APOA2 (apolipoprotein A2)

Gene

• Entrez ID: 336
• Gene name: Apolipoprotein A2
• Gene symbol: APOA2
• Synonyms (NCBI Gene): Apo-AII, ApoA-II, apoAII
• Chromosome: 1
• Chromosome location: 1q23.3
• Summary: This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may resul

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs771259264	C>T	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT789751	hsa-miR-193a-3p	CLIP-seq
MIRT789752	hsa-miR-193b	CLIP-seq
MIRT789753	hsa-miR-28-5p	CLIP-seq
MIRT789754	hsa-miR-3117-3p	CLIP-seq
MIRT789755	hsa-miR-3132	CLIP-seq
MIRT789756	hsa-miR-3139	CLIP-seq
MIRT789757	hsa-miR-3169	CLIP-seq
MIRT789758	hsa-miR-4435	CLIP-seq
MIRT789759	hsa-miR-4455	CLIP-seq
MIRT789760	hsa-miR-4481	CLIP-seq
MIRT789761	hsa-miR-4515	CLIP-seq
MIRT789762	hsa-miR-4745-5p	CLIP-seq
MIRT789763	hsa-miR-4759	CLIP-seq
MIRT789764	hsa-miR-548p	CLIP-seq
MIRT789765	hsa-miR-609	CLIP-seq
MIRT789766	hsa-miR-708	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HNF4A	Unknown	1639815
NR2F1	Unknown	1639815
NR2F6	Unknown	1639815
USF1	Unknown	9880489
USF2	Unknown	9880489

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
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	IDA	1606170
GO:0005515	Function	Protein binding	IPI	11991719, 17786215, 25416956, 29892012, 32296183
GO:0005543	Function	Phospholipid binding	IDA	218942
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005769	Component	Early endosome	TAS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006641	Process	Triglyceride metabolic process	TAS	11551871
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IDA	14967812
GO:0008035	Function	High-density lipoprotein particle binding	IBA	21873635
GO:0008203	Process	Cholesterol metabolic process	IBA	21873635
GO:0008289	Function	Lipid binding	IDA	14967812
GO:0009395	Process	Phospholipid catabolic process	IDA	14967812
GO:0009749	Process	Response to glucose	IDA	14988251
GO:0010873	Process	Positive regulation of cholesterol esterification	IDA	14967812
GO:0010903	Process	Negative regulation of very-low-density lipoprotein particle remodeling	IDA	14967812
GO:0015485	Function	Cholesterol binding	IBA	21873635
GO:0015485	Function	Cholesterol binding	IDA	218942
GO:0016032	Process	Viral process	IEA
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:0030301	Process	Cholesterol transport	IBA	21873635
GO:0031072	Function	Heat shock protein binding	IPI	11027668
GO:0031210	Function	Phosphatidylcholine binding	IBA	21873635
GO:0031210	Function	Phosphatidylcholine binding	IDA	17264082
GO:0031647	Process	Regulation of protein stability	IDA	14967812
GO:0032375	Process	Negative regulation of cholesterol transport	IMP	8636092
GO:0032757	Process	Positive regulation of interleukin-8 production	IDA	11591715
GO:0033344	Process	Cholesterol efflux	IDA	11162594
GO:0033700	Process	Phospholipid efflux	IDA	11162594
GO:0034190	Function	Apolipoprotein receptor binding	IBA	21873635
GO:0034190	Function	Apolipoprotein receptor binding	IPI	11162594
GO:0034361	Component	Very-low-density lipoprotein particle	IBA	21873635
GO:0034361	Component	Very-low-density lipoprotein particle	IDA	8245722
GO:0034364	Component	High-density lipoprotein particle	IDA	210174, 3104518, 17264082
GO:0034364	Component	High-density lipoprotein particle	TAS	27477018
GO:0034366	Component	Spherical high-density lipoprotein particle	IBA	21873635
GO:0034366	Component	Spherical high-density lipoprotein particle	IDA	16682745
GO:0034370	Process	Triglyceride-rich lipoprotein particle remodeling	IBA	21873635
GO:0034370	Process	Triglyceride-rich lipoprotein particle remodeling	IDA	14967812
GO:0034371	Process	Chylomicron remodeling	TAS
GO:0034374	Process	Low-density lipoprotein particle remodeling	IBA	21873635
GO:0034374	Process	Low-density lipoprotein particle remodeling	IDA	8106353
GO:0034375	Process	High-density lipoprotein particle remodeling	IBA	21873635
GO:0034375	Process	High-density lipoprotein particle remodeling	IDA	8106353, 14967812
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	218942
GO:0034384	Process	High-density lipoprotein particle clearance	IDA	10764676
GO:0042157	Process	Lipoprotein metabolic process	IBA	21873635
GO:0042627	Component	Chylomicron	IBA	21873635
GO:0042627	Component	Chylomicron	IDA	8245722
GO:0042632	Process	Cholesterol homeostasis	IBA	21873635
GO:0042632	Process	Cholesterol homeostasis	IDA	14967812
GO:0042803	Function	Protein homodimerization activity	IDA	17264082
GO:0043687	Process	Post-translational protein modification	TAS
GO:0043691	Process	Reverse cholesterol transport	IDA	14967812
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0046340	Process	Diacylglycerol catabolic process	IDA	14967812
GO:0046982	Function	Protein heterodimerization activity	IPI	7918467, 8245722
GO:0050766	Process	Positive regulation of phagocytosis	IDA	20495215
GO:0050821	Process	Protein stabilization	IDA	20495215
GO:0050995	Process	Negative regulation of lipid catabolic process	IDA	14967812
GO:0050996	Process	Positive regulation of lipid catabolic process	IDA	8640403
GO:0055102	Function	Lipase inhibitor activity	IBA	21873635
GO:0055102	Function	Lipase inhibitor activity	IDA	14967812
GO:0060192	Process	Negative regulation of lipase activity	IBA	21873635
GO:0060192	Process	Negative regulation of lipase activity	IDA	14967812
GO:0060228	Function	Phosphatidylcholine-sterol O-acyltransferase activator activity	IDA	14967812
GO:0060621	Process	Negative regulation of cholesterol import	IDA	10764676
GO:0060695	Process	Negative regulation of cholesterol transporter activity	IDA	8106353
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0070653	Function	High-density lipoprotein particle receptor binding	IBA	21873635
GO:0070653	Function	High-density lipoprotein particle receptor binding	IPI	10764676
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120020	Function	Cholesterol transfer activity	IDA	9651324

