SCARB1 (scavenger receptor class B member 1)

Gene

• Entrez ID: 949
• Gene name: Scavenger receptor class B member 1
• Gene symbol: SCARB1
• Synonyms (NCBI Gene): CD36L1, CLA-1, CLA1, HDLCQ6, HDLQTL6, SR-BI, SRB1
• Chromosome: 12
• Chromosome location: 12q24.31
• Summary: The protein encoded by this gene is a plasma membrane receptor for high density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74830677	G>A	Pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT035549	hsa-miR-185-5p	Luciferase reporter assay	23459944
MIRT035549	hsa-miR-185-5p	Luciferase reporter assay	23459944
MIRT035549	hsa-miR-185-5p	Luciferase reporter assay	23459944
MIRT035550	hsa-miR-96-5p	Luciferase reporter assay	23459944
MIRT035551	hsa-miR-223-3p	Luciferase reporter assay	23459944
MIRT049705	hsa-miR-92a-3p	CLASH	23622248
MIRT043218	hsa-miR-324-5p	CLASH	23622248
MIRT040078	hsa-miR-615-3p	CLASH	23622248
MIRT037037	hsa-miR-877-3p	CLASH	23622248
MIRT646985	hsa-miR-3610	HITS-CLIP	23824327
MIRT646984	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT646983	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT646982	hsa-miR-5091	HITS-CLIP	23824327
MIRT646981	hsa-miR-5739	HITS-CLIP	23824327
MIRT646980	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT646979	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT646985	hsa-miR-3610	HITS-CLIP	23824327
MIRT646984	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT646983	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT646982	hsa-miR-5091	HITS-CLIP	23824327
MIRT646981	hsa-miR-5739	HITS-CLIP	23824327
MIRT646980	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT646979	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT035550	hsa-miR-96-5p	Microarray, qRT-PCR	35816043
MIRT1328450	hsa-miR-1227	CLIP-seq
MIRT1328451	hsa-miR-1268	CLIP-seq
MIRT1328452	hsa-miR-1268b	CLIP-seq
MIRT1328453	hsa-miR-19a	CLIP-seq
MIRT1328454	hsa-miR-19b	CLIP-seq
MIRT1328455	hsa-miR-297	CLIP-seq
MIRT1328456	hsa-miR-3665	CLIP-seq
MIRT1328457	hsa-miR-3934	CLIP-seq
MIRT1328458	hsa-miR-3944-5p	CLIP-seq
MIRT1328459	hsa-miR-4685-5p	CLIP-seq
MIRT1328460	hsa-miR-4755-3p	CLIP-seq
MIRT1328461	hsa-miR-567	CLIP-seq
MIRT1328462	hsa-miR-596	CLIP-seq
MIRT1328463	hsa-miR-657	CLIP-seq
MIRT2097484	hsa-miR-1207-5p	CLIP-seq
MIRT2097485	hsa-miR-125a-5p	CLIP-seq
MIRT2097486	hsa-miR-125b	CLIP-seq
MIRT2097487	hsa-miR-1265	CLIP-seq
MIRT2097488	hsa-miR-1910	CLIP-seq
MIRT2097489	hsa-miR-223	CLIP-seq
MIRT2097490	hsa-miR-2392	CLIP-seq
MIRT2097491	hsa-miR-24	CLIP-seq
MIRT2097492	hsa-miR-2964a-5p	CLIP-seq
MIRT2097493	hsa-miR-296-5p	CLIP-seq
MIRT2097494	hsa-miR-3200-5p	CLIP-seq
MIRT2097495	hsa-miR-339-3p	CLIP-seq
MIRT2097496	hsa-miR-3659	CLIP-seq
MIRT2097497	hsa-miR-3677-5p	CLIP-seq
MIRT2097498	hsa-miR-3682-5p	CLIP-seq
MIRT2097499	hsa-miR-3714	CLIP-seq
MIRT2097500	hsa-miR-3918	CLIP-seq
MIRT2097501	hsa-miR-4264	CLIP-seq
MIRT2097502	hsa-miR-4319	CLIP-seq
MIRT2097503	hsa-miR-4328	CLIP-seq
MIRT2097504	hsa-miR-455-3p	CLIP-seq
MIRT2097505	hsa-miR-4658	CLIP-seq
MIRT2097506	hsa-miR-4693-3p	CLIP-seq
MIRT2097507	hsa-miR-4697-3p	CLIP-seq
MIRT2097508	hsa-miR-4732-3p	CLIP-seq
MIRT2097509	hsa-miR-4743	CLIP-seq
MIRT2097510	hsa-miR-4763-3p	CLIP-seq
MIRT2097511	hsa-miR-556-3p	CLIP-seq
MIRT2097512	hsa-miR-574-5p	CLIP-seq
MIRT1328462	hsa-miR-596	CLIP-seq
MIRT2097513	hsa-miR-665	CLIP-seq
MIRT2097514	hsa-miR-670	CLIP-seq
MIRT2097515	hsa-miR-940	CLIP-seq
MIRT2321778	hsa-miR-10a	CLIP-seq
MIRT2321779	hsa-miR-10b	CLIP-seq
MIRT2321780	hsa-miR-1294	CLIP-seq
MIRT2321781	hsa-miR-3184	CLIP-seq
MIRT2097495	hsa-miR-339-3p	CLIP-seq
MIRT2321782	hsa-miR-423-5p	CLIP-seq
MIRT2321783	hsa-miR-4316	CLIP-seq
MIRT2321784	hsa-miR-4447	CLIP-seq
MIRT2321785	hsa-miR-4472	CLIP-seq
MIRT2321786	hsa-miR-4488	CLIP-seq
MIRT2321787	hsa-miR-4651	CLIP-seq
MIRT2321788	hsa-miR-4660	CLIP-seq
MIRT2321789	hsa-miR-4677-3p	CLIP-seq
MIRT2321790	hsa-miR-4680-3p	CLIP-seq
MIRT2321791	hsa-miR-4697-5p	CLIP-seq
MIRT2321792	hsa-miR-486-3p	CLIP-seq
MIRT2321793	hsa-miR-608	CLIP-seq
MIRT2097513	hsa-miR-665	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR1H4	Activation	20956002
SPI1	Unknown	8007948
STAT1	Unknown	17998316
STAT2	Unknown	17998316

