APOA1 (apolipoprotein A1)

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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

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

miRNA Show/Hide all (63)

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

Transcription factors

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

Gene ontology (GO) Show/Hide all (121)

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

Other IDs

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

Protein

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

  Pfam

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

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

  MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGS
  ALGKQLNLKLLDNWDSVTSTFSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAK
  VQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHELQEKLSPLGEEMRDRARAHV
  DALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
  GLLPVLESFKVSFLSALEEYTKKLNTQ

• Sequence length: 267

Pathways

KEGG Pathway	Reactome Pathway
PPAR signaling pathway	Platelet degranulation
Fat digestion and absorption	ABC transporters in lipid homeostasis
Vitamin digestion and absorption	PPARA activates gene expression
Cholesterol metabolism	Scavenging of heme from plasma
African trypanosomiasis	Scavenging by Class B Receptors
Lipid and atherosclerosis	Scavenging by Class A Receptors
	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
	Defective ABCA1 causes Tangier disease
	Post-translational protein phosphorylation
	Chylomicron assembly
	HDL assembly
	Chylomicron remodeling
	HDL clearance
	HDL remodeling
	Retinoid metabolism and transport
	Amyloid fiber formation

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 Show/Hide Causal Diseases (9)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
APOLIPOPROTEIN A-I (MARBURG)	Pathogenic	rs121912716	RCV000019500	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APOLIPOPROTEIN A-I (MILANO)	Pathogenic	rs28931573	RCV000019498	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APOLIPOPROTEIN A-I (MUNSTER3C)	Pathogenic	rs121912720	RCV000019503	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APOLIPOPROTEIN A-I (NORWAY)	Pathogenic	rs121912718	RCV000019502	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs372520221, rs781350389	RCV002439206 RCV004417719 RCV005453055	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial amyloid polyneuropathy, Iowa type	Likely pathogenic; Pathogenic	rs372520221, rs28931574, rs121912724, rs2134231440, rs121912726, rs28931575, rs387906571, rs121912729, rs121912730	RCV005040302 RCV000019506 RCV004555838 RCV004555841 RCV004555842 RCV004555844 RCV004555845 RCV004555846 RCV004555847	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial visceral amyloidosis, Ostertag type	Likely pathogenic; Pathogenic	rs1591331259, rs28931574, rs781350389	RCV003314532 RCV005249993 RCV002493133	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoalphalipoproteinemia, primary, 2	Likely pathogenic; Pathogenic	rs372520221, rs2134230655, rs2134231221, rs28931574, rs1440319688, rs121912723, rs387906570, rs121912725, rs121912727, rs2134233729, rs781350389	RCV005040302 RCV001837078 RCV002251036 RCV005003396 RCV004555836 RCV004555837 RCV004555839 RCV004555840 RCV004555843 RCV000019523 RCV002493133	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoalphalipoproteinemia, primary, 2, intermediate	Likely pathogenic; Pathogenic	rs372520221, rs28931574, rs121912718, rs781350389	RCV005040302 RCV005003396 RCV004555928 RCV002493133	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (42)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AAPOAI AMYLOIDOSIS	—	GWAS catalog	19324996	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOID POLYNEUROPATHY, IOWA TYPE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, FAMILIAL VISCERAL	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, HEREDITARY SYSTEMIC 3	—	HPO	32022753,12050338,27240838,26515634	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APOA1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APOLIPOPROTEIN A-I (BALTIMORE)	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APOLIPOPROTEIN A-I (GIESSEN)	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APOLIPOPROTEIN A-I (MUNSTER3B)	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APOLIPOPROTEIN A-I (MUNSTER4)	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APOLIPOPROTEIN A-I AMYLOIDOSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apolipoprotein A-I deficiency	Uncertain significance	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	8240372, 8240372, 8282791, 8282791	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATAXIA WITH VITAMIN E DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	18458655	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	33861588	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	