CLU (clusterin)

Gene

• Entrez ID: 1191
• Gene name: Clusterin
• Gene symbol: CLU
• Synonyms (NCBI Gene): AAG4, APO-J, APOJ, CLI, CLU1, CLU2, KUB1, NA1/NA2, SGP-2, SGP2, SP-40, TRPM-2, TRPM2
• Chromosome: 8
• Chromosome location: 8p21.1
• Summary: The protein encoded by this gene is a secreted chaperone that can under some stress conditions also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegen

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT040971	hsa-miR-18a-3p	CLASH	23622248
MIRT039321	hsa-miR-425-5p	CLASH	23622248
MIRT437882	hsa-miR-17-5p	Immunohistochemistry, qRT-PCR, Western blot	23436804
MIRT438224	hsa-miR-21-5p	Luciferase reporter assay	24327270
MIRT438224	hsa-miR-21-5p	Luciferase reporter assay	24327270
MIRT732481	hsa-miR-217	Luciferase reporter assay, qRT-PCR, Western blotting	33993322
MIRT898248	hsa-miR-15a	CLIP-seq
MIRT898249	hsa-miR-15b	CLIP-seq
MIRT898250	hsa-miR-16	CLIP-seq
MIRT898251	hsa-miR-195	CLIP-seq
MIRT898252	hsa-miR-2053	CLIP-seq
MIRT898253	hsa-miR-2116	CLIP-seq
MIRT898254	hsa-miR-3123	CLIP-seq
MIRT898255	hsa-miR-361-5p	CLIP-seq
MIRT898256	hsa-miR-3919	CLIP-seq
MIRT898257	hsa-miR-424	CLIP-seq
MIRT898258	hsa-miR-4468	CLIP-seq
MIRT898259	hsa-miR-4652-3p	CLIP-seq
MIRT898260	hsa-miR-4677-5p	CLIP-seq
MIRT898261	hsa-miR-4756-3p	CLIP-seq
MIRT898262	hsa-miR-4778-5p	CLIP-seq
MIRT898263	hsa-miR-497	CLIP-seq
MIRT898264	hsa-miR-569	CLIP-seq
MIRT898265	hsa-miR-1184	CLIP-seq
MIRT898266	hsa-miR-1301	CLIP-seq
MIRT898248	hsa-miR-15a	CLIP-seq
MIRT898249	hsa-miR-15b	CLIP-seq
MIRT898250	hsa-miR-16	CLIP-seq
MIRT898251	hsa-miR-195	CLIP-seq
MIRT898252	hsa-miR-2053	CLIP-seq
MIRT898253	hsa-miR-2116	CLIP-seq
MIRT898254	hsa-miR-3123	CLIP-seq
MIRT898255	hsa-miR-361-5p	CLIP-seq
MIRT898256	hsa-miR-3919	CLIP-seq
MIRT898267	hsa-miR-409-5p	CLIP-seq
MIRT898257	hsa-miR-424	CLIP-seq
MIRT898268	hsa-miR-4418	CLIP-seq
MIRT898258	hsa-miR-4468	CLIP-seq
MIRT898259	hsa-miR-4652-3p	CLIP-seq
MIRT898269	hsa-miR-4660	CLIP-seq
MIRT898270	hsa-miR-4667-5p	CLIP-seq
MIRT898260	hsa-miR-4677-5p	CLIP-seq
MIRT898271	hsa-miR-4690-3p	CLIP-seq
MIRT898272	hsa-miR-4700-5p	CLIP-seq
MIRT898261	hsa-miR-4756-3p	CLIP-seq
