteinemia	Orphanet			★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Non-alcoholic fatty liver disease	Non-Alcoholic Fatty Liver Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	20335584, 20473151, 21199528, 21663607, 21777557, 22141340, 23512881, 24707151, 25320541, 26965314, 27059980, 28115523, 28163820, 29555504, 30196282, 30950217, 31216264		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nuchal bleb, familial	Nuchal Bleb	BEFREE	8100834, 9062353		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	14563827, 28974732, 31856839, 34043341, 36855114	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17016614, 18537870, 18541587, 21185820, 22004016, 25320541, 27059980, 31216264		★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	12588953, 18541587	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	8099442	Associate	★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	22784820		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28514751	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29842811		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22118861		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31278444, 32323743, 37902017	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	26485402	Associate	★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	20825553		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29081697		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	15642486		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	31207142	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	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 12	Spinocerebellar Ataxia	BEFREE	22426495		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36361568, 37686462	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	21663607, 21777557, 21829161, 22105854, 23808989, 27059980, 27547913, 28115523		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	26485402	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21267442, 36430456, 37350375	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37100457	Inhibit	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	11553004	Associate	★☆☆☆☆ Found in Text Mining only
Thanatophoric dysplasia, type 2	Thanatophoric Dysplasia	BEFREE	27794214		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	32299226	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	19785722	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23631828	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	24941082, 26435212		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	24941082, 36768547	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	27619170	Stimulate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	26790392	Associate	★☆☆☆☆ Found in Text Mining only