CTD, Disgenet CTD, Disgenet	12074830	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	21472284	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD	27135400	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	18332268	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	CTD	20972769	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial High Density Lipoprotein Deficiency	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL VISCERAL AMYLOIDOSIS	—	GenCC	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, FAMILIAL	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	18224302	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoalphalipoproteinemia, primary, 1	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOXIA	—	CTD	18258771	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	19180532	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMBRANOUS GLOMERULONEPHRITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	23056237	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	38201907	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	15378696, 19424620	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD	19433014	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	38201907	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (490)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AApoAI amyloidosis	AApoAI amyloidosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abetalipoproteinemia	Abetalipoproteinemia	Pubtator	7852858	Inhibit	★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	19433014		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	16039279, 28992985, 30984786, 31324073, 8176109		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	19122170		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	31188743		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	29183667		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	14666619		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	14666619		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ABCA1 5 shared diseasesApolipoprotein a-i deficiency, Atherosclerosis, Ischemic heart disease, Hypercholesterolemia, Hypoalphalipoproteinemia 6 shared pathwaysFat digestion and absorption, Cholesterol metabolism, Lipid and atherosclerosis, PPARA activates gene expression, Defective ABCA1 causes Tangier disease, HDL assembly 12 shared evidence sourcesDisgenet (Alzheimer disease), Disgenet (Apolipoprotein a-i deficiency), GWAS catalog (Apolipoprotein a-i deficiency), Orphanet (Apolipoprotein a-i deficiency), CTD (Atherosclerosis), Disgenet (Atherosclerosis), Disgenet (Ischemic heart disease), Disgenet (Coronary artery disease), Disgenet (Hypercholesterolemia), Disgenet (Hypoalphalipoproteinemia), ClinVar (Hypoalphalipoproteinemia), HPO (Hypoalphalipoproteinemia) Related via 6 shared pathways including Fat digestion and absorption, Cholesterol metabolism — evidence mostly Disgenet. APOB 6 shared diseasesAtaxia with vitamin e deficiency, Atherosclerosis, Behcet disease, Ischemic heart disease, Hypercholesterolemia, Hypoalphalipoproteinemia 11 shared pathwaysFat digestion and absorption, Vitamin digestion and absorption, Cholesterol metabolism, Lipid and atherosclerosis, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Post-translational protein phosphorylation, Retinoid metabolism and transport, Chylomicron remodeling, Scavenging by Class A Receptors, Scavenging by Class B Receptors, Chylomicron assembly 10 shared evidence sourcesCTD (Ataxia with vitamin e deficiency), Disgenet (Ataxia with vitamin e deficiency), Disgenet (Behcet disease), CTD (Behcet disease), Disgenet (Ischemic heart disease), Disgenet (Coronary artery disease), CTD (Coronary artery disease), Disgenet (Hypercholesterolemia), Disgenet (Hypoalphalipoproteinemia), HPO (Hypoalphalipoproteinemia) Related via 11 shared pathways including Fat digestion and absorption, Vitamin digestion and absorption — evidence mostly Disgenet. APOC3 3 shared diseasesIschemic heart disease, Hypercholesterolemia, Lung neoplasms 6 shared pathwaysPPAR signaling pathway, Cholesterol metabolism, Retinoid metabolism and transport, HDL remodeling, Chylomicron remodeling, Chylomicron assembly 5 shared evidence sourcesDisgenet (Ischemic heart disease), Disgenet (Coronary artery disease), CTD (Coronary artery disease), Disgenet (Hypercholesterolemia), CTD (Lung neoplasms) Related via 6 shared pathways including PPAR signaling pathway, Cholesterol metabolism — evidence mostly Disgenet. APOE 6 shared diseasesAmyloidosis, Atherosclerosis, Cerebrovascular disorder, Ischemic heart disease, Hypercholesterolemia, Lung neoplasms 8 shared pathwaysCholesterol metabolism, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Post-translational protein phosphorylation, Retinoid metabolism and transport, HDL remodeling, Chylomicron remodeling, Scavenging by Class A