APOA5 (apolipoprotein A5)

Gene

• Entrez ID: 116519
• Gene name: Apolipoprotein A5
• Gene symbol: APOA5
• Synonyms (NCBI Gene): APOAV, RAP3
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs662799	G>A,C	Drug-response	Upstream transcript variant
rs3135506	G>A,C	Risk-factor	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438007	hsa-miR-485-5p	Luciferase reporter assay	24387992
MIRT438007	hsa-miR-485-5p	Luciferase reporter assay	24387992
MIRT711972	hsa-miR-6865-3p	HITS-CLIP	19536157
MIRT711971	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT711970	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT711967	hsa-miR-4780	HITS-CLIP	19536157
MIRT711966	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT711965	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT711963	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT711972	hsa-miR-6865-3p	HITS-CLIP	19536157
MIRT711971	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT711970	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT711969	hsa-miR-1470	HITS-CLIP	19536157
MIRT711968	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT711967	hsa-miR-4780	HITS-CLIP	19536157
MIRT711966	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT711965	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT711964	hsa-miR-4469	HITS-CLIP	19536157
MIRT711963	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT711972	hsa-miR-6865-3p	HITS-CLIP	19536157
MIRT711971	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT711970	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT711969	hsa-miR-1470	HITS-CLIP	19536157
MIRT711968	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT711967	hsa-miR-4780	HITS-CLIP	19536157
MIRT711966	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT711965	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT711964	hsa-miR-4469	HITS-CLIP	19536157
MIRT711963	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT734831	hsa-miR-194-5p	qRT-PCR	31885789
MIRT711972	hsa-miR-6865-3p	HITS-CLIP	19536157
MIRT711971	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT711970	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT711967	hsa-miR-4780	HITS-CLIP	19536157
MIRT711966	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT711965	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT711963	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT711972	hsa-miR-6865-3p	HITS-CLIP	19536157
MIRT711971	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT711970	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT711969	hsa-miR-1470	HITS-CLIP	19536157
MIRT711968	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT711967	hsa-miR-4780	HITS-CLIP	19536157
MIRT711966	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT711965	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT711964	hsa-miR-4469	HITS-CLIP	19536157
MIRT711963	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT711972	hsa-miR-6865-3p	HITS-CLIP	19536157
MIRT711971	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT711970	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT711969	hsa-miR-1470	HITS-CLIP	19536157
MIRT711968	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT711967	hsa-miR-4780	HITS-CLIP	19536157
MIRT711966	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT711965	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT711964	hsa-miR-4469	HITS-CLIP	19536157
MIRT711963	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT789767	hsa-miR-1286	CLIP-seq
MIRT789768	hsa-miR-1287	CLIP-seq
MIRT789769	hsa-miR-214	CLIP-seq
MIRT789770	hsa-miR-329	CLIP-seq
MIRT789771	hsa-miR-3619-5p	CLIP-seq
MIRT789772	hsa-miR-362-3p	CLIP-seq
MIRT789773	hsa-miR-377	CLIP-seq
MIRT789774	hsa-miR-3944-5p	CLIP-seq
MIRT789775	hsa-miR-4530	CLIP-seq
MIRT789776	hsa-miR-4711-5p	CLIP-seq
MIRT789777	hsa-miR-4722-5p	CLIP-seq
MIRT789778	hsa-miR-4764-5p	CLIP-seq
MIRT789779	hsa-miR-4768-3p	CLIP-seq
MIRT789780	hsa-miR-761	CLIP-seq
MIRT789781	hsa-miR-579	CLIP-seq
MIRT789782	hsa-miR-645	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PPARA	Unknown	16448983
PPARGC1A	Activation	16891307
RORA	Unknown	16448983
SREBF1	Repression	15317819
SREBF1	Unknown	16448983
USF1	Activation	15684402;18572192
USF1	Unknown	20054229
USF2	Activation	18572192
USF2	Unknown	15684402

