ANGPTL3 (angiopoietin like 3)

Gene

• Entrez ID: 27329
• Gene name: Angiopoietin like 3
• Gene symbol: ANGPTL3
• Synonyms (NCBI Gene): ANG-5, ANGPT5, ANL3, FHBL2
• Disease Acronyms (UniProt): FHBL2
• Chromosome: 1
• Chromosome location: 1p31.3
• Summary: This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fib

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT689043	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT689042	hsa-miR-6736-3p	HITS-CLIP	23313552
MIRT689041	hsa-miR-4485-5p	HITS-CLIP	23313552
MIRT689040	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT689039	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT689038	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT689037	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT689036	hsa-miR-1281	HITS-CLIP	23313552
MIRT689035	hsa-miR-4772-3p	HITS-CLIP	23313552
MIRT689034	hsa-miR-4695-3p	HITS-CLIP	23313552
MIRT689033	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT689032	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT689031	hsa-miR-23a-5p	HITS-CLIP	23313552
MIRT689030	hsa-miR-23b-5p	HITS-CLIP	23313552
MIRT689029	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT689028	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT689027	hsa-miR-498	HITS-CLIP	23313552
MIRT560429	hsa-miR-4302	PAR-CLIP	20371350
MIRT560427	hsa-miR-4289	PAR-CLIP	20371350
MIRT560428	hsa-miR-145-3p	PAR-CLIP	20371350
MIRT560426	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560425	hsa-miR-6077	PAR-CLIP	20371350
MIRT560424	hsa-miR-6717-5p	PAR-CLIP	20371350
MIRT560423	hsa-miR-8053	PAR-CLIP	20371350
MIRT560422	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT560421	hsa-miR-644a	PAR-CLIP	20371350
MIRT560420	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT560419	hsa-miR-4752	PAR-CLIP	20371350
MIRT560417	hsa-miR-670-3p	PAR-CLIP	20371350
MIRT544207	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT544206	hsa-miR-548ab	PAR-CLIP	21572407
MIRT544205	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT544204	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT544203	hsa-miR-548ak	PAR-CLIP	21572407
MIRT544202	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT544201	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT544200	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT544199	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT544198	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT544197	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT544196	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT544195	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT544194	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT544193	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT544192	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT544191	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT544189	hsa-miR-548i	PAR-CLIP	21572407
MIRT544190	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT544188	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT544187	hsa-miR-548w	PAR-CLIP	21572407
MIRT544186	hsa-miR-548y	PAR-CLIP	21572407
MIRT544185	hsa-miR-559	PAR-CLIP	21572407
MIRT544184	hsa-miR-548av-5p	PAR-CLIP	21572407
MIRT544183	hsa-miR-548k	PAR-CLIP	21572407
MIRT544182	hsa-miR-8054	PAR-CLIP	21572407
MIRT544181	hsa-miR-548l	PAR-CLIP	21572407
MIRT544180	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT544179	hsa-miR-5692b	PAR-CLIP	21572407
MIRT544178	hsa-miR-5692c	PAR-CLIP	21572407
MIRT544177	hsa-miR-633	PAR-CLIP	21572407
MIRT544176	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT544175	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT539281	hsa-miR-4802-3p	PAR-CLIP	22012620
MIRT539280	hsa-miR-7845-5p	PAR-CLIP	22012620
MIRT539279	hsa-miR-3121-5p	PAR-CLIP	22012620
MIRT539278	hsa-miR-1206	PAR-CLIP	22012620
MIRT539277	hsa-miR-6516-3p	PAR-CLIP	22012620
MIRT539276	hsa-miR-7156-3p	PAR-CLIP	22012620
MIRT539275	hsa-miR-135b-3p	PAR-CLIP	22012620
MIRT539274	hsa-miR-3674	PAR-CLIP	22012620
MIRT689043	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT689042	hsa-miR-6736-3p	HITS-CLIP	23313552
MIRT689041	hsa-miR-4485-5p	HITS-CLIP	23313552
MIRT689040	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT689039	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT689038	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT689037	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT689036	hsa-miR-1281	HITS-CLIP	23313552
MIRT689035	hsa-miR-4772-3p	HITS-CLIP	23313552
MIRT689034	hsa-miR-4695-3p	HITS-CLIP	23313552
MIRT689033	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT689032	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT689031	hsa-miR-23a-5p	HITS-CLIP	23313552
MIRT689030	hsa-miR-23b-5p	HITS-CLIP	23313552
MIRT689029	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT689028	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT689027	hsa-miR-498	HITS-CLIP	23313552
MIRT560429	hsa-miR-4302	PAR-CLIP	20371350
MIRT560427	hsa-miR-4289	PAR-CLIP	20371350
MIRT560428	hsa-miR-145-3p	PAR-CLIP	20371350
MIRT560426	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560425	hsa-miR-6077	PAR-CLIP	20371350
MIRT560424	hsa-miR-6717-5p	PAR-CLIP	20371350
MIRT560423	hsa-miR-8053	PAR-CLIP	20371350
MIRT560422	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT560421	hsa-miR-644a	PAR-CLIP	20371350
