ANGPTL3 (angiopoietin like 3)

Gene

• Entrez ID: 27329
• Gene name: Angiopoietin like 3
• Gene symbol: ANGPTL3
• Synonyms (NCBI Gene): ANG-5, ANGPT5, ANL3, FHBL2
• Chromosome: 1
• Chromosome location: 1p31.3
• Summary: This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fib

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT689043	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT689042	hsa-miR-6736-3p	HITS-CLIP	23313552
MIRT689041	hsa-miR-4485-5p	HITS-CLIP	23313552
MIRT689040	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT689039	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT689038	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT689037	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT689036	hsa-miR-1281	HITS-CLIP	23313552
MIRT689035	hsa-miR-4772-3p	HITS-CLIP	23313552
MIRT689034	hsa-miR-4695-3p	HITS-CLIP	23313552
MIRT689033	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT689032	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT689031	hsa-miR-23a-5p	HITS-CLIP	23313552
MIRT689030	hsa-miR-23b-5p	HITS-CLIP	23313552
MIRT689029	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT689028	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT689027	hsa-miR-498	HITS-CLIP	23313552
MIRT560429	hsa-miR-4302	PAR-CLIP	20371350
MIRT560427	hsa-miR-4289	PAR-CLIP	20371350
MIRT560428	hsa-miR-145-3p	PAR-CLIP	20371350
MIRT560426	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560425	hsa-miR-6077	PAR-CLIP	20371350
MIRT560424	hsa-miR-6717-5p	PAR-CLIP	20371350
MIRT560423	hsa-miR-8053	PAR-CLIP	20371350
MIRT560422	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT560421	hsa-miR-644a	PAR-CLIP	20371350
MIRT560420	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT560419	hsa-miR-4752	PAR-CLIP	20371350
MIRT560417	hsa-miR-670-3p	PAR-CLIP	20371350
MIRT544207	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT544206	hsa-miR-548ab	PAR-CLIP	21572407
MIRT544205	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT544204	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT544203	hsa-miR-548ak	PAR-CLIP	21572407
MIRT544202	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT544201	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT544200	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT544199	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT544198	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT544197	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT544196	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT544195	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT544194	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT544193	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT544192	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT544191	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT544189	hsa-miR-548i	PAR-CLIP	21572407
MIRT544190	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT544188	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT544187	hsa-miR-548w	PAR-CLIP	21572407
MIRT544186	hsa-miR-548y	PAR-CLIP	21572407
MIRT544185	hsa-miR-559	PAR-CLIP	21572407
MIRT544184	hsa-miR-548av-5p	PAR-CLIP	21572407
MIRT544183	hsa-miR-548k	PAR-CLIP	21572407
MIRT544182	hsa-miR-8054	PAR-CLIP	21572407
MIRT544181	hsa-miR-548l	PAR-CLIP	21572407
MIRT544180	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT544179	hsa-miR-5692b	PAR-CLIP	21572407
MIRT544178	hsa-miR-5692c	PAR-CLIP	21572407
MIRT544177	hsa-miR-633	PAR-CLIP	21572407
MIRT544176	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT544175	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT539281	hsa-miR-4802-3p	PAR-CLIP	22012620
MIRT539280	hsa-miR-7845-5p	PAR-CLIP	22012620
MIRT539279	hsa-miR-3121-5p	PAR-CLIP	22012620
MIRT539278	hsa-miR-1206	PAR-CLIP	22012620
MIRT539277	hsa-miR-6516-3p	PAR-CLIP	22012620
MIRT539276	hsa-miR-7156-3p	PAR-CLIP	22012620
MIRT539275	hsa-miR-135b-3p	PAR-CLIP	22012620
MIRT539274	hsa-miR-3674	PAR-CLIP	22012620
MIRT689043	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT689042	hsa-miR-6736-3p	HITS-CLIP	23313552
MIRT689041	hsa-miR-4485-5p	HITS-CLIP	23313552
MIRT689040	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT689039	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT689038	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT689037	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT689036	hsa-miR-1281	HITS-CLIP	23313552
MIRT689035	hsa-miR-4772-3p	HITS-CLIP	23313552
MIRT689034	hsa-miR-4695-3p	HITS-CLIP	23313552
MIRT689033	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT689032	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT689031	hsa-miR-23a-5p	HITS-CLIP	23313552
MIRT689030	hsa-miR-23b-5p	HITS-CLIP	23313552
MIRT689029	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT689028	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT689027	hsa-miR-498	HITS-CLIP	23313552
MIRT560429	hsa-miR-4302	PAR-CLIP	20371350
MIRT560427	hsa-miR-4289	PAR-CLIP	20371350
MIRT560428	hsa-miR-145-3p	PAR-CLIP	20371350
MIRT560426	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560425	hsa-miR-6077	PAR-CLIP	20371350
MIRT560424	hsa-miR-6717-5p	PAR-CLIP	20371350
MIRT560423	hsa-miR-8053	PAR-CLIP	20371350
MIRT560422	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT560421	hsa-miR-644a	PAR-CLIP	20371350
MIRT560420	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT560419	hsa-miR-4752	PAR-CLIP	20371350
MIRT560417	hsa-miR-670-3p	PAR-CLIP	20371350