MIRT898262	hsa-miR-4778-5p	CLIP-seq
MIRT898263	hsa-miR-497	CLIP-seq
MIRT898273	hsa-miR-5047	CLIP-seq
MIRT898274	hsa-miR-509-3-5p	CLIP-seq
MIRT898275	hsa-miR-509-5p	CLIP-seq
MIRT898264	hsa-miR-569	CLIP-seq
MIRT898276	hsa-miR-637	CLIP-seq
MIRT898265	hsa-miR-1184	CLIP-seq
MIRT898266	hsa-miR-1301	CLIP-seq
MIRT898248	hsa-miR-15a	CLIP-seq
MIRT898249	hsa-miR-15b	CLIP-seq
MIRT898250	hsa-miR-16	CLIP-seq
MIRT898251	hsa-miR-195	CLIP-seq
MIRT898253	hsa-miR-2116	CLIP-seq
MIRT898267	hsa-miR-409-5p	CLIP-seq
MIRT898257	hsa-miR-424	CLIP-seq
MIRT898258	hsa-miR-4468	CLIP-seq
MIRT898259	hsa-miR-4652-3p	CLIP-seq
MIRT898269	hsa-miR-4660	CLIP-seq
MIRT898270	hsa-miR-4667-5p	CLIP-seq
MIRT898260	hsa-miR-4677-5p	CLIP-seq
MIRT898272	hsa-miR-4700-5p	CLIP-seq
MIRT1966363	hsa-miR-4701-5p	CLIP-seq
MIRT898262	hsa-miR-4778-5p	CLIP-seq
MIRT898263	hsa-miR-497	CLIP-seq
MIRT898273	hsa-miR-5047	CLIP-seq
MIRT1966364	hsa-miR-588	CLIP-seq
MIRT898276	hsa-miR-637	CLIP-seq
MIRT2202226	hsa-miR-1245b-3p	CLIP-seq
MIRT898248	hsa-miR-15a	CLIP-seq
MIRT898249	hsa-miR-15b	CLIP-seq
MIRT898250	hsa-miR-16	CLIP-seq
MIRT898251	hsa-miR-195	CLIP-seq
MIRT898257	hsa-miR-424	CLIP-seq
MIRT2202227	hsa-miR-4330	CLIP-seq
MIRT2202228	hsa-miR-4452	CLIP-seq
MIRT898263	hsa-miR-497	CLIP-seq
MIRT898248	hsa-miR-15a	CLIP-seq
MIRT898249	hsa-miR-15b	CLIP-seq
MIRT898250	hsa-miR-16	CLIP-seq
MIRT898251	hsa-miR-195	CLIP-seq
MIRT898253	hsa-miR-2116	CLIP-seq
MIRT898267	hsa-miR-409-5p	CLIP-seq
MIRT898257	hsa-miR-424	CLIP-seq
MIRT2505118	hsa-miR-4328	CLIP-seq
MIRT2202228	hsa-miR-4452	CLIP-seq
MIRT898258	hsa-miR-4468	CLIP-seq
MIRT898259	hsa-miR-4652-3p	CLIP-seq
MIRT898260	hsa-miR-4677-5p	CLIP-seq
MIRT898262	hsa-miR-4778-5p	CLIP-seq
MIRT898263	hsa-miR-497	CLIP-seq
MIRT2505119	hsa-miR-520d-5p	CLIP-seq
MIRT2505120	hsa-miR-524-5p	CLIP-seq
MIRT2505121	hsa-miR-548a-3p	CLIP-seq
MIRT2505122	hsa-miR-548e	CLIP-seq
MIRT2505123	hsa-miR-548f	CLIP-seq
MIRT2505124	hsa-miR-600	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOS	Repression	10406964
FOSL1	Unknown	10406964
FOSL2	Unknown	10406964
JUNB	Unknown	10406964
JUND	Unknown	10406964
MYCN	Repression	23362253