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	12810715
GO:0005576	Component	Extracellular region	IDA	11577099
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	18635818, 19121291
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0006641	Process	Triglyceride metabolic process	IDA	11588264
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	IMP	12417525, 14729863, 17142127
GO:0006869	Process	Lipid transport	IDA	15178420
GO:0006869	Process	Lipid transport	IEA
GO:0008201	Function	Heparin binding	IDA	15878877, 17326667
GO:0008203	Process	Cholesterol metabolic process	IBA
GO:0008289	Function	Lipid binding	IDA	12810715
GO:0008289	Function	Lipid binding	IEA
GO:0010898	Process	Positive regulation of triglyceride catabolic process	IDA	18635818
GO:0010902	Process	Positive regulation of very-low-density lipoprotein particle remodeling	IDA	16806135, 18635818
GO:0019433	Process	Triglyceride catabolic process	IMP	15178420
GO:0019899	Function	Enzyme binding	IDA	15178420
GO:0031210	Function	Phosphatidylcholine binding	IDA	16806135
GO:0033344	Process	Cholesterol efflux	IBA
GO:0033700	Process	Phospholipid efflux	IBA
GO:0034361	Component	Very-low-density lipoprotein particle	IBA
GO:0034361	Component	Very-low-density lipoprotein particle	IDA	15528295
GO:0034361	Component	Very-low-density lipoprotein particle	IEA
GO:0034362	Component	Low-density lipoprotein particle	IDA	15528295
GO:0034364	Component	High-density lipoprotein particle	IBA
GO:0034364	Component	High-density lipoprotein particle	IDA	15528295
GO:0034364	Component	High-density lipoprotein particle	IEA
GO:0034370	Process	Triglyceride-rich lipoprotein particle remodeling	IEA
GO:0034447	Process	Very-low-density lipoprotein particle clearance	IDA	15178420
GO:0035473	Function	Lipase binding	IPI	15178420, 16806135
GO:0042157	Process	Lipoprotein metabolic process	IEA
GO:0042246	Process	Tissue regeneration	IEP	11577099
GO:0042627	Component	Chylomicron	IBA
GO:0042627	Component	Chylomicron	IDA	15528295
GO:0042627	Component	Chylomicron	IEA
GO:0042632	Process	Cholesterol homeostasis	IDA	19121291
GO:0045723	Process	Positive regulation of fatty acid biosynthetic process	IDA	18635818
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	TAS	18635818
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IPI	17326667
GO:0050996	Process	Positive regulation of lipid catabolic process	IDA	16806135
GO:0055090	Process	Acylglycerol homeostasis	IBA
GO:0055090	Process	Acylglycerol homeostasis	IDA	11588264
GO:0055090	Process	Acylglycerol homeostasis	IEA
GO:0055090	Process	Acylglycerol homeostasis	IMP	15178420
GO:0060228	Function	Phosphatidylcholine-sterol O-acyltransferase activator activity	IBA
GO:0060229	Function	Lipase activator activity	IMP	15178420
GO:0060230	Function	Lipoprotein lipase activator activity	IDA	16806135, 18635818
GO:0070325	Function	Lipoprotein particle receptor binding	IPI	18635818
GO:0070328	Process	Triglyceride homeostasis	IDA	19121291
GO:0070328	Process	Triglyceride homeostasis	IMP	18635818
GO:0120020	Function	Cholesterol transfer activity	IBA
GO:1903561	Component	Extracellular vesicle	IBA

Other IDs

• MIM: 606368
• HGNC: 17288
• e!Ensembl: ENSG00000110243

Protein

• UniProt ID: Q6Q788
• Protein name: Apolipoprotein A-V (Apo-AV) (ApoA-V) (Apolipoprotein A5) (Regeneration-associated protein 3)
• Protein function: Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Important determinant of plasma triglyceride (TG) levels by both being a potent stimulator of apo-CII lipoprotein lipase
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01442	Apolipoprotein	55 → 262	Apolipoprotein A1/A4/E domain	Domain
  PF01442	Apolipoprotein	264 → 358	Apolipoprotein A1/A4/E domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Liver and plasma. {ECO:0000269|PubMed:11577099, ECO:0000269|PubMed:11588264, ECO:0000269|PubMed:15528295}.
• Sequence:

  MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSL
  EQDLNNMNKFLEKLRPLSGSEAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGW
  NLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKAQLLGGVDEAWALLQGLQSRV
  VHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
  ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFT
  RAIDQETEEVQQQLAPPPPGHSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGH
  SHLGDP

• Sequence length: 366

Pathways

KEGG:

PPAR signaling pathway

Reactome:

PPARA activates gene expression
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Chylomicron remodeling

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
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs761704440, rs758216033, rs755144803, rs1341621315, rs2540246645, rs201079485, rs774150500	RCV002335151 RCV002409701 RCV002403354 RCV004661629 RCV003339156 RCV002436266 RCV003166584	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial type 5 hyperlipoproteinemia	Pathogenic; Likely pathogenic	rs121917821, rs1941014739, rs201079485, rs774150500, rs1940989106	RCV000004654 RCV003134709 RCV002289560 RCV002246249 RCV001290185	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperlipoproteinemia	Pathogenic	rs201079485	RCV005896583	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertriglyceridemia	Pathogenic	rs201079485	RCV001249015	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertriglyceridemia 1	Pathogenic; Likely pathogenic	rs201079485, rs774150500	RCV000768551 RCV001836651	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
APOA5-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APOLIPOPROTEIN A5 DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE III	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE IV	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE V	—	CTD, Disgenet, GenCC CTD, Disgenet, GenCC CTD, Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia, type I	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA, TYPE V	—	HPO	★★☆☆☆ 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
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ 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
Acute pancreatitis	Pancreatitis	BEFREE	29921298, 30700132		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	24793350, 29398535		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31670185		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	19910639	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	27152866	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	14729863, 16474174, 17635078, 19665689, 19910639, 20869952, 21463987, 25770687, 29425239, 30132804		★☆☆☆☆ Found in Text Mining only
Atheroeruptive xanthoma	Atheroeruptive xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	14729863, 16474174, 17635078, 19665689, 19910639, 20869952, 21463987, 25770687, 30132804		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	14729863		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	14729863, 16474174, 17157483, 18537870, 19910639, 21463987	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36071494	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33492284	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37248957	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	12671030, 15342688, 15447887, 15877284, 16321685, 17157483, 18159097, 18607181, 20395964, 20429872, 20490738, 21209257, 23000317, 28252576, 29264753, 30700132		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	12671030, 15342688, 15447887, 18159097, 20490738, 21054477, 21209257, 24725463, 26824674, 36071387, 36690263	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	15342688		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	19665689		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	21463987	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	18577813, 27415775, 28635360	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	16954607, 17922054, 18274806, 19847674, 20158509, 21238903, 29398535, 31327072		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	18274806		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	25311932		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	31186008		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	11588264, 14729863, 15177130, 15306190, 15542401, 15604515, 15877284, 16006256, 16046221, 16054149, 16176166, 16258166, 16682041, 16769999, 17356049, 18415697, 19159622, 19878569, 20452521, 20802161, 21143013, 21548985, 21858147, 21914952, 22914599, 23970179, 26309253, 26387083, 26505382, 26782469, 27516387, 27716220, 29263402, 29425239, 29866721, 31836003		★★☆☆☆ 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	11588264, 14729863, 15177130, 15306190, 15542401, 15604515, 15877284, 16006256, 16046221, 16054149, 16176166, 16258166, 16682041, 16769999, 17356049, 18415697, 18801202, 19159622, 20452521, 20802161, 21143013, 21438666, 21548985, 21858147, 21914952, 22914599, 23050023, 23129316, 23970179, 25034063, 26309253, 26387083, 26505382, 26782469, 27257688, 27516387, 27716220, 28143480, 28705542, 29263402, 29309886, 29425239, 29866721, 30024021, 30606120, 31836003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	15604515, 16258166, 16769999, 18801202, 19159622, 19878569, 19910639, 20802161, 23050023, 25034063, 27257688, 28257648, 29263402, 29310573, 29866721, 30024021, 30606120, 35278410, 35964012	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	16258166, 18801202		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	