MIRT544207	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT544206	hsa-miR-548ab	PAR-CLIP	21572407
MIRT544205	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT544204	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT544203	hsa-miR-548ak	PAR-CLIP	21572407
MIRT544202	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT544201	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT544200	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT544199	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT544198	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT544197	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT544196	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT544195	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT544194	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT544193	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT544192	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT544191	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT544189	hsa-miR-548i	PAR-CLIP	21572407
MIRT544190	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT544188	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT544187	hsa-miR-548w	PAR-CLIP	21572407
MIRT544186	hsa-miR-548y	PAR-CLIP	21572407
MIRT544185	hsa-miR-559	PAR-CLIP	21572407
MIRT544184	hsa-miR-548av-5p	PAR-CLIP	21572407
MIRT544183	hsa-miR-548k	PAR-CLIP	21572407
MIRT544182	hsa-miR-8054	PAR-CLIP	21572407
MIRT544181	hsa-miR-548l	PAR-CLIP	21572407
MIRT544180	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT544179	hsa-miR-5692b	PAR-CLIP	21572407
MIRT544178	hsa-miR-5692c	PAR-CLIP	21572407
MIRT544177	hsa-miR-633	PAR-CLIP	21572407
MIRT544176	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT544175	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT539281	hsa-miR-4802-3p	PAR-CLIP	22012620
MIRT539280	hsa-miR-7845-5p	PAR-CLIP	22012620
MIRT539279	hsa-miR-3121-5p	PAR-CLIP	22012620
MIRT539278	hsa-miR-1206	PAR-CLIP	22012620
MIRT539277	hsa-miR-6516-3p	PAR-CLIP	22012620
MIRT539276	hsa-miR-7156-3p	PAR-CLIP	22012620
MIRT539275	hsa-miR-135b-3p	PAR-CLIP	22012620
MIRT539274	hsa-miR-3674	PAR-CLIP	22012620
MIRT781529	hsa-miR-1244	CLIP-seq
MIRT781530	hsa-miR-134	CLIP-seq
MIRT781531	hsa-miR-3118	CLIP-seq
MIRT781532	hsa-miR-3145-5p	CLIP-seq
MIRT781533	hsa-miR-3164	CLIP-seq
MIRT781534	hsa-miR-3658	CLIP-seq
MIRT781535	hsa-miR-4501	CLIP-seq
MIRT781536	hsa-miR-4662a-3p	CLIP-seq
MIRT781537	hsa-miR-4699-3p	CLIP-seq
MIRT781538	hsa-miR-508-5p	CLIP-seq
MIRT781539	hsa-miR-548c-3p	CLIP-seq
MIRT781540	hsa-miR-577	CLIP-seq
MIRT781541	hsa-miR-944	CLIP-seq
MIRT781529	hsa-miR-1244	CLIP-seq
MIRT781530	hsa-miR-134	CLIP-seq
MIRT781531	hsa-miR-3118	CLIP-seq
MIRT781533	hsa-miR-3164	CLIP-seq
MIRT781535	hsa-miR-4501	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0004857	Function	Enzyme inhibitor activity	IEA
GO:0004857	Function	Enzyme inhibitor activity	ISS
GO:0004859	Function	Phospholipase inhibitor activity	IBA
GO:0004859	Function	Phospholipase inhibitor activity	IDA	17110602
GO:0004859	Function	Phospholipase inhibitor activity	IEA
GO:0005178	Function	Integrin binding	IPI	11877390
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	17110602
GO:0005769	Component	Early endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006071	Process	Glycerol metabolic process	IDA	12565906
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IDA	12565906
GO:0006644	Process	Phospholipid metabolic process	IDA	17110602
GO:0007155	Process	Cell adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IPI	11877390
GO:0007165	Process	Signal transduction	IDA	11877390
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	11877390
GO:0008083	Function	Growth factor activity	IDA	11877390
GO:0008201	Function	Heparin binding	IEA
GO:0008203	Process	Cholesterol metabolic process	IDA	17110602
GO:0009395	Process	Phospholipid catabolic process	IBA
GO:0009395	Process	Phospholipid catabolic process	IDA	17110602
GO:0009725	Process	Response to hormone	IEA
GO:0009986	Component	Cell surface	IDA	12565906
GO:0009986	Component	Cell surface	IEA
GO:0010903	Process	Negative regulation of very-low-density lipoprotein particle remodeling	IDA	19542565
GO:0010903	Process	Negative regulation of very-low-density lipoprotein particle remodeling	IEA
GO:0019915	Process	Lipid storage	IDA	12565906
GO:0030027	Component	Lamellipodium	IEA
GO:0030335	Process	Positive regulation of cell migration	IDA	11877390
GO:0031012	Component	Extracellular matrix	IBA
GO:0035473	Function	Lipase binding	IPI	19542565
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IDA	17110602
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IDA	11877390
GO:0048844	Process	Artery morphogenesis	IEA
GO:0048844	Process	Artery morphogenesis	ISS
GO:0050996	Process	Positive regulation of lipid catabolic process	IDA	12565906
GO:0055088	Process	Lipid homeostasis	IDA	17110602
GO:0055090	Process	Acylglycerol homeostasis	IDA	17110602
GO:0055090	Process	Acylglycerol homeostasis	IEA
GO:0055091	Process	Phospholipid homeostasis	IBA
GO:0055091	Process	Phospholipid homeostasis	IDA	17110602
GO:0055091	Process	Phospholipid homeostasis	IEA
GO:0055102	Function	Lipase inhibitor activity	IDA	17110602, 19542565
GO:0070328	Process	Triglyceride homeostasis	IBA
GO:0070328	Process	Triglyceride homeostasis	IEA
GO:0070328	Process	Triglyceride homeostasis	IGI	23150577
GO:0070328	Process	Triglyceride homeostasis	ISS
GO:0090318	Process	Regulation of chylomicron remodeling	IDA	19542565
GO:0090318	Process	Regulation of chylomicron remodeling	IEA