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IDA	15857407
GO:0001540	Function	Amyloid-beta binding	IDA	22179788
GO:0001540	Function	Amyloid-beta binding	IPI	9228033, 23106396
GO:0001774	Process	Microglial cell activation	IDA	15857407
GO:0001836	Process	Release of cytochrome c from mitochondria	IC	16113678
GO:0002434	Process	Immune complex clearance	ISS
GO:0002576	Process	Platelet degranulation	TAS
GO:0005102	Function	Signaling receptor binding	IPI	27477018
GO:0005515	Function	Protein binding	IPI	8555189, 16113678, 17043677, 17170699, 17567961, 20195357, 22179788, 22528093, 22689054, 25051234, 25451228, 26496610, 28887769, 31270237, 31413325, 32814053
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	TAS	23164821
GO:0005615	Component	Extracellular space	HDA	16502470, 20551380
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	11123922, 16113678, 17567961, 19996109
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	19137541, 25051234
GO:0005737	Component	Cytoplasm	IDA	9560017, 17689225, 22689054, 25051234
GO:0005737	Component	Cytoplasm	TAS	23164821
GO:0005739	Component	Mitochondrion	IDA	16113678, 22689054
GO:0005743	Component	Mitochondrial inner membrane	IDA	17689225
GO:0005794	Component	Golgi apparatus	ISS
GO:0005829	Component	Cytosol	IDA	22689054
GO:0005856	Component	Cytoskeleton	IDA	25051234
GO:0006629	Process	Lipid metabolic process	NAS	2387851
GO:0006956	Process	Complement activation	TAS	1585460
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0009615	Process	Response to virus	IEP	16548883
GO:0009986	Component	Cell surface	IDA	17567961
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016020	Component	Membrane	IDA	25051234
GO:0016887	Function	ATPase activity	IDA	11123922
GO:0017038	Process	Protein import	IDA	24446231
GO:0019730	Process	Antimicrobial humoral response	TAS
GO:0030449	Process	Regulation of complement activation	TAS
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IDA	22179788, 23106396
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IMP	16113678
GO:0031334	Process	Positive regulation of protein-containing complex assembly	IDA	22179788
GO:0031625	Function	Ubiquitin protein ligase binding	IDA	20068069
GO:0032286	Process	Central nervous system myelin maintenance	IMP	21543606
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	20068069
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IDA	15857407
GO:0032991	Component	Protein-containing complex	IDA	9228033, 17567961
GO:0034366	Component	Spherical high-density lipoprotein particle	IDA	16682745
GO:0042127	Process	Regulation of cell population proliferation	IMP	19137541
GO:0042583	Component	Chromaffin granule	IEA
GO:0042981	Process	Regulation of apoptotic process	IBA	21873635
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	22689054
GO:0043691	Process	Reverse cholesterol transport	TAS	16682745
GO:0044877	Function	Protein-containing complex binding	IPI	22179788, 23106396
GO:0045087	Process	Innate immune response	IEA
GO:0045202	Component	Synapse	IEA
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IDA	15857407
GO:0048156	Function	Tau protein binding	IPI	25051234
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	IGI	9228033
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	20068069
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IPI	9228033
GO:0050821	Process	Protein stabilization	IDA	11123922, 12176985
GO:0051082	Function	Unfolded protein binding	IMP	25402950
GO:0051087	Function	Chaperone binding	ISS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	20068069
GO:0051131	Process	Chaperone-mediated protein complex assembly	IDA	17412999
GO:0051787	Function	Misfolded protein binding	IBA	21873635
GO:0051787	Function	Misfolded protein binding	IDA	11123922
GO:0051787	Function	Misfolded protein binding	IPI	19996109
GO:0051788	Process	Response to misfolded protein	IDA	19996109
GO:0060548	Process	Negative regulation of cell death	IMP	21803450
GO:0060548	Process	Negative regulation of cell death	TAS	23164821
GO:0061077	Process	Chaperone-mediated protein folding	IDA	11123922
GO:0061518	Process	Microglial cell proliferation	IDA	15857407
GO:0061740	Process	Protein targeting to lysosome involved in chaperone-mediated autophagy	IC	9228033
GO:0061741	Process	Chaperone-mediated protein transport involved in chaperone-mediated autophagy	IC	9228033
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	23658023, 27559042
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0071944	Component	Cell periphery	IDA	21803450
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0090201	Process	Negative regulation of release of cytochrome c from mitochondria	TAS	21803450
GO:0097418	Component	Neurofibrillary tangle	IDA	9560017, 15897157
GO:0097440	Component	Apical dendrite	IDA	9560017
GO:0099020	Component	Perinuclear endoplasmic reticulum lumen	IDA	22689054
GO:1900221	Process	Regulation of amyloid-beta clearance	IDA	24446231
GO:1901214	Process	Regulation of neuron death	IDA	17412999
GO:1901214	Process	Regulation of neuron death	IMP	9560017
GO:1901216	Process	Positive regulation of neuron death	IDA	15857407
GO:1901216	Process	Positive regulation of neuron death	IMP	15897157
GO:1901216	Process	Positive regulation of neuron death	ISS
GO:1902004	Process	Positive regulation of amyloid-beta formation	ISS
GO:1902230	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IMP	16113678
GO:1902430	Process	Negative regulation of amyloid-beta formation	IDA	12047389, 17412999
GO:1902847	Process	Regulation of neuronal signal transduction	IMP	21397462
GO:1902949	Process	Positive regulation of tau-protein kinase activity	IMP	15897157
GO:1902998	Process	Positive regulation of neurofibrillary tangle assembly	IMP	15897157
GO:1903573	Process	Negative regulation of response to endoplasmic reticulum stress	IMP	21803450
GO:1905892	Process	Negative regulation of cellular response to thapsigargin	IMP	21803450
GO:1905895	Process	Negative regulation of cellular response to tunicamycin	IMP	21803450
GO:1905907	Process	Negative regulation of amyloid fibril formation	IDA	22179788
GO:1905907	Process	Negative regulation of amyloid fibril formation	TAS	9228033, 23106396
GO:1905908	Process	Positive regulation of amyloid fibril formation	TAS	20005821
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IMP	20068069