Other IDs

• MIM: 107670
• HGNC: 601
• e!Ensembl: ENSG00000158874

Protein

• UniProt ID: P02652
• Protein name: Apolipoprotein A-II (Apo-AII) (ApoA-II) (Apolipoprotein A2) [Cleaved into: Proapolipoprotein A-II (ProapoA-II); Truncated apolipoprotein A-II (Apolipoprotein A-II(1-76))]
• Protein function: May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04711	ApoA-II	24 → 98	Apolipoprotein A-II (ApoA-II)	Family

• Tissue specificity: TISSUE SPECIFICITY: Plasma; synthesized in the liver and intestine.
• Sequence:

  MKLLAATVLLLTICSLEGALVRRQAKEPCVESLVSQYFQTVTDYGKDLMEKVKSPELQAE
  AKSYFEKSKEQLTPLIKKAGTELVNFLSYFVELGTQPATQ

• Sequence length: 100

Pathways

KEGG:

PPAR signaling pathway
Cholesterol metabolism

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 assembly
Chylomicron remodeling
Retinoid metabolism and transport

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Hypercholesterolemia	Hypercholesterolemia, Hypercholesterolemia, Familial	rs28942111, rs28942112, rs137852912, 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, 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	12522687
Hyperlipoproteinemia	Hyperlipoproteinemia Type IIa, Hyperlipoproteinemia Type IIb	rs118204056, rs118204057, rs118204058, rs118204059, rs1563572716, rs118204060, rs118204067, rs118204062, rs118204074, rs118204063, rs118204064, rs1563569634, rs118204065, rs118204066, rs1563575252, rs118204068, rs118204069, rs118204070, rs766134215, rs118204071, rs118204072, rs118204073, rs118204075, rs118204076, rs118204077, rs118204078, rs118204079, rs118204080, rs118204081, rs118204082, rs121917821, rs121918393, rs397514253, rs397514254, rs121918394, rs2122132718, rs121918396, rs121918397, rs387906567, rs587777637, rs587777638, rs587777639, rs587777640, rs587777641, rs587777642, rs587777643, rs886037774, rs201079485, rs1554517725, rs371282890, rs35414700	12522687

