APOA4 (apolipoprotein A4)

Gene

• Entrez ID: 337
• Gene name: Apolipoprotein A4
• Gene symbol: APOA4
• Synonyms (NCBI Gene): ADTKD6
• Disease Acronyms (UniProt): ADTKD6
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3`UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs5110	C>A	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2173137	hsa-miR-4461	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PPARA	Unknown	19433068

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0002227	Process	Innate immune response in mucosa	IDA	15254593
GO:0005319	Function	Lipid transporter activity	TAS	3080432
GO:0005507	Function	Copper ion binding	IDA	16945374
GO:0005515	Function	Protein binding	IPI	24311788, 32296183, 32814053
GO:0005543	Function	Phospholipid binding	IBA	21873635
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IDA	1935934
GO:0005769	Component	Early endosome	TAS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006695	Process	Cholesterol biosynthetic process	IBA	21873635
GO:0006869	Process	Lipid transport	IDA	1935934, 3095477
GO:0006982	Process	Response to lipid hydroperoxide	IDA	16945374
GO:0007159	Process	Leukocyte cell-cell adhesion	IDA	15254593
GO:0008203	Process	Cholesterol metabolic process	IDA	1935934
GO:0008289	Function	Lipid binding	IMP	16159879
GO:0009986	Component	Cell surface	IDA	1935934
GO:0010873	Process	Positive regulation of cholesterol esterification	IBA	21873635
GO:0010873	Process	Positive regulation of cholesterol esterification	IDA	1935934
GO:0010898	Process	Positive regulation of triglyceride catabolic process	IBA	21873635
GO:0010898	Process	Positive regulation of triglyceride catabolic process	IDA	2307668
GO:0015485	Function	Cholesterol binding	IBA	21873635
GO:0016042	Process	Lipid catabolic process	IDA	3095477
GO:0016209	Function	Antioxidant activity	IDA	16945374
GO:0019430	Process	Removal of superoxide radicals	IDA	16945374
GO:0030300	Process	Regulation of intestinal cholesterol absorption	IBA	21873635
GO:0031210	Function	Phosphatidylcholine binding	IBA	21873635
GO:0031210	Function	Phosphatidylcholine binding	IDA	1935934, 11940599
GO:0032374	Process	Regulation of cholesterol transport	IDA	11940599
GO:0033344	Process	Cholesterol efflux	IBA	21873635
GO:0033344	Process	Cholesterol efflux	IDA	1935934, 11162594
GO:0033700	Process	Phospholipid efflux	IBA	21873635
GO:0033700	Process	Phospholipid efflux	IDA	11162594
GO:0034361	Component	Very-low-density lipoprotein particle	IDA	3095477, 17154273
GO:0034364	Component	High-density lipoprotein particle	IBA	21873635
GO:0034364	Component	High-density lipoprotein particle	IDA	3095477
GO:0034371	Process	Chylomicron remodeling	IC	2307668
GO:0034371	Process	Chylomicron remodeling	TAS
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IBA	21873635
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IDA	2307668
GO:0034375	Process	High-density lipoprotein particle remodeling	IC	1935934
GO:0034378	Process	Chylomicron assembly	TAS	16159879
GO:0034380	Process	High-density lipoprotein particle assembly	IBA	21873635
GO:0034445	Process	Negative regulation of plasma lipoprotein oxidation	IDA	16945374
GO:0035634	Process	Response to stilbenoid	IEA
GO:0042157	Process	Lipoprotein metabolic process	IBA	21873635
GO:0042627	Component	Chylomicron	IBA	21873635
GO:0042627	Component	Chylomicron	IDA	3095477
GO:0042632	Process	Cholesterol homeostasis	IBA	21873635
GO:0042632	Process	Cholesterol homeostasis	IDA	1935934
GO:0042744	Process	Hydrogen peroxide catabolic process	IDA	16945374
GO:0042802	Function	Identical protein binding	IPI	22579246
GO:0042803	Function	Protein homodimerization activity	IDA	1935934
GO:0043691	Process	Reverse cholesterol transport	IBA	21873635
GO:0043691	Process	Reverse cholesterol transport	IDA	3095477
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0045723	Process	Positive regulation of fatty acid biosynthetic process	IBA	21873635
GO:0045723	Process	Positive regulation of fatty acid biosynthetic process	IDA	2307668
GO:0046470	Process	Phosphatidylcholine metabolic process	IBA	21873635
GO:0046470	Process	Phosphatidylcholine metabolic process	IDA	1935934
GO:0046889	Process	Positive regulation of lipid biosynthetic process	IBA	21873635
GO:0051006	Process	Positive regulation of lipoprotein lipase activity	IBA	21873635
GO:0051006	Process	Positive regulation of lipoprotein lipase activity	IDA	2307668
GO:0055088	Process	Lipid homeostasis	IDA	3095477
GO:0060228	Function	Phosphatidylcholine-sterol O-acyltransferase activator activity	IBA	21873635
GO:0060228	Function	Phosphatidylcholine-sterol O-acyltransferase activator activity	IDA	1935934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	27559042
GO:0065005	Process	Protein-lipid complex assembly	IMP	16159879
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070328	Process	Triglyceride homeostasis	IBA	21873635
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120020	Function	Cholesterol transfer activity	IDA	1935934