Other IDs

• MIM: 185430
• HGNC: 2095
• e!Ensembl: ENSG00000120885

Protein

• UniProt ID: P10909
• Protein name: Clusterin (Aging-associated gene 4 protein) (Apolipoprotein J) (Apo-J) (Complement cytolysis inhibitor) (CLI) (Complement-associated protein SP-40,40) (Ku70-binding protein 1) (NA1/NA2) (Sulfated glycoprotein 2) (SGP-2) (Testosterone-repressed prostate me
• Protein function: [Isoform 1]: Functions as extracellular chaperone that prevents aggregation of non native proteins (PubMed:11123922, PubMed:19535339). Prevents stress-induced aggregation of blood plasma proteins (PubMed:11123922, PubMed:12176985, PubMed:1726097
• PDB: 7ZET, 7ZEU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01093	Clusterin	30 → 447	Clusterin	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in blood plasma, cerebrospinal fluid, milk, seminal plasma and colon mucosa. Detected in the germinal center of colon lymphoid nodules and in colon parasympathetic ganglia of the Auerbach plexus (at protein level). Ubiquitous.
• Sequence:

  MMKTLLLFVGLLLTWESGQVLGDQTVSDNELQEMSNQGSKYVNKEIQNAVNGVKQIKTLI
  EKTNEERKTLLSNLEEAKKKKEDALNETRESETKLKELPGVCNETMMALWEECKPCLKQT
  CMKFYARVCRSGSGLVGRQLEEFLNQSSPFYFWMNGDRIDSLLENDRQQTHMLDVMQDHF
  SRASSIIDELFQDRFFTREPQDTYHYLPFSLPHRRPHFFFPKSRIVRSLMPFSPYEPLNF
  HAMFQPFLEMIHEAQQAMDIHFHSPAFQHPPTEFIREGDDDRTVCREIRHNSTGCLRMKD
  QCDKCREILSVDCSTNNPSQAKLRRELDESLQVAERLTRKYNELLKSYQWKMLNTSSLLE
  QLNEQFNWVSRLANLTQGEDQYYLRVTTVASHTSDSDVPSGVTEVVVKLFDSDPITVTVP
  VEVSRKNPKFMETVAEKALQEYRKKHREE

• Sequence length: 449

Pathways

KEGG:

Complement and coagulation cascades

Reactome:

Platelet degranulation
Terminal pathway of complement
Antimicrobial peptides
Regulation of Complement cascade

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Alzheimer disease	Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	19734903, 21460841, 19734902, 30617256, 31473137, 30805717, 24162737, 29777097, 25778476
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Familial	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	11796754
Arthritis	Degenerative polyarthritis, Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	18784066, 17568789, 19565504
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	24863737, 21258088, 21593213
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	11796754
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	15955107
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17148459
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	20738160
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130	23266720