19185864	Inhibit	★★☆☆☆ 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 Artery Disease	Coronary artery disease	GWASCAT_DG	29212778, 29263402		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	14729863, 17032446, 20452521, 25502724, 26387083, 27716220, 29866721, 32437778	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	11588264, 14729863, 15177130, 15306190, 15542401, 15604515, 15877284, 16006256, 16046221, 16054149, 16176166, 16258166, 16321685, 16682041, 16769999, 17356049, 18415697, 19159622, 20452521, 20802161, 21143013, 21548985, 21858147, 21914952, 22914599, 23970179, 25502724, 26309253, 26387083, 26397108, 26477595, 26505382, 26782469, 27516387, 27716220, 29263402, 29425239, 29866721, 31836003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	LHGDN	15300628, 15877284, 17356049, 18579034		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	16448983, 18596051, 19765959, 23000317, 24402875		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	15961791, 32134946	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	15961791, 17032446, 17197160, 27322064	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16448983, 18596051, 19765959, 19878569, 20303129, 22648266, 23000317, 24402875		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	LHGDN	17548321		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	15636639, 17197160, 24690159, 27322064, 30600310, 35886029	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	23922971		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15636639, 16006256, 16752169, 16917759, 17087641, 17197160, 18468520, 21438666, 22350263, 23919616, 23922971, 24586566, 24690159, 24775272, 28500476, 28848612, 30783475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36071387	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17493548		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	17493548		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	16375582, 16680034, 16887900, 17700364, 18468520, 18601598, 18658049, 19055447, 21132386, 21889769, 22517333, 22576629, 23266809, 23633496, 26345861, 26365669, 27716220, 30385734		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	LHGDN	18468520, 18601598, 18658049, 19055447		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	19910639, 21889769, 22517333, 22840581, 23254630, 24191141, 24721317, 26365669, 27716220, 28610615, 31929604, 32437778, 35461093, 36419087, 40428368	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	32134946	Inhibit	★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	31903892	Associate	★☆☆☆☆ Found in Text Mining only
Familial apolipoprotein A5 deficiency	Apolipoprotein A5 Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart Diseases	BEFREE	22209939		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	35964012	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	23312054		★☆☆☆☆ Found in Text Mining only
Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial	Hyperchylomicronemia With Hyperprebetalipoproteinemia	ORPHANET_DG	25732519, 29980054		★☆☆☆☆ Found in Text Mining only
Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial	Hyperchylomicronemia With Hyperprebetalipoproteinemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	35854768	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	LHGDN	15684402		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	12937897, 16887900, 19034316, 23312054, 29425239, 29758349		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	LHGDN	16143024		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia Familial Combined	Hyperlipidemia	Pubtator	17157483	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	14551155, 16680034, 17157483, 25308402		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	LHGDN	17157483		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	12671030, 19034316, 21463987, 24646025, 27777315	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	15591215, 16200213, 18468520, 19447388, 24793350, 27578123, 28951076, 30389453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	Pubtator	16200213, 26079787, 29288010, 29748148, 30948399, 32375710, 36978188	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	23312054		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type III	Hyperlipoproteinemia	BEFREE	16143024, 21463987, 21993410		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type III	Hyperlipoproteinemia	CTD_human_DG	16143024		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type III	Hyperlipoproteinemia	Pubtator	19034316, 38044203	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IV	Hyperlipoproteinemia	GENOMICS_ENGLAND_DG	16200213, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IV	Hyperlipoproteinemia	BEFREE	21831376		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IV	Hyperlipoproteinemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IV	Hyperlipoproteinemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type V	Hyperlipoproteinemia	BEFREE	16200213, 27678447		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type V	Hyperlipoproteinemia	GENOMICS_ENGLAND_DG	16200213, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type V	Hyperlipoproteinemia	Pubtator	16861622, 19656773	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type V	Hyperlipoproteinemia	ORPHANET_DG	25732519, 29980054		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type V	Hyperlipoproteinemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type