Receptors, Chylomicron assembly 12 shared evidence sourcesDisgenet (Amyloidosis), Disgenet (Alzheimer disease), CTD (Atherosclerosis), Disgenet (Atherosclerosis), Disgenet (Cerebrovascular disorder), Disgenet (Ischemic heart disease), Disgenet (Coronary artery disease), CTD (Coronary artery disease), CTD (Hypertension), Disgenet (Hypercholesterolemia), CTD (Lung neoplasms), Disgenet (Myocardial infarction) Related via 8 shared pathways including Cholesterol metabolism, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) — evidence mostly Disgenet. APOA4 2 shared diseasesAtherosclerosis, Hypercholesterolemia 4 shared pathwaysFat digestion and absorption, Vitamin digestion and absorption, Cholesterol metabolism, Lipid and atherosclerosis 5 shared evidence sourcesDisgenet (Alzheimer disease), CTD (Atherosclerosis), Disgenet (Atherosclerosis), Disgenet (Hypercholesterolemia), Disgenet (Myocardial infarction) Related via 4 shared pathways including Fat digestion and absorption, Vitamin digestion and absorption — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ABCA1	5	["Apolipoprotein a-i deficiency","Atherosclerosis","Ischemic heart disease","Hypercholesterolemia","Hypoalphalipoproteinemia"]	6	["Fat digestion and absorption","Cholesterol metabolism","Lipid and atherosclerosis","PPARA activates gene expression","Defective ABCA1 causes Tangier disease","HDL assembly"]	12	["Disgenet (Alzheimer disease)","Disgenet (Apolipoprotein a-i deficiency)","GWAS catalog (Apolipoprotein a-i deficiency)","Orphanet (Apolipoprotein a-i deficiency)","CTD (Atherosclerosis)","Disgenet (Atherosclerosis)","Disgenet (Ischemic heart disease)","Disgenet (Coronary artery disease)","Disgenet (Hypercholesterolemia)","Disgenet (Hypoalphalipoproteinemia)","ClinVar (Hypoalphalipoproteinemia)","HPO (Hypoalphalipoproteinemia)"]
APOB	6	["Ataxia with vitamin e deficiency","Atherosclerosis","Behcet disease","Ischemic heart disease","Hypercholesterolemia","Hypoalphalipoproteinemia"]	11	["Fat digestion and absorption","Vitamin digestion and absorption","Cholesterol metabolism","Lipid and atherosclerosis","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)","Post-translational protein phosphorylation","Retinoid metabolism and transport","Chylomicron remodeling","Scavenging by Class A Receptors","Scavenging by Class B Receptors","Chylomicron assembly"]	10	["CTD (Ataxia with vitamin e deficiency)","Disgenet (Ataxia with vitamin e deficiency)","Disgenet (Behcet disease)","CTD (Behcet disease)","Disgenet (Ischemic heart disease)","Disgenet (Coronary artery disease)","CTD (Coronary artery disease)","Disgenet (Hypercholesterolemia)","Disgenet (Hypoalphalipoproteinemia)","HPO (Hypoalphalipoproteinemia)"]
APOC3	3	["Ischemic heart disease","Hypercholesterolemia","Lung neoplasms"]	6	["PPAR signaling pathway","Cholesterol metabolism","Retinoid metabolism and transport","HDL remodeling","Chylomicron remodeling","Chylomicron assembly"]	5	["Disgenet (Ischemic heart disease)","Disgenet (Coronary artery disease)","CTD (Coronary artery disease)","Disgenet (Hypercholesterolemia)","CTD (Lung neoplasms)"]
APOE	6	["Amyloidosis","Atherosclerosis","Cerebrovascular disorder","Ischemic heart disease","Hypercholesterolemia","Lung neoplasms"]	8	["Cholesterol metabolism","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)","Post-translational protein phosphorylation","Retinoid metabolism and transport","HDL remodeling","Chylomicron remodeling","Scavenging by Class A Receptors","Chylomicron assembly"]	12	["Disgenet (Amyloidosis)","Disgenet (Alzheimer disease)","CTD (Atherosclerosis)","Disgenet (Atherosclerosis)","Disgenet (Cerebrovascular disorder)","Disgenet (Ischemic heart disease)","Disgenet (Coronary artery disease)","CTD (Coronary artery disease)","CTD (Hypertension)","Disgenet (Hypercholesterolemia)","CTD (Lung neoplasms)","Disgenet (Myocardial infarction)"]
APOA4	2	["Atherosclerosis","Hypercholesterolemia"]	4	["Fat digestion and absorption","Vitamin digestion and absorption","Cholesterol metabolism","Lipid and atherosclerosis"]	5	["Disgenet (Alzheimer disease)","CTD (Atherosclerosis)","Disgenet (Atherosclerosis)","Disgenet (Hypercholesterolemia)","Disgenet (Myocardial infarction)"]

Diseases Linked via Similar Genes

Hyperlipoproteinemia Linked via 5 of 5 related genesABCA1, APOB, APOC3, APOE, APOA4 Hyperlipidemia Linked via 4 of 5 related genesABCA1, APOB, APOC3, APOE Kidney failure Linked via 3 of 5 related genesABCA1, APOC3, APOE Schizophrenia Linked via 3 of 5 related genesABCA1, APOE, APOA4 Cardiovascular disease Linked via 3 of 5 related genesAPOB, APOC3, APOE

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Hyperlipoproteinemia	5	["ABCA1","APOB","APOC3","APOE","APOA4"]
Hyperlipidemia	4	["ABCA1","APOB","APOC3","APOE"]
Kidney failure	3	["ABCA1","APOC3","APOE"]
Schizophrenia	3	["ABCA1","APOE","APOA4"]
Cardiovascular disease	3	["APOB","APOC3","APOE"]