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001530	Function	Lipopolysaccharide binding	IDA	12651854
GO:0001540	Function	Amyloid-beta binding	IEA
GO:0001618	Function	Virus receptor activity	IEA
GO:0001786	Function	Phosphatidylserine binding	ISS
GO:0001875	Function	Lipopolysaccharide immune receptor activity	IDA	12651854
GO:0001935	Process	Endothelial cell proliferation	IEA
GO:0005044	Function	Scavenger receptor activity	IBA	21873635
GO:0005044	Function	Scavenger receptor activity	TAS	11240025
GO:0005215	Function	Transporter activity	TAS	9211901
GO:0005515	Function	Protein binding	IPI	12356718, 25416956, 30024968, 32814053, 32900848
GO:0005545	Function	1-phosphatidylinositol binding	TAS	9211901
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005764	Component	Lysosome	IDA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	9211901
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IEA
GO:0005901	Component	Caveola	IBA	21873635
GO:0005901	Component	Caveola	TAS	12651854
GO:0006702	Process	Androgen biosynthetic process	IEA
GO:0006707	Process	Cholesterol catabolic process	IEA
GO:0006898	Process	Receptor-mediated endocytosis	TAS
GO:0008035	Function	High-density lipoprotein particle binding	IEA
GO:0008289	Function	Lipid binding	IBA	21873635
GO:0009986	Component	Cell surface	ISS	21481393
GO:0010595	Process	Positive regulation of endothelial cell migration	TAS	17574123
GO:0010867	Process	Positive regulation of triglyceride biosynthetic process	ISS
GO:0010886	Process	Positive regulation of cholesterol storage	IDA	9211901
GO:0010899	Process	Regulation of phosphatidylcholine catabolic process	ISS
GO:0015914	Process	Phospholipid transport	ISS
GO:0015920	Process	Lipopolysaccharide transport	IDA	12651854
GO:0030169	Function	Low-density lipoprotein particle binding	IBA	21873635
GO:0030169	Function	Low-density lipoprotein particle binding	IDA	9211901
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0031528	Component	Microvillus membrane	IEA
GO:0031663	Process	Lipopolysaccharide-mediated signaling pathway	IEA
GO:0032497	Process	Detection of lipopolysaccharide	IDA	12651854
GO:0033344	Process	Cholesterol efflux	IBA	21873635
GO:0033344	Process	Cholesterol efflux	IMP	12202492
GO:0033344	Process	Cholesterol efflux	ISS	14718538
GO:0034185	Function	Apolipoprotein binding	IPI	10764676
GO:0034186	Function	Apolipoprotein A-I binding	IPI	10764676, 12651854
GO:0034375	Process	High-density lipoprotein particle remodeling	ISS
GO:0034381	Process	Plasma lipoprotein particle clearance	IBA	21873635
GO:0034383	Process	Low-density lipoprotein particle clearance	ISS
GO:0034384	Process	High-density lipoprotein particle clearance	IDA	9211901
GO:0034384	Process	High-density lipoprotein particle clearance	TAS
GO:0035461	Process	Vitamin transmembrane transport	IMP	11208913
GO:0042060	Process	Wound healing	TAS	17574123
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043534	Process	Blood vessel endothelial cell migration	IEA
GO:0043654	Process	Recognition of apoptotic cell	IBA	21873635
GO:0043654	Process	Recognition of apoptotic cell	IDA	9211901
GO:0043691	Process	Reverse cholesterol transport	IEP	9211901
GO:0044406	Process	Adhesion of symbiont to host	IMP	19087225
GO:0046718	Process	Viral entry into host cell	IEA
GO:0050764	Process	Regulation of phagocytosis	IC	9211901
GO:0050892	Process	Intestinal absorption	IEA
GO:0051000	Process	Positive regulation of nitric-oxide synthase activity	IDA	11792700
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070328	Process	Triglyceride homeostasis	ISS
GO:0070506	Function	High-density lipoprotein particle receptor activity	IDA	9211901
GO:0070506	Function	High-density lipoprotein particle receptor activity	IMP	11208913
GO:0070508	Process	Cholesterol import	IBA	21873635
GO:0070508	Process	Cholesterol import	IMP	11208913, 26965621
GO:0070508	Process	Cholesterol import	ISS	14718538