Other IDs

• MIM: 604774
• HGNC: 491
• e!Ensembl: ENSG00000132855

Protein

• UniProt ID: Q9Y5C1
• Protein name: Angiopoietin-related protein 3 (Angiopoietin-5) (ANG-5) (Angiopoietin-like protein 3) [Cleaved into: ANGPTL3(17-221); ANGPTL3(17-224)]
• Protein function: Acts in part as a hepatokine that is involved in regulation of lipid and glucose metabolism (PubMed:11788823, PubMed:12909640, PubMed:23661675, PubMed:25495645). Proposed to play a role in the trafficking of energy substrates to either storage o
• PDB: 6EUA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00147	Fibrinogen_C	242 → 454	Fibrinogen beta and gamma chains, C-terminal globular domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed principally in liver. Weakly expressed in kidney. Binds to adipocytes. Increased expression and colocalization with activated ITGB3 in glomeruli of patients with nephrotic syndrome showing effaced podocyte foot processes (at
• Sequence:

  MFTIKLLLFIVPLVISSRIDQDNSSFDSLSPEPKSRFAMLDDVKILANGLLQLGHGLKDF
  VHKTKGQINDIFQKLNIFDQSFYDLSLQTSEIKEEEKELRRTTYKLQVKNEEVKNMSLEL
  NSKLESLLEEKILLQQKVKYLEEQLTNLIQNQPETPEHPEVTSLKTFVEKQDNSIKDLLQ
  TVEDQYKQLNQQHSQIKEIENQLRRTSIQEPTEISLSSKPRAPRTTPFLQLNEIRNVKHD
  GIPAECTTIYNRGEHTSGMYAIRPSNSQVFHVYCDVISGSPWTLIQHRIDGSQNFNETWE
  NYKYGFGRLDGEFWLGLEKIYSIVKQSNYVLRIELEDWKDNKHYIEYSFYLGNHETNYTL
  HLVAITGNVPNAIPENKDLVFSTWDHKAKGHFNCPEGYSGGWWWHDECGENNLNGKYNKP
  RAKSKPERRRGLSWKSQNGRLYSIKSTKMLIHPTDSESFE

• Sequence length: 460

Pathways

KEGG:

Cholesterol metabolism

Reactome:

Assembly of active LPL and LIPC lipase complexes
NR1H2 & NR1H3 regulate gene expression linked to lipogenesis

