GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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APOA1 (apolipoprotein A1)

Gene

335

Apolipoprotein A1

APOA1

HPALP2, apo(a)

11q23.3

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 to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]

Show/Hide all(30)

miRTarBase ID	miRNA	Experiments	Reference
MIRT449573	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT449574	hsa-miR-558	PAR-CLIP	22100165
MIRT449575	hsa-miR-3158-5p	PAR-CLIP	22100165
MIRT449576	hsa-miR-4740-3p	PAR-CLIP	22100165
MIRT449577	hsa-miR-135b-5p	PAR-CLIP	22100165
MIRT449578	hsa-miR-135a-5p	PAR-CLIP	22100165
MIRT483214	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT483214	hsa-miR-4747-5p	PAR-CLIP	24398324
MIRT483214	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT483215	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT483215	hsa-miR-5196-5p	PAR-CLIP	24398324
MIRT483215	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT483216	hsa-miR-3202	PAR-CLIP	23592263
MIRT483216	hsa-miR-3202	PAR-CLIP	24398324
MIRT483216	hsa-miR-3202	PAR-CLIP	20371350
MIRT483217	hsa-miR-3179	PAR-CLIP	23592263
MIRT483217	hsa-miR-3179	PAR-CLIP	24398324
MIRT483217	hsa-miR-3179	PAR-CLIP	20371350
MIRT499157	hsa-miR-3663-3p	PAR-CLIP	24398324
MIRT499158	hsa-miR-181d-3p	PAR-CLIP	24398324
MIRT528208	hsa-miR-6722-5p	PAR-CLIP	22012620
MIRT528209	hsa-miR-1305	PAR-CLIP	22012620
MIRT528210	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT783388	hsa-miR-1289	HITS-CLIP	27418678
MIRT784608	hsa-miR-3135b	HITS-CLIP	27418678
MIRT784803	hsa-miR-3198	HITS-CLIP	27418678
MIRT785601	hsa-miR-4294	HITS-CLIP	27418678
MIRT785676	hsa-miR-4309	HITS-CLIP	27418678
MIRT785718	hsa-miR-431-5p	HITS-CLIP	27418678
MIRT789931	hsa-miR-924	HITS-CLIP	27418678

Transcription factors

Show/Hide all(4)