Other IDs

• MIM: 107690
• HGNC: 602
• e!Ensembl: ENSG00000110244

Protein

• UniProt ID: P06727
• Protein name: Apolipoprotein A-IV (Apo-AIV) (ApoA-IV) (Apolipoprotein A4)
• Protein function: May have a role in chylomicrons and VLDL secretion and catabolism. Required for efficient activation of lipoprotein lipase by ApoC-II; potent activator of LCAT. Apoa-IV is a major component of HDL and chylomicrons.
• PDB: 3S84
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01442	Apolipoprotein	61 → 250	Apolipoprotein A1/A4/E domain	Domain
  PF01442	Apolipoprotein	244 → 393	Apolipoprotein A1/A4/E domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Synthesized primarily in the intestine and secreted in plasma.
• Sequence:

  MFLKAVVLTLALVAVAGARAEVSADQVATVMWDYFSQLSNNAKEAVEHLQKSELTQQLNA
  LFQDKLGEVNTYAGDLQKKLVPFATELHERLAKDSEKLKEEIGKELEELRARLLPHANEV
  SQKIGDNLRELQQRLEPYADQLRTQVSTQAEQLRRQLTPYAQRMERVLRENADSLQASLR
  PHADELKAKIDQNVEELKGRLTPYADEFKVKIDQTVEELRRSLAPYAQDTQEKLNHQLEG
  LTFQMKKNAEELKARISASAEELRQRLAPLAEDVRGNLRGNTEGLQKSLAELGGHLDQQV
  EEFRRRVEPYGENFNKALVQQMEQLRQKLGPHAGDVEGHLSFLEKDLRDKVNSFFSTFKE
  KESQDKTLSLPELEQQQEQQQEQQQEQVQMLAPLES

• Sequence length: 396

Pathways

KEGG:

Fat digestion and absorption
Vitamin digestion and absorption
Cholesterol metabolism
Lipid and atherosclerosis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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	16030523
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	16030523
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	25821032