MIRT560420	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT560419	hsa-miR-4752	PAR-CLIP	20371350
MIRT560417	hsa-miR-670-3p	PAR-CLIP	20371350
MIRT544207	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT544206	hsa-miR-548ab	PAR-CLIP	21572407
MIRT544205	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT544204	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT544203	hsa-miR-548ak	PAR-CLIP	21572407
MIRT544202	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT544201	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT544200	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT544199	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT544198	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT544197	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT544196	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT544195	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT544194	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT544193	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT544192	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT544191	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT544189	hsa-miR-548i	PAR-CLIP	21572407
MIRT544190	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT544188	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT544187	hsa-miR-548w	PAR-CLIP	21572407
MIRT544186	hsa-miR-548y	PAR-CLIP	21572407
MIRT544185	hsa-miR-559	PAR-CLIP	21572407
MIRT544184	hsa-miR-548av-5p	PAR-CLIP	21572407
MIRT544183	hsa-miR-548k	PAR-CLIP	21572407
MIRT544182	hsa-miR-8054	PAR-CLIP	21572407
MIRT544181	hsa-miR-548l	PAR-CLIP	21572407
MIRT544180	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT544179	hsa-miR-5692b	PAR-CLIP	21572407
MIRT544178	hsa-miR-5692c	PAR-CLIP	21572407
MIRT544177	hsa-miR-633	PAR-CLIP	21572407
MIRT544176	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT544175	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT539281	hsa-miR-4802-3p	PAR-CLIP	22012620
MIRT539280	hsa-miR-7845-5p	PAR-CLIP	22012620
MIRT539279	hsa-miR-3121-5p	PAR-CLIP	22012620
MIRT539278	hsa-miR-1206	PAR-CLIP	22012620
MIRT539277	hsa-miR-6516-3p	PAR-CLIP	22012620
MIRT539276	hsa-miR-7156-3p	PAR-CLIP	22012620
MIRT539275	hsa-miR-135b-3p	PAR-CLIP	22012620
MIRT539274	hsa-miR-3674	PAR-CLIP	22012620
MIRT781529	hsa-miR-1244	CLIP-seq
MIRT781530	hsa-miR-134	CLIP-seq
MIRT781531	hsa-miR-3118	CLIP-seq
MIRT781532	hsa-miR-3145-5p	CLIP-seq
MIRT781533	hsa-miR-3164	CLIP-seq
MIRT781534	hsa-miR-3658	CLIP-seq
MIRT781535	hsa-miR-4501	CLIP-seq
MIRT781536	hsa-miR-4662a-3p	CLIP-seq
MIRT781537	hsa-miR-4699-3p	CLIP-seq
MIRT781538	hsa-miR-508-5p	CLIP-seq
MIRT781539	hsa-miR-548c-3p	CLIP-seq
MIRT781540	hsa-miR-577	CLIP-seq
MIRT781541	hsa-miR-944	CLIP-seq
MIRT781529	hsa-miR-1244	CLIP-seq
MIRT781530	hsa-miR-134	CLIP-seq
MIRT781531	hsa-miR-3118	CLIP-seq
MIRT781533	hsa-miR-3164	CLIP-seq
MIRT781535	hsa-miR-4501	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0004857	Function	Enzyme inhibitor activity	ISS
GO:0004859	Function	Phospholipase inhibitor activity	IDA	17110602
GO:0005102	Function	Signaling receptor binding	IBA	21873635
GO:0005178	Function	Integrin binding	IPI	11877390
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	17110602
GO:0005769	Component	Early endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006071	Process	Glycerol metabolic process	IDA	12565906
GO:0006631	Process	Fatty acid metabolic process	IDA	12565906
GO:0006644	Process	Phospholipid metabolic process	IDA	17110602
GO:0007160	Process	Cell-matrix adhesion	IPI	11877390
GO:0007165	Process	Signal transduction	IDA	11877390
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	11877390
GO:0008083	Function	Growth factor activity	IDA	11877390
GO:0008201	Function	Heparin binding	IEA
GO:0008203	Process	Cholesterol metabolic process	IDA	17110602
GO:0009395	Process	Phospholipid catabolic process	IBA	21873635
GO:0009395	Process	Phospholipid catabolic process	IDA	17110602
GO:0009725	Process	Response to hormone	IEA
GO:0009986	Component	Cell surface	IDA	12565906
GO:0010519	Process	Negative regulation of phospholipase activity	IBA	21873635
GO:0010519	Process	Negative regulation of phospholipase activity	IDA	17110602
GO:0019915	Process	Lipid storage	IDA	12565906
GO:0030027	Component	Lamellipodium	IEA
GO:0030335	Process	Positive regulation of cell migration	IDA	11877390
GO:0042632	Process	Cholesterol homeostasis	IBA	21873635
GO:0042632	Process	Cholesterol homeostasis	IDA	17110602
GO:0045766	Process	Positive regulation of angiogenesis	IDA	11877390
GO:0048844	Process	Artery morphogenesis	ISS
GO:0050996	Process	Positive regulation of lipid catabolic process	IDA	12565906
GO:0051004	Process	Regulation of lipoprotein lipase activity	TAS
GO:0051005	Process	Negative regulation of lipoprotein lipase activity	IDA	17110602, 19542565
GO:0055088	Process	Lipid homeostasis	IDA	17110602
GO:0055090	Process	Acylglycerol homeostasis	IDA	17110602
GO:0055091	Process	Phospholipid homeostasis	IBA	21873635
GO:0055091	Process	Phospholipid homeostasis	IDA	17110602
GO:0062023	Component	Collagen-containing extracellular matrix	IBA	21873635
GO:0070328	Process	Triglyceride homeostasis	IBA	21873635
GO:0070328	Process	Triglyceride homeostasis	IGI	23150577
GO:0070328	Process	Triglyceride homeostasis	ISS