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

Show/Hide all(135)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001540	Function	Amyloid-beta binding	IDA	11297421
GO:0001540	Function	Amyloid-beta binding	IPI	9211985
GO:0001932	Process	Regulation of protein phosphorylation	IEA
GO:0001935	Process	Endothelial cell proliferation	IEA
GO:0002576	Process	Platelet degranulation	TAS
GO:0002719	Process	Negative regulation of cytokine production involved in immune response	IDA	12458630
GO:0005102	Function	Signaling receptor binding	IPI	27477018
GO:0005515	Function	Protein binding	IPI	1587806, 11297421, 11991719, 12084722, 12917409, 15174051, 17676061, 17786215, 19758344, 23719382, 25241761, 25416956, 25910212, 28565870, 28887769, 30458687, 31270237, 32296183, 32814053
GO:0005543	Function	Phospholipid binding	IBA	21873635
GO:0005543	Function	Phospholipid binding	IDA	12810715
GO:0005576	Component	Extracellular region	HDA	27068509
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	ISS	22261194
GO:0005634	Component	Nucleus	IEA
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:0006656	Process	Phosphatidylcholine biosynthetic process	IDA	4335615
GO:0006695	Process	Cholesterol biosynthetic process	IBA	21873635
GO:0006898	Process	Receptor-mediated endocytosis	TAS
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:0007584	Process	Response to nutrient	IEA
GO:0008035	Function	High-density lipoprotein particle binding	IEA
GO:0008203	Process	Cholesterol metabolic process	IMP	15464323
GO:0008211	Process	Glucocorticoid metabolic process	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010804	Process	Negative regulation of tumor necrosis factor-mediated signaling pathway	IDA	21571275
GO:0010873	Process	Positive regulation of cholesterol esterification	IBA	21873635
GO:0010873	Process	Positive regulation of cholesterol esterification	IDA	4335615
GO:0010875	Process	Positive regulation of cholesterol efflux	IDA	27472885
GO:0010898	Process	Positive regulation of triglyceride catabolic process	IBA	21873635
GO:0010903	Process	Negative regulation of very-low-density lipoprotein particle remodeling	IDA	14967812
GO:0014012	Process	Peripheral nervous system axon regeneration	IEA
GO:0015485	Function	Cholesterol binding	IBA	21873635
GO:0015485	Function	Cholesterol binding	IDA	15464323
GO:0018158	Process	Protein oxidation	IDA	12576517
GO:0018206	Process	Peptidyl-methionine modification	IDA	12576517
GO:0019216	Process	Regulation of lipid metabolic process	TAS
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	IBA	21873635
GO:0030301	Process	Cholesterol transport	IDA	10559507
GO:0030325	Process	Adrenal gland development	IEA
GO:0031072	Function	Heat shock protein binding	IPI	11027668
GO:0031100	Process	Animal organ regeneration	IEA
GO:0031210	Function	Phosphatidylcholine binding	IBA	21873635
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	21873635
GO:0033344	Process	Cholesterol efflux	IDA	11162594, 14703508, 15358760, 16443932, 21481393
GO:0033344	Process	Cholesterol efflux	IMP	12202492
GO:0033700	Process	Phospholipid efflux	IBA	21873635
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:0034361	Component	Very-low-density lipoprotein particle	IDA	17154273
GO:0034362	Component	Low-density lipoprotein particle	IEA
GO:0034363	Component	Intermediate-density lipoprotein particle	IEA
GO:0034364	Component	High-density lipoprotein particle	IBA	21873635
GO:0034364	Component	High-density lipoprotein particle	IDA	210174, 3104518, 9211985, 15464323, 21571275
GO:0034364	Component	High-density lipoprotein particle	TAS	27477018
GO:0034365	Component	Discoidal high-density lipoprotein particle	IEA
GO:0034366	Component	Spherical high-density lipoprotein particle	IDA	16682745
GO:0034371	Process	Chylomicron remodeling	TAS
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IBA	21873635
GO:0034375	Process	High-density lipoprotein particle remodeling	IC	4335615
GO:0034375	Process	High-density lipoprotein particle remodeling	IDA	21481393
GO:0034375	Process	High-density lipoprotein particle remodeling	TAS
GO:0034378	Process	Chylomicron assembly	TAS
GO:0034380	Process	High-density lipoprotein particle assembly	IBA	21873635
GO:0034380	Process	High-density lipoprotein particle assembly	IDA	190223
GO:0034380	Process	High-density lipoprotein particle assembly	TAS
GO:0034384	Process	High-density lipoprotein particle clearance	IC	12651854
GO:0034384	Process	High-density lipoprotein particle clearance	TAS
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	IBA	21873635
GO:0042158	Process	Lipoprotein biosynthetic process	IEA
GO:0042493	Process	Response to drug	IEA
GO:0042627	Component	Chylomicron	IBA	21873635
GO:0042632	Process	Cholesterol homeostasis	IBA	21873635
GO:0042632	Process	Cholesterol homeostasis	IDA	21571275
GO:0042632	Process	Cholesterol homeostasis	IMP	15464323
GO:0042802	Function	Identical protein binding	IPI	8049247, 17676061, 18719128, 20133843, 20884842, 22184756, 22609356, 24316228, 24702826
GO:0043534	Process	Blood vessel endothelial cell migration	IEA
GO:0043627	Process	Response to estrogen	IEA
GO:0043687	Process	Post-translational protein modification	TAS
GO:0043691	Process	Reverse cholesterol transport	IBA	21873635
GO:0043691	Process	Reverse cholesterol transport	IMP	15464323
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0045499	Function	Chemorepellent activity	IDA	23726972
GO:0045723	Process	Positive regulation of fatty acid biosynthetic process	IBA	21873635
GO:0046470	Process	Phosphatidylcholine metabolic process	IBA	21873635
GO:0046889	Process	Positive regulation of lipid biosynthetic process	IBA	21873635
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:0051006	Process	Positive regulation of lipoprotein lipase activity	IBA	21873635
GO:0051180	Process	Vitamin transport	IMP	15140193
GO:0051345	Process	Positive regulation of hydrolase activity	IDA	7638166
GO:0051496	Process	Positive regulation of stress fiber assembly	IDA	23726972
GO:0055085	Process	Transmembrane transport	TAS
GO:0055091	Process	Phospholipid homeostasis	IDA	21571275
GO:0055102	Function	Lipase inhibitor activity	IEA
GO:0060192	Process	Negative regulation of lipase activity	IEA
GO:0060228	Function	Phosphatidylcholine-sterol O-acyltransferase activator activity	IBA	21873635
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:0062023	Component	Collagen-containing extracellular matrix	HDA	27559042
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0070328	Process	Triglyceride homeostasis	IBA	21873635
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	IBA	21873635
GO:0070653	Function	High-density lipoprotein particle receptor binding	IPI	10764676, 12651854
GO:0071682	Component	Endocytic vesicle lumen	TAS
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120020	Function	Cholesterol transfer activity	IDA	9651324
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

MIM	HGNC	e!Ensembl
107680	600	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 complex, activates spermatozoa motility.