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
Familial hypobetalipoproteinemia 2	Pathogenic	rs267606655, rs200785483, rs398122985, rs398122986, rs398122987, rs398122989	RCV000005684 RCV000005685 RCV000077766 RCV000077767 RCV000077768 RCV000077770	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANGPTL3-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abetalipoproteinemia	Abetalipoproteinemia	Pubtator	27179706	Associate	★☆☆☆☆ Found in Text Mining only
Acanthocytosis With Hypobetalipoproteinemia	Hypobetalipoproteinemia	BEFREE	28733173		★☆☆☆☆ Found in Text Mining only
Acne	Acne	BEFREE	28025036		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	28025036		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	29695708		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	29695708	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15530921, 19851103, 28538111, 28984319, 29334984, 29498010, 30086775, 30615486, 30893111, 31223079		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15530921, 19851103, 28538111, 28538136, 28984319, 29334984, 29498010, 29737015, 30086775, 30615486, 30893111, 31223079		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	29618844, 33580780, 33887960, 37626170	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	34865644, 38243829	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	35755170	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31642813	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	35595912	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32443377	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34484467, 37919459	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37375208	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28235714		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24058201, 28538136, 29334984, 29498010, 29538435, 30306859, 30504621, 30683883, 30745272		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	24058201	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30683883	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	29454388, 38243829	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31749619		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38127052	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30033448, 31270029		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	26754661, 26800306, 28385496, 28538136, 28984319, 29440908, 29454388, 29713054, 30816800, 30893111		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26754661, 26800306, 28385496, 28538136, 28984319, 29440908, 29454388, 29713054, 30326043, 30816800, 30893111		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26800306, 29454388, 29713054, 36416040, 38243829	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	32440963	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	21804106	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	21804106, 26754661, 26800306, 27739219, 28385496, 28538136, 28984319, 29440908, 29454388, 29713054, 30326043, 30816800, 30893111		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15094378, 24058201, 30615486		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32494035	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15094378, 24058201, 27804036, 30615486, 30683883		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	24058201, 35932065	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30683883	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27733177	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27733177, 29621508, 29695708, 30326043, 30944669		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29621508, 30128492		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	22896670, 28984319, 29104012, 29334984, 30096295, 30893111, 30944669		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	22896670	Associate	★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	28502512		★☆☆☆☆ Found in Text Mining only
Familial hypercholesterolemia - homozygous	Hypercholesterolemia	BEFREE	31578082		★☆☆☆☆ Found in Text Mining only
Familial hypobetalipoproteinemia	Hypobetalipoproteinemia	BEFREE	22155345, 25733326, 27804036, 28733173		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	24058201, 28733173		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26639238		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26639238		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	31126248		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	34360721	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	34067751	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	27804036, 29440908, 30827231		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	23661675		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	15094378, 19318355, 31103046		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia Familial Combined	Hyperlipidemia	Pubtator	33772079	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	27040449	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	31840878		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	33242792, 33691480, 38385290	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	27804036, 29440908, 30827231		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IV	Hyperlipoproteinemia	Pubtator	33588820	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type V	Hyperlipoproteinemia	Pubtator	19656773	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	Pubtator	19656773	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	29454388, 29989339	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29490644, 29989339		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	33588820	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	22062970		★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemia Familial 2	Hypoalphalipoproteinemia	Pubtator	20942659, 22659251, 24058201, 27040449, 28633452, 33772079	Associate	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemia, Familial, 2	Hypobetalipoproteinemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypobetalipoproteinemia, Familial, 2	Hypobetalipoproteinemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	21502677, 27179706	Associate	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	22062970, 22155345, 22247256, 25733326, 26754661, 28733173		★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	23254474		★☆☆☆☆ Found in Text Mining only
Hypoproteinemia	Hypoproteinemia	BEFREE	31126248		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	31380419		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	38385290	Associate	★☆☆☆☆ Found in Text Mining only
Hypotriglyceridemia	Hypotriglyceridemia	BEFREE	16081640		★☆☆☆☆ Found in Text Mining only
Hypotriglyceridemia	Hypotriglyceridemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	34067751	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	21691831, 29454388		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31126248, 31256934		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	39300580	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	25644496		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	28502512		★☆☆☆☆ Found in Text Mining only
Lipodystrophy Familial Partial	Lipodystrophy	Pubtator	34865644	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28371666		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	25644496		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28235714		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29695708		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24916532		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	29695708, 38243829	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	15336575, 24626437		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36580015	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28385496, 30086775		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25644496		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial hypobetalipoproteinemia	Hypobetalipoproteinemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	15094378, 27733177, 29695708, 31413305		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25244256, 27733177, 35052431	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32494035	Inhibit	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28235714		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26260910	Associate	★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	29621508		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30361641	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30033448, 31270029		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29621508		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	37375208	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	32440963	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36580015	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	24058201, 28733173		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32410376, 38127052	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37290894	Associate	★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	31380419		★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	BEFREE	28330813		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35038961	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	32582222	Inhibit	★☆☆☆☆ Found in Text Mining only