Other IDs

• MIM: 604774
• HGNC: 491
• e!Ensembl: ENSG00000132855

Protein

• UniProt ID: Q9Y5C1
• Protein name: Angiopoietin-related protein 3 (Angiopoietin-5) (ANG-5) (Angiopoietin-like protein 3) [Cleaved into: ANGPTL3(17-221); ANGPTL3(17-224)]
• Protein function: Acts in part as a hepatokine that is involved in regulation of lipid and glucose metabolism (PubMed:11788823, PubMed:12909640, PubMed:23661675, PubMed:25495645). Proposed to play a role in the trafficking of energy substrates to either storage o
• PDB: 6EUA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00147	Fibrinogen_C	242 → 454	Fibrinogen beta and gamma chains, C-terminal globular domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed principally in liver. Weakly expressed in kidney. Binds to adipocytes. Increased expression and colocalization with activated ITGB3 in glomeruli of patients with nephrotic syndrome showing effaced podocyte foot processes (at
• Sequence:

  MFTIKLLLFIVPLVISSRIDQDNSSFDSLSPEPKSRFAMLDDVKILANGLLQLGHGLKDF
  VHKTKGQINDIFQKLNIFDQSFYDLSLQTSEIKEEEKELRRTTYKLQVKNEEVKNMSLEL
  NSKLESLLEEKILLQQKVKYLEEQLTNLIQNQPETPEHPEVTSLKTFVEKQDNSIKDLLQ
  TVEDQYKQLNQQHSQIKEIENQLRRTSIQEPTEISLSSKPRAPRTTPFLQLNEIRNVKHD
  GIPAECTTIYNRGEHTSGMYAIRPSNSQVFHVYCDVISGSPWTLIQHRIDGSQNFNETWE
  NYKYGFGRLDGEFWLGLEKIYSIVKQSNYVLRIELEDWKDNKHYIEYSFYLGNHETNYTL
  HLVAITGNVPNAIPENKDLVFSTWDHKAKGHFNCPEGYSGGWWWHDECGENNLNGKYNKP
  RAKSKPERRRGLSWKSQNGRLYSIKSTKMLIHPTDSESFE

• Sequence length: 460

Pathways

KEGG:

Cholesterol metabolism

Reactome:

