ANGPTL4 (angiopoietin like 4)

Gene

• Entrez ID: 51129
• Gene name: Angiopoietin like 4
• Gene symbol: ANGPTL4
• Synonyms (NCBI Gene): ARP4, FIAF, HARP, HFARP, NL2, PGAR, TGQTL, UNQ171, pp1158
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022740	hsa-miR-124-3p	Microarray	18668037
MIRT023828	hsa-miR-1-3p	Microarray	18668037
MIRT438920	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT438920	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT438920	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT438920	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT731623	hsa-miR-134-5p	Immunoblot, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	26546816
MIRT731623	hsa-miR-134-5p	Immunoblot, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	26546816
MIRT781542	hsa-miR-1304	CLIP-seq
MIRT781543	hsa-miR-134	CLIP-seq
MIRT781544	hsa-miR-3118	CLIP-seq
MIRT781545	hsa-miR-3136-5p	CLIP-seq
MIRT781546	hsa-miR-3164	CLIP-seq
MIRT781547	hsa-miR-4439	CLIP-seq
MIRT781548	hsa-miR-4501	CLIP-seq
MIRT781549	hsa-miR-4513	CLIP-seq
MIRT781550	hsa-miR-4704-3p	CLIP-seq
MIRT781551	hsa-miR-622	CLIP-seq
MIRT781552	hsa-miR-3649	CLIP-seq
MIRT781553	hsa-miR-661	CLIP-seq
MIRT2474072	hsa-miR-1184	CLIP-seq
MIRT2474073	hsa-miR-127-5p	CLIP-seq
MIRT781542	hsa-miR-1304	CLIP-seq
MIRT2474074	hsa-miR-133a	CLIP-seq
MIRT2474075	hsa-miR-133b	CLIP-seq
MIRT2474076	hsa-miR-149	CLIP-seq
MIRT2474077	hsa-miR-3064-5p	CLIP-seq
MIRT2474078	hsa-miR-3545-5p	CLIP-seq
MIRT2474079	hsa-miR-3652	CLIP-seq
MIRT2474080	hsa-miR-3677-3p	CLIP-seq
MIRT2474081	hsa-miR-3921	CLIP-seq
MIRT2474082	hsa-miR-4281	CLIP-seq
MIRT2474083	hsa-miR-4292	CLIP-seq
MIRT2474084	hsa-miR-4303	CLIP-seq
MIRT2474085	hsa-miR-4308	CLIP-seq
MIRT2474086	hsa-miR-4430	CLIP-seq
MIRT2474087	hsa-miR-4435	CLIP-seq
MIRT2474088	hsa-miR-4505	CLIP-seq
MIRT2474089	hsa-miR-4653-5p	CLIP-seq
MIRT2474090	hsa-miR-4682	CLIP-seq
MIRT2474091	hsa-miR-4749-3p	CLIP-seq
MIRT2474092	hsa-miR-4794	CLIP-seq
MIRT2474093	hsa-miR-518d-5p	CLIP-seq
MIRT2474094	hsa-miR-519b-5p	CLIP-seq
MIRT2474095	hsa-miR-519c-5p	CLIP-seq
MIRT2474096	hsa-miR-520c-5p	CLIP-seq
MIRT2474097	hsa-miR-526a	CLIP-seq
MIRT781551	hsa-miR-622	CLIP-seq
MIRT2474098	hsa-miR-642a	CLIP-seq
MIRT2474073	hsa-miR-127-5p	CLIP-seq
MIRT781542	hsa-miR-1304	CLIP-seq
MIRT2474074	hsa-miR-133a	CLIP-seq
MIRT2474075	hsa-miR-133b	CLIP-seq
MIRT2474076	hsa-miR-149	CLIP-seq
MIRT2474077	hsa-miR-3064-5p	CLIP-seq
MIRT2474078	hsa-miR-3545-5p	CLIP-seq
MIRT2474079	hsa-miR-3652	CLIP-seq
MIRT2474081	hsa-miR-3921	CLIP-seq
MIRT2474082	hsa-miR-4281	CLIP-seq
MIRT2474083	hsa-miR-4292	CLIP-seq
MIRT2474085	hsa-miR-4308	CLIP-seq
MIRT2474086	hsa-miR-4430	CLIP-seq
MIRT2474087	hsa-miR-4435	CLIP-seq
MIRT2474088	hsa-miR-4505	CLIP-seq
MIRT2474089	hsa-miR-4653-5p	CLIP-seq
MIRT2474090	hsa-miR-4682	CLIP-seq
MIRT2474091	hsa-miR-4749-3p	CLIP-seq
MIRT2474092	hsa-miR-4794	CLIP-seq
MIRT2474093	hsa-miR-518d-5p	CLIP-seq
MIRT2474094	hsa-miR-519b-5p	CLIP-seq
MIRT2474095	hsa-miR-519c-5p	CLIP-seq
MIRT2474096	hsa-miR-520c-5p	CLIP-seq
MIRT2474097	hsa-miR-526a	CLIP-seq
MIRT781551	hsa-miR-622	CLIP-seq
MIRT2474098	hsa-miR-642a	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PPARA	Activation	12099716;15190076
PPARD	Repression	15190076
PPARG	Activation	15190076
PPARG	Unknown	14570927
SMAD3	Activation	24330518