Unknown
Disease term	Disease name	Evidence	References	Source
Panic Disorder	Panic Disorder			GWAS
Dementia	Dementia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Inhibit	17407782
AA amyloidosis	Associate	22155582, 24806679, 35008745
Abnormalities Drug Induced	Associate	33299887
Acute Kidney Injury	Associate	28640195
Adenocarcinoma	Associate	19903339
Adenocarcinoma of Lung	Stimulate	28954633
Adenocarcinoma of Lung	Associate	31854219, 34001209, 35291954
Adrenocortical Adenoma	Associate	40190189
Alcoholism	Associate	37350760
Alzheimer Disease	Associate	10666378, 15912881, 1924317, 19734902, 19734903, 20209083, 20534741, 20554627, 20697030, 20739100, 21220176, 21347408, 21379329, 21447104, 21543606, 21824521, 21912625, 22015308, 22046305, 22159129, 22179788, 22248099, 22506010, 22508715, 22539578, 22701550, 22795969, 22906254, 22952074, 23360175, 23419238, 23573206, 23643458, 23805218, 23954108, 24023061, 24244428, 24670887, 24743338, 24806679, 24967550, 25189118, 25402950, 25723573, 25778476, 26179372, 26243271, 26510741, 26545630, 26625115, 26680604, 26738351, 26976043, 27017968, 27143425, 27229352, 27396407, 27482534, 27781389, 28025282, 28084078, 28199971, 28233427, 29324756, 29860944, 30967152, 31664702, 32555747, 32709662, 32986668, 32991610, 32992916, 33003328, 33152068, 33804666, 34092785, 34650147, 34752346, 34767070, 35307406, 35436980, 35640139, 35811524, 36181103, 36291126, 36329114, 36411364, 36550123, 36951251, 37047762, 37480051, 37494190, 37611586, 37658429, 38233149, 38241287, 40631452
Alzheimer Disease	Stimulate	23226438, 27248362
Amyloidosis Hereditary Transthyretin Related	Associate	25478940, 26147092
Amyotrophic Lateral Sclerosis	Stimulate	31386770
Androgen Insensitivity Syndrome	Associate	34867780
Aortic Valve Stenosis	Associate	23704777
Arthritis Psoriatic	Associate	37033956, 39684771
Arthritis Rheumatoid	Associate	39684771
Ascites	Associate	27500424
Asthma	Associate	30876376
Atherosclerosis	Associate	18712185, 23704777, 25402950
Atherosclerosis	Stimulate	24758255
Atrial Fibrillation	Associate	32389013
Atrophy	Associate	24670887
beta Thalassemia	Stimulate	33715293
beta Thalassemia	Associate	39676317
Bites and Stings	Associate	19220628
Brain Diseases	Associate	19734903
Breast Neoplasms	Associate	10823943, 17121433, 17689225, 18078515, 18813793, 19846927, 20920219, 37268731
Breast Neoplasms	Stimulate	10934144, 14755245, 22106898
Breast Neoplasms	Inhibit	28076321
Breast Neoplasms Male	Associate	30850364
Brugada Syndrome	Stimulate	23276942
Cap Myopathy	Associate	18974881
Carcinogenesis	Associate	14755245, 15929184, 19118032, 20028970, 22185350, 25574066, 26916071, 37686218
Carcinoma	Associate	15467709
Carcinoma Hepatocellular	Associate	22272636, 22949882, 24614035, 25600802, 26264614, 32039450, 32059741, 33054843, 34290294, 34837478, 36482717
Carcinoma in Situ	Stimulate	19846927
Carcinoma in Situ	Inhibit	26916071
Carcinoma Intraductal Noninfiltrating	Stimulate	10934144
Carcinoma Non Small Cell Lung	Associate	28954633
Carcinoma Ovarian Epithelial	Associate	19550125, 19709441, 30917846
Carcinoma Pancreatic Ductal	Associate	36694355
Carcinoma Papillary	Associate	25934174
Carcinoma Renal Cell	Associate	18079682, 8196285, 8263017
Carcinoma Squamous Cell	Stimulate	24814677