Assembly of active LPL and LIPC lipase complexes
NR1H2 & NR1H3 regulate gene expression linked to lipogenesis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Hypercholesterolemia	Hypercholesterolemia	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
Hypobetalipoproteinemia	Hypobetalipoproteinemia, Familial, 2, NON RARE IN EUROPE: Familial hypobetalipoproteinemia	rs281865425, rs397514255, rs121918383, rs121918384, rs121918385, rs121918386, rs387906569, rs397514256, rs121918387, rs121918389, rs121918390, rs587776852, rs1572800245, rs606231236, rs797045253, rs143301836, rs1057518647, rs1553382678, rs756209187, rs759934326, rs1553383898, rs1553384177, rs1553384441, rs1553385404

Associations from Text Mining
Disease Name	Relationship Type	References
Abetalipoproteinemia	Associate	27179706
Adenocarcinoma of Lung	Inhibit	22048948
Anorexia Nervosa	Associate	29695708
Atherosclerosis	Associate	29618844, 33580780, 33887960, 37626170
Atherosclerosis	Inhibit	34865644, 38243829
Atrophy	Associate	35755170
Breast Neoplasms	Associate	31642813
Bronchopulmonary Dysplasia	Associate	35595912
Carcinoma Hepatocellular	Associate	32443377
Carcinoma Renal Cell	Associate	34484467, 37919459
Carcinoma Renal Cell	Inhibit	37375208
Cardiovascular Diseases	Inhibit	24058201
Cardiovascular Diseases	Associate	30683883
Cerebral Infarction	Associate	29454388, 38243829
Colorectal Neoplasms	Associate	38127052
Coronary Artery Disease	Associate	26800306, 29454388, 29713054, 36416040, 38243829
Coronary Artery Disease	Stimulate	32440963
Coronary Disease	Associate	21804106
Coronary Occlusion	Associate	36416040
Diabetes Gestational	Inhibit	32494035
Diabetes Mellitus	Inhibit	24058201, 35932065
Diabetes Mellitus	Associate	30683883
Diabetes Mellitus Type 2	Stimulate	27733177
Disease	Associate	33772079
Dyslipidemias	Associate	22896670
Fetal Macrosomia	Inhibit	32494035
Fibrosis	Inhibit	32582222, 34360721
Hepatitis C	Associate	34360721
Hypercholesterolemia	Associate	34067751
Hyperlipidemia Familial Combined	Associate	33772079
Hyperlipidemias	Associate	27040449
Hyperlipoproteinemia Type II	Associate	33242792, 33691480, 38385290
Hyperlipoproteinemia Type IV	Stimulate	33588820
Hyperlipoproteinemia Type V	Associate	19656773
Hyperlipoproteinemias	Associate	19656773
Hypertension	Associate	29454388, 29989339
Hypertriglyceridemia	Associate	33588820
Hypobetalipoproteinemia Familial 2	Associate	20942659, 22659251, 24058201, 27040449, 28633452, 33772079
Hypobetalipoproteinemias	Associate	21502677, 27179706
Hypothyroidism	Associate	38385290
Infant Premature Diseases	Associate	35595912
Infections	Inhibit	34360721
Inflammation	Inhibit	32582222
Inflammation	Associate	33351885
Insulin Resistance	Associate	34067751
Klippel Trenaunay Weber Syndrome	Associate	36416040
Leukemia Myeloid Acute	Associate	39300580
Lipid Metabolism Disorders	Associate	32440963
Lipodystrophy Familial Partial	Associate	34865644
Metabolic Syndrome	Associate	29695708, 38243829
Mouth Neoplasms	Associate	36580015
Neoplasm Metastasis	Inhibit	34484467
Neoplasms	Associate	31642813, 34484467, 34685578, 35038961, 36580015
Neoplasms	Inhibit	37375208
Obesity	Associate	25244256, 27733177, 35052431
Obesity	Inhibit	32494035
Ovarian Neoplasms	Associate	26260910
Pre Eclampsia	Associate	36088594
Prostatic Neoplasms	Associate	30361641
Sarcoma	Associate	37375208
Sleep Apnea Obstructive	Stimulate	32440963
Squamous Cell Carcinoma of Head and Neck	Associate	36580015
Stomach Neoplasms	Inhibit	32410376, 38127052
Stomach Neoplasms	Associate	37290894
Tangier Disease	Associate	28330813
Uterine Cervical Neoplasms	Associate	35038961
Vascular Remodeling	Inhibit	32582222