PDB

1AV1 , 1GW3 , 1GW4 , 1ODP , 1ODQ , 1ODR , 2MSC , 2MSD , 2MSE , 2N5E , 3K2S , 3R2P , 4V6M , 6CC9 , 6CCH , 6CCX , 6CLZ , 6CM1 , 6PTS , 6PTW , 6W4E , 6W4F , 7KJR

Family and domains

Pfam

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

Sequence

MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGS
ALGKQLNLKLLDNWDSVTSTFSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAK
VQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHELQEKLSPLGEEMRDRARAHV
DALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
GLLPVLESFKVSFLSALEEYTKKLNTQ

Sequence length

267

Interactions

View interactions

	KEGG		Reactome
	PPAR signaling pathway Fat digestion and absorption Vitamin digestion and absorption Cholesterol metabolism African trypanosomiasis Lipid and atherosclerosis		Platelet degranulation ABC transporters in lipid homeostasis PPARA activates gene expression Scavenging of heme from plasma Scavenging by Class B Receptors 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

Show/Hide Causal Diseases (18)

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	19424620, 15378696
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs-1, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs751141, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255
Lcat deficiency	Familial LCAT deficiency	rs267607211, rs121908048, rs794726662, rs121908049, rs-1, rs121908054, rs28942087, rs28940887, rs794726663, rs28940888, rs121908055, rs776035233, rs779114194, rs140068549	10073988
Friedreich ataxia	Ataxia with vitamin E deficiency	rs104894105, rs140987490, rs104894106, rs104894108, rs56214919, rs141935559, rs886037630, rs143232208, rs146818694, rs-1	18458655
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	27135400
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	15378696
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs-1, rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	19381893
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Amyloidosis	Amyloidosis, familial visceral	rs63750567, rs63750560, rs387906821, rs387906822, rs387906823, rs1561123748, rs140352180, rs770211260, rs763065333, rs1554300664, rs747723062, rs773435101	8208902, 3142462, 27240838, 1502149, 2123470, 27604308, 31482740, 16925563
Hypertension	Hypertensive disease	rs13306026	18224302
Hypoalphalipoproteinemia	Hypoalphalipoproteinemia, Familial	rs387906412, rs137854499, rs387906415, rs-1, rs121912723, rs387906570, rs121912725, rs121912727, rs2134233729, rs146292819	8282791, 27604308, 8240372
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	19180532
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474, rs-1	15378696
Apolipoprotein a1 deficiency	Apolipoprotein A-I deficiency	rs-1
Behcet syndrome	Behcet Syndrome	rs886040969, rs886039866, rs746055479, rs752615209, rs774164456, rs751454741	12074830

Show/Hide Unknown Diseases (16)

Unknown
Disease name	Disease term	dbSNP ID	References
Aapoai amyloidosis	AApoAI amyloidosis
Amyloid polyneuropathy	Amyloid Polyneuropathy, Iowa Type
Childhood obesity	Pediatric Obesity		25137265
Coronary arteriosclerosis	Coronary Arteriosclerosis		27135400
Diabetic cardiomyopathy	Diabetic Cardiomyopathies		18332268
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis
Heymann nephritis	Heymann Nephritis		7900854
Lipid metabolism disorders	Lipid Metabolism Disorders		6816881
Liver carcinoma	Liver carcinoma		21472284
Lung neoplasms	Lung Neoplasms		19180532
Malignant mesothelioma	Malignant mesothelioma		23056237
Membranous glomerulonephritis	Membranous glomerulonephritis, Idiopathic Membranous Glomerulonephritis		7900854
Renal glomerular disease	Renal glomerular disease
Stomach neoplasms	Malignant neoplasm of stomach, Stomach Neoplasms		15378696, 19424620
Stroke	Cerebrovascular accident, Acute Cerebrovascular Accidents		19433014
Xanthomatosis	Xanthomatosis

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