Carcinoma Squamous Cell	Inhibit	26916071, 28954633
Carcinoma Transitional Cell	Associate	19757199
Cardiomyopathy Dilated	Associate	29540862
Cardiomyopathy Hypertrophic	Inhibit	32516132
Cardiovascular Diseases	Associate	35439851
Carotid Artery Diseases	Associate	24758255
Cartilage Diseases	Inhibit	11795992
Castleman Disease	Associate	34686774
Cerebral Amyloid Angiopathy	Associate	27248362, 29860944, 36181103
Cerebral Amyloid Angiopathy	Stimulate	27543695
Cerebral Hemorrhage	Associate	36181103
Chondrosarcoma	Inhibit	30206409
Chorea remitting with nystagmus and cataracts	Associate	28233427
Cognition Disorders	Associate	21824521, 22952074, 24244428, 24768341, 31386770
Cognitive Dysfunction	Associate	21824521, 25189118, 26503441, 26976043, 28025282, 28233427, 30149449, 34752346
Cognitive Dysfunction	Inhibit	36472389
Colonic Neoplasms	Associate	14755245
Colorectal Neoplasms	Associate	14508108, 15929184, 16854844, 17322305, 19177010, 25884309, 25917404, 29279586, 32023884, 36267311, 37024866
Colorectal Neoplasms	Stimulate	26537064
Coronary Artery Disease	Associate	24758255
Coronary Disease	Associate	18712185, 35439851
Coronary Stenosis	Associate	18712185
Crohn Disease	Stimulate	25250685
Cystic Disease Of Lung	Associate	8196285
Cystinosis	Associate	25071085
Cysts	Associate	8196285
Death	Associate	8113419
Dementia	Associate	21297263, 22701550, 24806679, 36951251, 37328865
Dendritic Cell Sarcoma Follicular	Associate	15467709
Depressive Disorder	Associate	23209684, 28233427
dhat syndrome	Inhibit	36291126
Diabetes Mellitus Type 1	Associate	18092746
Diabetes Mellitus Type 2	Stimulate	27070750
Diabetes Mellitus Type 2	Associate	32235466
Diabetic Nephropathies	Stimulate	32913257
Diabetic Nephropathies	Associate	34124269, 34545296, 35991124
Diabetic Retinopathy	Associate	26665153
Diffuse Neurofibrillary Tangles with Calcification	Associate	10666378, 35729600
Disease	Associate	11795992, 24438528, 30967152, 32882505
Down Syndrome	Associate	10666378, 24438528
Drug Related Side Effects and Adverse Reactions	Associate	14508108, 36329114
Drug Related Side Effects and Adverse Reactions	Inhibit	36291126
Dyslipidemias	Associate	20847305
Emphysema	Stimulate	35191419
Endometrial Neoplasms	Stimulate	17503403
Endometrial Neoplasms	Associate	22211095, 39326337
Esophageal Neoplasms	Associate	15133840
Esophageal Squamous Cell Carcinoma	Associate	15133840, 19793084, 25574066, 36157541
Exfoliation Syndrome	Associate	18806885, 19182256, 36959561
Fibrosarcoma	Associate	15467709
Fuchs' Endothelial Dystrophy	Stimulate	18378577
Fuchs' Endothelial Dystrophy	Associate	19011008, 22234156
Giant Cell Tumor of Tendon Sheath	Associate	29420353
Glioblastoma	Associate	37686218
Glioma	Associate	32597148, 37686218
Glomerulonephritis Membranous	Associate	16775601
Graves Disease	Associate	7518800
Graves Ophthalmopathy	Stimulate	26599235
Gray Platelet Syndrome	Associate	28707765
Hand Foot and Mouth Disease	Associate	25268271
Heart Failure Systolic	Inhibit	36797157
Hemangioblastoma	Inhibit	18079682
Hemangiosarcoma	Associate	15467709
Hemorrhagic Fever with Renal Syndrome	Stimulate	29682100
Hepatitis Alcoholic	Associate	36243044
Hirschsprung Disease	Associate	33683746
HIV Infections	Inhibit	36291126