Unknown
Disease term	Disease name	Evidence	References	Source
Atherosclerosis	Atherosclerosis		15822908	ClinVar
Multiple Sclerosis	Multiple Sclerosis			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	15146166, 21900878, 22155582, 35008745, 36209425
Adenocarcinoma	Associate	36171259
Adenoma	Associate	37565794
Adenomatous Polyposis Coli	Associate	37565794
Alzheimer Disease	Inhibit	26491253
Alzheimer Disease	Associate	37307028
Amyloidosis	Associate	21900878, 35418036
Atherosclerosis	Inhibit	15175360, 16105043, 27600335
Atherosclerosis	Associate	20554794, 9925658
Blood Platelet Disorders	Associate	40074081
Breast Neoplasms	Stimulate	22311183
Breast Neoplasms	Inhibit	39195217
Bronchiolitis Obliterans Syndrome	Associate	19379511
Carcinoma Hepatocellular	Associate	29998871
Carcinoma Squamous Cell	Associate	25427637
Cardiovascular Diseases	Associate	15175360, 18948973, 25733664, 40074081
Cardiovascular Diseases	Inhibit	23288849
Chronic Disease	Associate	27622441
Chylomicron retention disease	Associate	1985110
Coronary Artery Disease	Associate	25034063, 27257688, 27350024, 28257648
Coronary Disease	Associate	12676816, 15175360, 32437778
COVID 19	Associate	37924708
Depressive Disorder	Associate	26491253, 27447786
Diabetes Mellitus	Associate	15175360, 20855567, 25733664, 28821713
Diabetes Mellitus Type 2	Associate	17654446, 32235466
Diabetic Nephropathies	Associate	32921312
Duodenal Neoplasms	Associate	37565794
Dyslipidemias	Associate	28610615, 3105587, 32437778
Endometrial Hyperplasia	Associate	21489304
Enterocolitis Necrotizing	Associate	36371157
Fabry Disease	Associate	38395389
Femur Head Necrosis	Inhibit	29207081
Fetal Growth Retardation	Associate	38069155
Fibrosis	Associate	17625010
Glioblastoma	Associate	29513714
Glomerulosclerosis Focal Segmental	Associate	36293475
Graves Ophthalmopathy	Stimulate	36561758
Guillain Barre Syndrome	Associate	18343991
Hepatitis Alcoholic	Associate	36614113
Huntington Disease	Stimulate	21297956
Hyperlipidemias	Associate	9925658
Hyperlipoproteinemia Type II	Associate	27112635
Hypertriglyceridemia	Associate	25034063
Hypertriglyceridemic Waist	Associate	3105587
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	21900878
Inflammation	Associate	18948973, 32113117, 37357772
Insulin Resistance	Associate	32830851
Irritable Bowel Syndrome	Associate	28191693
Leptospirosis	Associate	22554907
Leukemia	Associate	23849470
Leukemia Myeloid Acute	Associate	28407176
Lupus Erythematosus Systemic	Stimulate	28675715
Metabolic Syndrome	Associate	12697303, 18789138, 21324458, 26824674
Mouth Neoplasms	Associate	30987719
Multiple Myeloma	Associate	15146166
Neoplasms	Associate	22311183, 22994745
Neoplasms	Inhibit	30987719
Neoplasms Adipose Tissue	Associate	20554794, 28821713
Nervous System Diseases	Associate	25082408
Non alcoholic Fatty Liver Disease	Associate	31503515
Obesity	Associate	20855567, 23288849, 25733664, 27622441, 9925658
Obesity Metabolically Benign	Associate	27106679
Olfaction Disorders	Associate	37924708
Optic Atrophy Hereditary Leber	Stimulate	18061280
Ovarian Neoplasms	Associate	22994745
Overweight	Associate	27622441
Pancreatic Neoplasms	Associate	28514751
Peritoneal Fibrosis	Associate	28673451
Plaque Amyloid	Associate	23592924
Pneumonia Lipid	Associate	25005712
Polycythemia	Associate	26485402
Post Acute COVID 19 Syndrome	Associate	37924708
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	23849470
Renal Insufficiency Chronic	Associate	16105043, 32046176
Renal Insufficiency Chronic	Stimulate	38395389
Stomach Diseases	Associate	26485402
Stomach Neoplasms	Associate	32176636
Subarachnoid Hemorrhage	Associate	37357772
Takotsubo Cardiomyopathy	Associate	39513871
Thrombosis	Inhibit	40074081
Thyroid Cancer Papillary	Associate	30058426
Trigeminal Neuralgia	Associate	32553624
Vascular Diseases	Associate	17686771, 25034063
Vasospasm Intracranial	Associate	25082408
Weight Loss	Associate	18948973
Wounds and Injuries	Associate	36614113