V	Hyperlipoproteinemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemias	Hyperlipoproteinemia	LHGDN	18779834		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	BEFREE	23150946		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25587205, 30929539	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32134946	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	15177130, 24402875, 24684850, 29398535, 30929539		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	12709436, 15636639, 16200213, 16365833, 16907993, 17457003, 17722232, 17919884, 17922054, 18424353, 18441017, 19056598, 19159622, 20429872, 20490738, 20657596, 23151256, 23307945, 24387992, 24529129, 24690159, 24903888, 25034063, 25843152, 26079787, 26687706, 29211729, 29910226, 29921298, 30422238, 30466821, 30606120, 30885219, 32115487, 33567543, 35387941, 35741823, 35854768, 36077235, 36613909, 36921196, 39662927	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	16861622	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	12671030	Associate	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemia Familial Apolipoprotein B	Hypoalphalipoproteinemia	Pubtator	18324930	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	24690159	Associate	★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotriglyceridemia	Hypotriglyceridemia	BEFREE	30385734		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	32382544	Inhibit	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	34422134	Associate	★☆☆☆☆ Found in Text Mining only
Insulin-resistant diabetes mellitus	Insulin-resistant diabetes mellitus	BEFREE	15961791		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	16954607, 18274806, 18577813, 19847674, 21238903, 22688093, 23065249, 28623937, 28635360, 28865324, 29398535		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	36071387	Associate	★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	25515090		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21339203		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	31077206		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	21339203		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	30422238		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24623848		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	17183147, 23000317		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	32134946	Inhibit	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	36690263	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	12697303, 17768309, 17922054, 18159097, 18789138, 19828688, 20054229, 21054477, 21324458, 23509746, 24618354, 25646961, 26365620, 26824674, 27051036, 27827461, 28102463, 28371326, 31910446, 33986338, 38201907, 39198834	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	16806226, 17635078, 17766366, 17768309, 17922054, 18159097, 18601598, 18789138, 19055447, 19344899, 19665689, 19692219, 19828688, 19932084, 20054229, 21054477, 21324458, 21473680, 21643755, 22576629, 22905904, 23000317, 23468858, 23509746, 24161374, 24618354, 24709297, 25646961, 26365620, 26702748, 26760709, 26824674, 27053630, 27827461, 28102463, 28371326, 29212154, 29504307, 30053818, 30381540, 30472712, 30910668		★☆☆☆☆ 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, 28371326, 31170924		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	14984471, 16176166, 16192625, 16311097, 21130994, 23248205, 24402875, 25487149, 27678447		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	25487149, 35058120	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	16954607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	17922054	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nervous System Diseases	Nervous system disease	Pubtator	31397093	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Hyperlipoproteinemia type 4	Hyperlipoproteinemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	21339203, 26028042, 29312569, 29735301		★☆☆☆☆ Found in Text Mining only
Nuchal bleb, familial	Nuchal Bleb	BEFREE	17157483, 19732897, 25308402		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	16474174, 18537870, 19629056, 20134407, 21209257, 24023260, 24903888, 25137265, 26365669, 27322064, 28927406, 31662442, 33500527, 33983957, 34422134, 35745158, 38497884	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17211608, 18537870, 18596051, 19629056, 20134407, 21209257, 23000317, 24402875, 24903888, 25263629, 26365669, 26524954, 28901468, 28927406, 29797594, 30053818, 31327072, 31560287		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	17032446, 26079787, 30948399, 31901151, 37768328	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	26079787, 30948399		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	CTD_human_DG	25137265		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24623848		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24623848	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	24684850	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17726453		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	30600310	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	27206623		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	24529129	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	17922054, 18577813	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	37098010	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	18159097, 25034063	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	24979386		★☆☆☆☆ Found in Text Mining only