Hodgkin Disease	Associate	36077307
Hypertension Pregnancy Induced	Stimulate	33874952
Hypoxia	Associate	24599003
Immunoglobulin G4 Related Disease	Associate	34453919
Immunoglobulin Light chain Amyloidosis	Associate	22981431
Infarction	Associate	7752593
Infertility Male	Associate	34341430, 36142505
Inflammation	Associate	20028970, 24516231, 24758255, 24806679, 29717106, 30967152, 32764517, 32917098
Inflammation	Inhibit	32516132, 35439851
Inflammation	Stimulate	33874952
Insulin Resistance	Associate	20847305
Ischemia	Associate	24073260
Keratoconus	Associate	37108600
Kidney Diseases	Associate	25071085, 33715293, 36418822
Kidney Diseases	Stimulate	32913257, 8196285
Laryngeal Neoplasms	Stimulate	16675913
Leiomyosarcoma	Associate	15467709
Leukemia Myeloid Acute	Associate	15345285
Lewy Body Disease	Associate	35729600
Livedoid Vasculopathy	Associate	22701550
Lower Urinary Tract Symptoms	Associate	30560838
Lung Diseases	Inhibit	29382921
Lung Diseases Obstructive	Stimulate	35191419
Lung Neoplasms	Associate	24751980, 28954633, 31622403, 31854219
Lupus Erythematosus Systemic	Associate	15304052
Lymphatic Metastasis	Stimulate	17121433, 32039450
Lymphatic Metastasis	Associate	22799602
Lymphoma Large Cell Anaplastic	Associate	10887098
Lymphomatoid Granulomatosis	Associate	19220628
Lymphoproliferative Disorders	Associate	19220628
Macular Degeneration	Associate	12391305, 17148042, 34406330
Mastocytosis Systemic	Associate	33299887
Meibomian Gland Dysfunction	Associate	29234088
Melanoma	Stimulate	15675962
Melanoma	Associate	16886681, 22157936, 28623268
Melanoma Cutaneous Malignant	Associate	16886681
Memory Disorders	Associate	28233427
Meningioma	Associate	23111736
Mental Disorders	Associate	37350760
Metabolic Diseases	Associate	33804147
Metabolic Syndrome	Stimulate	32764517, 40243895
Microphthalmia Syndromic 10	Inhibit	21824521
Mitochondrial Diseases	Inhibit	19118032
Mouth Diseases	Associate	28707765
Mucopolysaccharidoses	Associate	32366041
Mucopolysaccharidosis IV	Associate	34200496
Multi centric Castleman's Disease	Associate	34686774
Multiple Sclerosis	Stimulate	23762311
Muscular Diseases	Associate	15912881
Mycosis Fungoides	Associate	33299887
Myelodysplastic Syndromes	Associate	35007303
Myocardial Infarction	Stimulate	32389013
Myofibrillar Myopathy	Associate	15912881
Myositis Inclusion Body	Associate	15912881
Nasal Polyps	Inhibit	33506054
Neoplasm Invasiveness	Stimulate	10934144
Neoplasm Invasiveness	Associate	16675913
Neoplasm Metastasis	Associate	10934144, 26264614, 27500424, 28076321, 29279586, 37024866
Neoplasm Metastasis	Stimulate	19846927
Neoplasms	Associate	10934144, 14508108, 14755245, 15133840, 16436671, 16675913, 16854844, 16886681, 17076538, 17121433, 17322305, 17974975, 18079682, 19757199, 19793084, 19903339, 19940549, 20145158, 20501799, 21761117, 21986992, 21987172, 22185350, 22799602, 23770713, 24073260, 24814677, 25402950, 25574066, 25917404, 25934174, 26264614, 27198502, 28076321, 28701735, 29279586, 30002194, 32039450, 32059741, 33299887, 34020271, 34127544, 35291954, 36694355, 37686218, 38125724
Neoplasms	Inhibit	17689225, 23362253, 26916071, 34001209
Neoplasms	Stimulate	21042904
Neoplasms Cystic Mucinous and Serous	Associate	8196285
Neoplasms Glandular and Epithelial	Associate	29420353