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001666	Process	Response to hypoxia	NAS	12707035
GO:0004857	Function	Enzyme inhibitor activity	IBA	21873635
GO:0004857	Function	Enzyme inhibitor activity	ISS
GO:0005102	Function	Signaling receptor binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	21397862
GO:0005576	Component	Extracellular region	IDA	10698685
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	10698685
GO:0006629	Process	Lipid metabolic process	IEA
GO:0019216	Process	Regulation of lipid metabolic process	TAS
GO:0042802	Function	Identical protein binding	IPI	19028676
GO:0043066	Process	Negative regulation of apoptotic process	IDA	10698685
GO:0043335	Process	Protein unfolding	IDA	29899144
GO:0045766	Process	Positive regulation of angiogenesis	TAS	11953136
GO:0051005	Process	Negative regulation of lipoprotein lipase activity	IDA	19542565, 29899144
GO:0062023	Component	Collagen-containing extracellular matrix	IBA	21873635
GO:0070328	Process	Triglyceride homeostasis	IBA	21873635
GO:0070328	Process	Triglyceride homeostasis	ISS
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IEA

Other IDs

• MIM: 605910
• HGNC: 16039
• e!Ensembl: ENSG00000167772

Protein

• UniProt ID: Q9BY76
• Protein name: Angiopoietin-related protein 4 (Angiopoietin-like protein 4) (Hepatic fibrinogen/angiopoietin-related protein) (HFARP) [Cleaved into: ANGPTL4 N-terminal chain; ANGPTL4 C-terminal chain]
• Protein function: Mediates inactivation of the lipoprotein lipase LPL, and thereby plays a role in the regulation of triglyceride clearance from the blood serum and in lipid metabolism (PubMed:19270337, PubMed:21398697, PubMed:27929370, PubMed:29899144). May also
• PDB: 6EUB, 6U0A, 6U1U, 6U73
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00147	Fibrinogen_C	184 → 400	Fibrinogen beta and gamma chains, C-terminal globular domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in blood plasma (at protein level) (PubMed:29899519). Detected in liver (PubMed:10698685). Detected in white fat tissue and placenta (PubMed:10866690). Expressed at high levels in the placenta, heart, liver, muscle, pancreas a
• Sequence:

  MSGAPTAGAALMLCAATAVLLSAQGGPVQSKSPRFASWDEMNVLAHGLLQLGQGLREHAE
  RTRSQLSALERRLSACGSACQGTEGSTDLPLAPESRVDPEVLHSLQTQLKAQNSRIQQLF
  HKVAQQQRHLEKQHLRIQHLQSQFGLLDHKHLDHEVAKPARRKRLPEMAQPVDPAHNVSR
  LHRLPRDCQELFQVGERQSGLFEIQPQGSPPFLVNCKMTSDGGWTVIQRRHDGSVDFNRP
  WEAYKAGFGDPHGEFWLGLEKVHSITGDRNSRLAVQLRDWDGNAELLQFSVHLGGEDTAY
  SLQLTAPVAGQLGATTVPPSGLSVPFSTWDQDHDLRRDKNCAKSLSGGWWFGTCSHSNLN
  GQYFRSIPQQRQKLKKGIFWKTWRGRYYPLQATTMLIQPMAAEAAS

