CLU (clusterin)

Gene

• Entrez ID: 1191
• Gene name: Clusterin
• Gene symbol: CLU
• Synonyms: 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 neurodegenerative disorders. Alternate splicing results in both coding and non-coding variants.[provided by RefSeq, May 2011]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039321	hsa-miR-425-5p	CLASH	23622248
MIRT040971	hsa-miR-18a-3p	CLASH	23622248
MIRT437882	hsa-miR-17-5p	Immunohistochemistry, qRT-PCR, Western blot	23436804
MIRT438224	hsa-miR-21-5p	Luciferase reporter assay	24327270
MIRT736182	hsa-miR-1228-5p	PAR-CLIP	26701625
MIRT736303	hsa-miR-1237-5p	PAR-CLIP	26701625
MIRT736558	hsa-miR-1254	PAR-CLIP	26701625
MIRT736919	hsa-miR-1275	PAR-CLIP	26701625
MIRT737043	hsa-miR-1286	PAR-CLIP	26701625
MIRT737933	hsa-miR-15a-5p	PAR-CLIP	26701625
MIRT737955	hsa-miR-15b-5p	PAR-CLIP	26701625
MIRT737983	hsa-miR-16-5p	PAR-CLIP	26701625
MIRT738622	hsa-miR-195-5p	PAR-CLIP	26701625
MIRT739255	hsa-miR-2467-3p	PAR-CLIP	26701625
MIRT739375	hsa-miR-25-5p	PAR-CLIP	26701625
MIRT739494	hsa-miR-2861	PAR-CLIP	26701625
MIRT739930	hsa-miR-3116	PAR-CLIP	26701625
MIRT740368	hsa-miR-3152-3p	PAR-CLIP	26701625
MIRT740649	hsa-miR-3175	PAR-CLIP	26701625
MIRT740997	hsa-miR-3191-5p	PAR-CLIP	26701625
MIRT741267	hsa-miR-326	PAR-CLIP	26701625
MIRT741325	hsa-miR-330-5p	PAR-CLIP	26701625
MIRT741556	hsa-miR-3612	PAR-CLIP	26701625
MIRT741951	hsa-miR-3659	PAR-CLIP	26701625
MIRT742160	hsa-miR-3678-3p	PAR-CLIP	26701625
MIRT743295	hsa-miR-424-5p	PAR-CLIP	26701625
MIRT743365	hsa-miR-4254	PAR-CLIP	26701625
MIRT743453	hsa-miR-4259	PAR-CLIP	26701625
MIRT744581	hsa-miR-4443	PAR-CLIP	26701625
MIRT745179	hsa-miR-4486	PAR-CLIP	26701625
MIRT745225	hsa-miR-4488	PAR-CLIP	26701625
MIRT745515	hsa-miR-4505	PAR-CLIP	26701625
MIRT746691	hsa-miR-4661-3p	PAR-CLIP	26701625
MIRT746757	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT747229	hsa-miR-4697-5p	PAR-CLIP	26701625
MIRT747327	hsa-miR-4706	PAR-CLIP	26701625
MIRT747586	hsa-miR-4722-5p	PAR-CLIP	26701625
MIRT747931	hsa-miR-4731-5p	PAR-CLIP	26701625
MIRT748308	hsa-miR-4749-5p	PAR-CLIP	26701625
MIRT748794	hsa-miR-4781-5p	PAR-CLIP	26701625
MIRT749058	hsa-miR-485-5p	PAR-CLIP	26701625
MIRT749276	hsa-miR-497-5p	PAR-CLIP	26701625
MIRT749901	hsa-miR-518c-5p	PAR-CLIP	26701625
MIRT750189	hsa-miR-520a-5p	PAR-CLIP	26701625
MIRT750296	hsa-miR-525-5p	PAR-CLIP	26701625
MIRT750986	hsa-miR-5586-3p	PAR-CLIP	26701625
MIRT751397	hsa-miR-571	PAR-CLIP	26701625
MIRT751465	hsa-miR-5787	PAR-CLIP	26701625
MIRT753004	hsa-miR-650	PAR-CLIP	26701625
MIRT753995	hsa-miR-6731-5p	PAR-CLIP	26701625
MIRT754589	hsa-miR-6751-5p	PAR-CLIP	26701625
MIRT755041	hsa-miR-6764-3p	PAR-CLIP	26701625
MIRT755383	hsa-miR-6777-5p	PAR-CLIP	26701625
MIRT756395	hsa-miR-6803-5p	PAR-CLIP	26701625
MIRT756823	hsa-miR-6817-3p	PAR-CLIP	26701625
MIRT756933	hsa-miR-6824-3p	PAR-CLIP	26701625
MIRT757277	hsa-miR-6838-5p	PAR-CLIP	26701625
MIRT757428	hsa-miR-6846-5p	PAR-CLIP	26701625
MIRT757502	hsa-miR-6848-5p	PAR-CLIP	26701625
MIRT758047	hsa-miR-6873-3p	PAR-CLIP	26701625
MIRT758500	hsa-miR-6884-5p	PAR-CLIP	26701625
MIRT758632	hsa-miR-6889-5p	PAR-CLIP	26701625
MIRT758944	hsa-miR-7109-5p	PAR-CLIP	26701625
MIRT758965	hsa-miR-7110-3p	PAR-CLIP	26701625
MIRT759945	hsa-miR-7855-5p	PAR-CLIP	26701625
MIRT760198	hsa-miR-8085	PAR-CLIP	26701625
MIRT760305	hsa-miR-873-5p	PAR-CLIP	26701625
MIRT760430	hsa-miR-890	PAR-CLIP	26701625
MIRT760494	hsa-miR-922	PAR-CLIP	26701625