Unknown
Disease term	Disease name	Evidence	References	Source
Amyloidosis	apolipoprotein A-II amyloidosis			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	11703582, 12787390, 7639323
Alzheimer Disease	Associate	28943632, 35011591
Amyloidosis	Associate	11703582, 29455155
Amyloidosis Familial	Associate	11849445, 12787390, 29455155
Amyloidosis familial visceral	Associate	11703582
Arthritis Psoriatic	Stimulate	22649206
Atherosclerosis	Associate	12576517
Atherosclerosis	Inhibit	33889392
Carcinoma Hepatocellular	Stimulate	22726459
Carcinoma Hepatocellular	Associate	33327311
Carcinoma Pancreatic Ductal	Inhibit	27002321
Carcinoma Renal Cell	Associate	20022911
Cardiomyopathies	Associate	12787390
Cardiomyopathy Dilated	Associate	27711126
Cardiovascular Diseases	Associate	17709437, 32174066, 38213254
Charcot Marie Tooth Disease	Associate	3122561
Cholangiocarcinoma	Associate	33327311
Cognitive Dysfunction	Associate	35011591
Coronary Artery Disease	Associate	35866398, 7635967
Coronary Artery Disease Development of in HIV	Associate	34472376
Coronary Disease	Associate	3035501
COVID 19	Associate	37228606
Death	Associate	26933035
Diabetes Mellitus	Associate	10412780, 11067779, 27578111
Diabetes Mellitus Type 2	Associate	27578111, 28545455, 32235466, 33889392, 35883173
Down Syndrome	Associate	20622492
Dyslipidemias	Associate	26365669
Endometriosis	Associate	11163832, 15831286
Esophageal Neoplasms	Associate	35568702
Glioma	Associate	31104065
Guillain Barre Syndrome	Inhibit	38143756
Hemolytic Uremic Syndrome	Inhibit	10412780
Hernia	Associate	23631828
Hypercholesterolemia	Associate	26365669
Hyperlipidemias	Associate	17709437
Hyperlipoproteinemia Type IV	Stimulate	33588820
Hypertriglyceridemia	Associate	17709437, 26365669, 33588820
Idiopathic Pulmonary Fibrosis	Associate	28122020
Inflammation	Associate	32174066, 34762399
Insulin Resistance	Associate	20975728, 32830851
Kidney Diseases	Associate	12787390, 32174066
Kidney Neoplasms	Associate	26933035
Lecithin Cholesterol Acyltransferase Deficiency	Associate	28351888, 8282802
Multiple Myeloma	Associate	15146166
Multiple Sclerosis	Stimulate	33603109
Muscular Dystrophy Emery Dreifuss	Associate	35011591
Neoplasms	Associate	34814333, 39201484
Neuralgia Postherpetic	Associate	37966014
Non alcoholic Fatty Liver Disease	Associate	31503515
Non ST Elevated Myocardial Infarction	Inhibit	33667626
Obesity	Associate	19901143, 20975728, 21386805, 26365669, 29901700, 33983957, 34472376, 38062157, 38213254
Osteoporosis	Associate	37874452
Ovarian Neoplasms	Associate	11163832
Pancreatic Neoplasms	Associate	20588270, 27002321
Pancreatic Neoplasms	Inhibit	24349355
Parkinson Disease	Associate	28943632
Plaque Amyloid	Associate	12787390
Post Acute COVID 19 Syndrome	Associate	37228606
Prostatic Neoplasms	Associate	22740474
Pulmonary Arterial Hypertension	Associate	19023114
Rhinitis Allergic	Associate	31185305
Sarcoma	Associate	16274472, 9716033
Sarcopenia	Associate	36192674
Squamous Cell Carcinoma of Head and Neck	Associate	37686462
Stiff Skin Syndrome	Associate	26933035
Stomach Neoplasms	Associate	36430456
Tangier Disease	Inhibit	3934306, 7693760
Tangier Disease	Associate	6631230, 7130397
Thyroid Cancer Papillary	Associate	34814333
Urinary Bladder Neoplasms	Associate	23631828
Vision Disorders	Associate	26933035
Weight Loss	Associate	21386805, 28545455, 38062157
Xanthomatosis	Associate	3934306, 7693760
Xanthomatosis Cerebrotendinous	Associate	7298854