Other IDs

• MIM: 601040
• HGNC: 1664
• e!Ensembl: ENSG00000073060

Protein

• UniProt ID: Q8WTV0
• Protein name: Scavenger receptor class B member 1 (SRB1) (CD36 and LIMPII analogous 1) (CLA-1) (CD36 antigen-like 1) (Collagen type I receptor, thrombospondin receptor-like 1) (SR-BI) (CD antigen CD36)
• Protein function: Receptor for different ligands such as phospholipids, cholesterol ester, lipoproteins, phosphatidylserine and apoptotic cells (PubMed:12016218, PubMed:12519372, PubMed:21226579). Receptor for HDL, mediating selective uptake of cholesteryl ether
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01130	CD36	16 → 463	CD36 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed.
• Sequence:

  MGCSAKARWAAGALGVAGLLCAVLGAVMIVMVPSLIKQQVLKNVRIDPSSLSFNMWKEIP
  IPFYLSVYFFDVMNPSEILKGEKPQVRERGPYVYREFRHKSNITFNNNDTVSFLEYRTFQ
  FQPSKSHGSESDYIVMPNILVLGAAVMMENKPMTLKLIMTLAFTTLGERAFMNRTVGEIM
  WGYKDPLVNLINKYFPGMFPFKDKFGLFAELNNSDSGLFTVFTGVQNISRIHLVDKWNGL
  SKVDFWHSDQCNMINGTSGQMWPPFMTPESSLEFYSPEACRSMKLMYKESGVFEGIPTYR
  FVAPKTLFANGSIYPPNEGFCPCLESGIQNVSTCRFSAPLFLSHPHFLNADPVLAEAVTG
  LHPNQEAHSLFLDIHPVTGIPMNCSVKLQLSLYMKSVAGIGQTGKIEPVVLPLLWFAESG
  AMEGETLHTFYTQLVLMPKVMHYAQYVLLALGCVLLLVPVICQIRSQVGAGQRAARADSH
  SLACWGKGASDRTLWPTAAWSPPPAAVLRLCRSGSGHCWGLRSTLASFACRVATTLPVLE
  GLGPSLGGGTGS

• Sequence length: 552

Pathways

KEGG:

Virion - Hepatitis viruses
Phagosome
Ovarian steroidogenesis
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome
Fat digestion and absorption
Bile secretion
Vitamin digestion and absorption
Cholesterol metabolism
Hepatitis C

Reactome:

Scavenging by Class B Receptors
HDL clearance

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	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	30805717
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	12376462
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	28714975, 23202125, 29212778
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	21131975
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	28598434, 21131975