• Sequence length: 406

Pathways

KEGG:

PPAR signaling pathway
Cholesterol metabolism

Reactome:

PPARA activates gene expression
Transcriptional regulation of white adipocyte differentiation
Assembly of active LPL and LIPC lipase complexes

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	21489049
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	21489049
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	21489049
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	29212778, 27135400, 28714975
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	21489049
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829	28842503

Unknown
Disease term	Disease name	Evidence	References	Source
Metabolic Syndrome	Metabolic Syndrome			GWAS
Myocardial Infarction	Myocardial Infarction			GWAS
Hyperlipidemia	Hyperlipidemia			GWAS
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	31847905, 32019546, 34323652, 35833114, 36793937, 37938151
Adenocarcinoma Papillary	Stimulate	20664963
Anemia Sickle Cell	Associate	28832635
Anorexia Nervosa	Inhibit	29695708
Aortic Aneurysm Abdominal	Associate	29191809, 40008516
Arthritis Rheumatoid	Associate	22866899, 25289668, 34876931
Ataxia Telangiectasia	Stimulate	32410376
Atherosclerosis	Associate	18940399
Bone Diseases	Associate	27519972
Bone Resorption	Associate	25289668
Brain Ischemia	Associate	12707035, 26039997
Breast Neoplasms	Associate	24641868, 34685578
Breast Neoplasms	Stimulate	26745120
Calcinosis Cutis	Stimulate	37169211
Carcinogenesis	Associate	20660728, 31963541
Carcinoma Hepatocellular	Associate	28230858, 30837223
Carcinoma Hepatocellular	Stimulate	34360721
Carcinoma Non Small Cell Lung	Associate	36050447
Carcinoma Renal Cell	Associate	12707035, 20454689, 30272265
Carcinosarcoma	Associate	32899312
Cardiovascular Abnormalities	Associate	35205232
Cardiovascular Diseases	Associate	27004807, 30779729
Carotid Artery Diseases	Associate	18940399
Cartilage Diseases	Associate	18634015
Cerebral Infarction	Associate	33750331
Cholangiocarcinoma	Stimulate	35392474
Cholangiocarcinoma	Associate	35732325
Colorectal Neoplasms	Associate	24180698, 32641980, 36553482, 37090726
Communication Disorders	Associate	37821811
Coronary Artery Disease	Associate	26934567, 27135400, 29083408, 29713054, 32440963
Coronary Disease	Associate	18940399, 26934567, 30326043
Coronary Disease	Stimulate	33351885
Demyelinating Diseases	Inhibit	31130950
Diabetes Mellitus	Inhibit	20855567
Diabetes Mellitus	Stimulate	26039997
Diabetes Mellitus	Associate	30779729, 34876931
Diabetes Mellitus Type 2	Associate	27004807, 29083408, 29695708, 30275531, 30326043, 33351885, 33909604, 39176085
Diabetes Mellitus Type 2	Stimulate	27733177, 29490644
Diabetes Mellitus Type 2	Inhibit	33003532
Diabetic Retinopathy	Associate	23387337, 33683746
Duane Retraction Syndrome	Associate	37781924
Dyskinesias	Stimulate	37169211
Dyslipidemias	Associate	32641980
Ectrodactyly	Associate	32269565
Esophageal Neoplasms	Associate	37688629
Esophageal Squamous Cell Carcinoma	Associate	23925665
Fetal Growth Retardation	Inhibit	32114885
Fibrocartilaginous embolism	Associate	34876931
Fibrosis	Associate	34360721
Glomerulosclerosis Focal Segmental	Associate	39776814
Glucose Metabolism Disorders	Associate	33003532
Hemangioblastoma	Associate	20454689
Hepatitis C	Associate	34360721
Hyperinsulinism	Associate	22471940
Hyperlipoproteinemia Type II	Associate	33028190
Hypertension	Associate	29490644, 33593372, 35205232