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 message 2) (TRPM-2) [Cleaved into: Clusterin beta chain (ApoJalpha) (Complement cytolysis inhibitor a chain); Clusterin alpha chain (ApoJbeta) (Complement cytolysis inhibitor b chain)]
• 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:17260971, PubMed:19996109). Inhibits formation of amyloid fibrils by APP, APOC2, B2M, CALCA, CSN3, SNCA and aggregation-prone LYZ variants (in vitro) (PubMed:12047389, PubMed:17412999, PubMed:17407782). Does not require ATP (PubMed:11123922). Maintains partially unfolded proteins in a state appropriate for subsequent refolding by other chaperones, such as HSPA8/HSC70 (PubMed:11123922). Does not refold proteins by itself (PubMed:11123922). Binding to cell surface receptors triggers internalization of the chaperone-client complex and subsequent lysosomal or proteasomal degradation (PubMed:21505792). Protects cells against apoptosis and against cytolysis by complement (PubMed:2780565). Intracellular forms interact with ubiquitin and SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes and promote the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:20068069). Promotes proteasomal degradation of COMMD1 and IKBKB (PubMed:20068069). Modulates NF-kappa-B transcriptional activity (PubMed:12882985). A mitochondrial form suppresses BAX-dependent release of cytochrome c into the cytoplasm and inhibit apoptosis (PubMed:16113678, PubMed:17689225). Plays a role in the regulation of cell proliferation (PubMed:19137541). An intracellular form suppresses stress-induced apoptosis by stabilizing mitochondrial membrane integrity through interaction with HSPA5 (PubMed:22689054). Secreted form does not affect caspase or BAX-mediated intrinsic apoptosis and TNF-induced NF-kappa-B-activity (PubMed:24073260). Secreted form act as an important modulator during neuronal differentiation through interaction with STMN3 (By similarity). Plays a role in the clearance of immune complexes that arise during cell injury (By similarity). ; [Isoform 6]: Does not affect caspase or BAX-mediated intrinsic apoptosis and TNF-induced NF-kappa-B-activity. ; [Isoform 4]: Does not affect caspase or BAX-mediated intrinsic apoptosis and TNF-induced NF-kappa-B-activity (PubMed:24073260). Promotes cell death through interaction with BCL2L1 that releases and activates BAX (PubMed:21567405).
• Family and domains:

  Pfam

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

• 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 name	Disease term	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Familial	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs-1, rs267606928, rs267606929, rs1885090126, 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, rs749428135, rs371575563, rs1402429085, rs1218712729, 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
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs-1, 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
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	11796754
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, rs-1, 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
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	24863737, 21258088, 21593213
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17148459
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, rs-1, 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, rs145518263, 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
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs-1, rs104894094, rs1563902635, 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
Arthritis	Degenerative polyarthritis, Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	18784066, 17568789, 19565504

Unknown
Disease name	Disease term	dbSNP ID	References
Clonic seizures	Clonic Seizures		23266720
Cognitive disorder	Mild cognitive disorder		30503753
Hypotonic seizures	Epileptic drop attack		23266720
Impaired cognition	Impaired cognition		30503753
Jacksonian seizure	Jacksonian Seizure		23266720
Juvenile arthritis	Juvenile psoriatic arthritis		19565504
Kidney failure	Kidney Failure, Acute		22005293, 28885000, 20623750, 20118187, 24361871, 23052191
Lupus erythematosus	Lupus Erythematosus, Systemic		15304052
Nonbacterial verrucal endocardiosis	Libman-Sacks Disease		15304052
Osteoarthrosis deformans	Osteoarthrosis Deformans		17568789, 18784066
Seronegative polyarthritis	Polyarthritis, Juvenile, Rheumatoid Factor Negative		19565504
Polyarthritis, rheumatoid factor positive	Polyarthritis, Juvenile, Rheumatoid Factor Positive		19565504
Prostatic neoplasms	Prostatic Neoplasms		17148459
Acute kidney insufficiency	Acute Kidney Insufficiency		20118187, 22005293, 20623750, 24361871, 28885000, 23052191
Senile dementia	Presenile dementia, Acute Confusional Senile Dementia		19734903, 19734902, 21460841
Still disease	Juvenile-Onset Still Disease		19565504