Nerve Degeneration	Associate	17148042, 27017968, 30967152, 35456459, 37047762
Neuroblastoma	Associate	21042904
Neurodegenerative Diseases	Associate	17148042, 1924317, 24073260, 24806679, 26179372, 26545630
Neuroendocrine Tumors	Associate	23770713, 29420353
Neuromyelitis Optica	Associate	31708932
Neuronal Ceroid Lipofuscinoses	Associate	35506243
Neurotoxicity Syndromes	Inhibit	21447104
Obesity	Associate	20847305
Osteoarthritis	Stimulate	11795992, 32516132, 40243895
Osteoarthritis	Associate	25287745, 30967152, 32832544, 37033956
Osteoarthritis	Inhibit	29717106, 30053814
Osteoarthritis Hip	Inhibit	31352363
Osteoarthritis Knee	Associate	32917098
Osteopenic Nonfracture Syndrome	Inhibit	36053959
Osteoporosis	Stimulate	30967152
Osteoporosis	Associate	35456459
Osteoporotic Fractures	Associate	30967152, 36053959
Ovarian Diseases	Associate	21761117
Ovarian Neoplasms	Associate	15578711, 18714397, 19487548, 21761117, 22185350, 26293319
Ovarian Neoplasms	Stimulate	23579955
Pain	Inhibit	30053814
Pancreatic Neoplasms	Associate	22799602, 22967941, 36694355
Parkinson Disease	Associate	21912625, 37328865
Parkinson Disease	Stimulate	31593110, 37479568
Periodontal Diseases	Associate	29610270
Periodontitis	Associate	22092770
Pheochromocytoma	Associate	16436671
Pituitary Neoplasms	Associate	26753958
Plaque Amyloid	Associate	19734903, 20207970, 23592924
Polycythemia Vera	Associate	35008095
Pre Eclampsia	Stimulate	22570525, 26522099
Prostatic Hyperplasia	Stimulate	30560838
Prostatic Neoplasms	Associate	15494717, 20068069, 20643827, 21987172, 23418433, 25967040, 27198502, 30305646
Prostatitis	Associate	17974975, 20501799, 24599003, 26469759
Prostatitis	Stimulate	30560838
Psoriasis	Associate	33804147
Pterygium	Associate	19956562
Pulmonary Disease Chronic Obstructive	Associate	35191419
Pulmonary Fibrosis	Inhibit	29382921
Pyruvate Carboxylase Deficiency Disease	Associate	27248362
Recurrence	Associate	36077307
Renal Insufficiency Chronic	Associate	24516231
Retinal Drusen	Associate	12391305, 17148042
Retinal Vein Occlusion	Associate	27362861, 36820679
Retinitis Pigmentosa	Associate	1555655
Rett Syndrome	Associate	20420693
Rhinitis Allergic	Associate	26732727
Sarcopenia	Associate	30967152
Scleroderma Systemic	Associate	31545397
Scoliosis	Associate	21647955
Scrapie	Associate	1924317
Seminoma	Inhibit	24217652
Sick Sinus Syndrome	Stimulate	10934144
Sjogren's Syndrome	Associate	31708932
Soft Tissue Injuries	Associate	10823943
Squamous Cell Carcinoma of Head and Neck	Associate	16675913, 18254958, 24327270
Stroke	Associate	36253534
Synucleinopathies	Associate	15912881
Tarlov Cysts	Associate	22799602
Tertiary Lymphoid Structures	Associate	24814677
Testicular Neoplasms	Associate	24217652
Thyroid Cancer Papillary	Associate	33521130, 34767591
Thyroid Neoplasms	Associate	25934174
Thyroid Nodule	Associate	25934174
Tuberculosis	Associate	21418657
Tuberculosis Multidrug Resistant	Associate	25600802
Urinary Bladder Neoplasms	Stimulate	19757199
Urinary Bladder Neoplasms	Associate	22159600
Uterine Cervical Neoplasms	Associate	20058210, 21633299
Vascular System Injuries	Associate	24758255
Ventricular Fibrillation	Inhibit	36291126
von Hippel Lindau Disease	Associate	18079682
Wilms Tumor	Stimulate	8196285