Hypoxia	Stimulate	12707035, 17609976, 18634015, 24180698, 27612459, 29739381, 31963541, 32796743, 36050447, 37264956
Hypoxia	Associate	20454689, 22866899, 24114211, 25889814, 26205780, 31862408, 32114885, 34526760, 34853621, 38016947, 39328420
Hypoxia Brain	Associate	17049073, 24114211
Hypoxia Brain	Stimulate	20667978, 36050447
Hypoxia Brain	Inhibit	39972951
IgA Vasculitis	Associate	25289668
Inflammation	Associate	24039874, 26092770, 26745120, 26813452, 33351885, 33683746, 34077506, 35732325
Inflammation	Stimulate	33003532
Inflammation	Inhibit	39972951
Insulin Resistance	Associate	32816872
Intervertebral Disc Degeneration	Associate	34876931
Intracranial Arteriosclerosis	Associate	33750331
Intracranial Arteriovenous Malformations	Associate	21212665
Intracranial Hemorrhages	Associate	29932521
Ischemia	Associate	12707035
Ischemia	Stimulate	32796743
Ischemic Stroke	Stimulate	39972951
Joint Diseases	Associate	18634015
Lipid Metabolism Disorders	Associate	32440963
Lung Neoplasms	Associate	18950674, 36050447
Lung Neoplasms	Stimulate	31963541
Lymphatic Metastasis	Associate	20664963, 36793937
Lymphatic Metastasis	Stimulate	23925665, 35392474, 35732325
Malaria	Associate	37788095
Malaria Cerebral	Associate	37788095
Melanoma	Associate	33139674, 33196458
Metabolic Diseases	Associate	12707035
Metabolic Syndrome	Stimulate	24626437
Metabolic Syndrome	Associate	27004807, 29695708, 31164103, 33593372
Mucocutaneous Lymph Node Syndrome	Associate	34434074
Multiple Myeloma	Associate	27519972
Multiple Sclerosis	Inhibit	31130950
Myocardial Infarction	Associate	26934567
Neoplasm Invasiveness	Stimulate	20664963
Neoplasm Invasiveness	Associate	35392474
Neoplasm Metastasis	Associate	27797381, 29739381, 31847905, 31963541, 32641980, 32928141, 35732325, 35833114, 37169211
Neoplasm Metastasis	Stimulate	37291514
Neoplasms	Associate	20664963, 23208498, 23925665, 26205780, 29739381, 30837223, 32641980, 32928141, 35732325, 35833114, 37169211, 37291514
Neoplasms Adipose Tissue	Associate	21596930
Nephrotic Syndrome	Associate	39776814
Obesity	Inhibit	21596930
Obesity	Associate	25244256, 27004807, 27733177, 33003532
Obesity	Stimulate	29695708
Orofacial Cleft 1	Associate	30254216
Osteoarthritis	Associate	39176085, 39587568
Osteoporosis	Associate	34876931
Osteosarcoma	Associate	29739381
Ovarian Neoplasms	Associate	26205780, 31641008, 34609082
Pancreatic Neoplasms	Associate	20454689, 27282075, 37291514
Peripheral Arterial Disease	Associate	18940399
Pheochromocytoma	Associate	20454689
Placenta Diseases	Associate	32114885
Pneumonia	Associate	37821811
Pneumonia Lipid	Associate	35269515
Polycystic Ovary Syndrome	Associate	35140683
Pre Eclampsia	Associate	28933788
Preeclamptic toxemia	Inhibit	28933788
Proteinuria	Associate	32280690
Pulmonary Disease Chronic Obstructive	Stimulate	26813452
Pulmonary edema of mountaineers	Associate	39328420
Retinal Diseases	Associate	28832635
Rupture	Associate	29191809
Sarcoma Kaposi	Associate	20660728, 21421336
Squamous Cell Carcinoma of Head and Neck	Associate	27797381, 37169211
Stomach Neoplasms	Associate	20664963, 32410376, 34708125
Stroke	Associate	18940399, 32980981
Telangiectasia Hereditary Hemorrhagic	Associate	37689549
Tooth Resorption	Stimulate	25289668
Triple Negative Breast Neoplasms	Associate	32928141
Uterine Cervical Neoplasms	Associate	33228592, 35178306
Weight Gain	Associate	33593372
Weight Loss	Associate	21714923
Xeroderma Pigmentosum	Associate	21421336