Unknown
Disease term	Disease name	Evidence	References	Source
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma		21131975	ClinVar
Coronary heart disease	Coronary heart disease		28753643	ClinVar
Coronary syndrome	Acute Coronary Syndrome		28753643	ClinVar
Renal Carcinoma	Renal Carcinoma			GWAS
Myocardial Infarction	Myocardial Infarction			GWAS
Coronary Heart Disease	Coronary Heart Disease			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Neuroticism	Neuroticism			GWAS
Diabetes	Diabetes			GWAS
Heart Failure	Heart Failure			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Achalasia Addisonianism Alacrimia syndrome	Associate	37331934
Adenocarcinoma of Lung	Associate	29595658
Adrenal Insufficiency	Associate	37331934
Adrenocortical Carcinoma	Associate	10426565
Alagille Syndrome	Associate	15210845
Arthritis	Associate	22076945
Arthritis Rheumatoid	Associate	20304957
Ataxia Telangiectasia	Associate	24405662
Atherosclerosis	Associate	12238639, 16122381, 17587765, 20057170, 20160195, 22628436, 24713582, 27225585, 27651445, 27777974, 30289950, 31858876
Atherosclerosis	Inhibit	17957039
Blast Crisis	Associate	19654405
Breast Neoplasms	Associate	26456958
Carcinogenesis	Associate	29357836, 36735267
Carcinoma Hepatocellular	Associate	18000990, 19776133, 29430178
Carcinoma Large Cell	Stimulate	28993508
Carcinoma Pancreatic Ductal	Associate	27002321
Carcinoma Renal Cell	Associate	21131975, 25945350, 29357836, 30173145, 33608777, 37801479
Carcinoma Renal Cell	Stimulate	28466781
Cardiovascular Diseases	Associate	22628436, 30289950
Cardiovascular Diseases	Inhibit	28882953
CDKL5 deficiency disorder	Associate	26006105
Cerebral Infarction	Associate	24151447
Colonic Neoplasms	Associate	17959672
Coronary Artery Disease	Associate	23510561, 24151447, 26754576, 28209224, 28882953, 29596577, 30289950
Coronary Disease	Associate	27166935, 27777974, 34881703
COVID 19	Associate	32993136
Cushing Syndrome	Stimulate	10426565
Diabetes Complications	Associate	35806251
Diabetes Mellitus	Inhibit	17957039
Diabetes Mellitus	Associate	19276229
Diabetes Mellitus Type 2	Associate	19276229, 35299814
Dyslipidemias	Associate	28315561, 34881703
Fibrosis	Associate	36415047
Gallstones	Stimulate	18007013
Hepatitis C	Associate	18000990, 20949066, 36415047
Hyperaldosteronism	Associate	10426565
Hypercholesterolemia	Associate	23510561
Hyperglycemia	Inhibit	17957039
Hypospadias	Associate	22906644
Hypoxia	Inhibit	16122381
Infections	Associate	18000990
Inflammation	Associate	20304957
Insulin Resistance	Associate	19276229, 35806251
Leukemia Lymphocytic Chronic B Cell	Associate	28061439
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	19654405
Liver Cirrhosis	Associate	36415047
Lung Neoplasms	Associate	28993508
Lymphatic Metastasis	Stimulate	26456958
Lymphoma	Associate	36436934
Macular Degeneration	Associate	19806217, 23562302, 24346170
Melanoma	Associate	30823658
Melanoma Cutaneous Malignant	Associate	37801479
Metaphyseal chondrodysplasia with cone shaped epiphyses normal hair and normal hands	Associate	27166935
Myocardial Infarction	Associate	22628436, 23510561, 34881703
Nasopharyngeal Carcinoma	Associate	27071030, 37009875
Neoplasm Metastasis	Associate	29357836
Neoplasms	Stimulate	26055977
Neoplasms	Associate	26251134, 26456958, 28466781, 28993508, 29357836, 29595658
Neoplasms Adipose Tissue	Associate	32858880
Non alcoholic Fatty Liver Disease	Associate	34988225
Obesity	Associate	23039238, 23109900, 30659447
Ovarian Neoplasms	Associate	33608777
Overweight	Associate	23039238, 23109900
Pancreatic Neoplasms	Associate	27002321
Pheochromocytoma	Associate	10426565
Plaque Atherosclerotic	Associate	16122381, 20057170
Post Acute COVID 19 Syndrome	Associate	36890149
Primary cortisol resistance	Associate	10426565
Prostatic Neoplasms	Associate	18782595, 24623848
Prostatic Neoplasms	Stimulate	26251134
Rett Syndrome	Associate	23711372, 26006105
Sebaceous Gland Neoplasms	Associate	36735267
Small Cell Lung Carcinoma	Associate	28993508
Stomach Neoplasms	Associate	27893427, 37279381
Thyroid Cancer Papillary	Associate	27207655
Vascular Diseases	Associate	14730480
Vitiligo	Associate	36890149