SPP1 (secreted phosphoprotein 1)

Gene

• Entrez ID: 6696
• Gene name: Secreted phosphoprotein 1
• Gene symbol: SPP1
• Synonyms (NCBI Gene): BNSP, BSPI, ETA-1, OPN
• Chromosome: 4
• Chromosome location: 4q22.1
• Summary: The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane an

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004565	hsa-miR-299-5p	immunoblot	19538464
MIRT004565	hsa-miR-299-5p	qRT-PCR	19538464
MIRT004565	hsa-miR-299-5p	Luciferase reporter assay	19538464
MIRT004565	hsa-miR-299-5p	Luciferase reporter assay	19538464
MIRT004565	hsa-miR-299-5p	immunoblot, Luciferase reporter assay, Microarray, qRT-PCR	19538464
MIRT016866	hsa-miR-335-5p	Microarray	18185580
MIRT021279	hsa-miR-146a-5p	qRT-PCR	20110513
MIRT732307	hsa-miR-181b-5p	Luciferase reporter assay, qRT-PCR, Western blot	27192552
MIRT732307	hsa-miR-181b-5p	Luciferase reporter assay, qRT-PCR, Western blot	27192552
MIRT021279	hsa-miR-146a-5p	qRT-PCR	32921164
MIRT755688	hsa-miR-26a-5p	Western blotting, qRT-PCR, Flow cytometry	35246197
MIRT2433518	hsa-miR-181a	CLIP-seq
MIRT2433519	hsa-miR-181b	CLIP-seq
MIRT2433520	hsa-miR-181c	CLIP-seq
MIRT2433521	hsa-miR-181d	CLIP-seq
MIRT2433522	hsa-miR-577	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Activation	14712233
ERG	Activation	21669963
FOXD3	Activation	11891324
HDAC1	Repression	20609221;22422937
HTATIP2	Repression	18537194;19349353
ING4	Repression	17848618
NR3C1	Unknown	11126367
POU2F1	Unknown	11126367
POU2F2	Unknown	11126367
POU5F1	Activation	11891324
SP1	Unknown	11126367
TFCP2	Activation	20404171;21703197

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	IBA	21873635
GO:0005125	Function	Cytokine activity	IEA
GO:0005178	Function	Integrin binding	IPI	25839998
GO:0005515	Function	Protein binding	IPI	16189514, 20146103, 20549562, 21988832, 22582013, 25416956, 25910212, 26091039, 32296183, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	15516325
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0006710	Process	Androgen catabolic process	IDA	26482249
GO:0006954	Process	Inflammatory response	IEA
GO:0007155	Process	Cell adhesion	IBA	21873635
GO:0007155	Process	Cell adhesion	IDA	25839998
GO:0007165	Process	Signal transduction	IEA
GO:0007566	Process	Embryo implantation	TAS	16720713
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031214	Process	Biomineral tissue development	IEA
GO:0033280	Process	Response to vitamin D	IDA	16720713
GO:0042995	Component	Cell projection	IEA
GO:0043687	Process	Post-translational protein modification	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0045780	Process	Positive regulation of bone resorption	IBA	21873635
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	26482249
GO:0046697	Process	Decidualization	TAS	16720713
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048545	Process	Response to steroid hormone	IEA
GO:0048685	Process	Negative regulation of collateral sprouting of intact axon in response to injury	IEA
GO:0050840	Function	Extracellular matrix binding	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071394	Process	Cellular response to testosterone stimulus	IDA	26482249
GO:2000866	Process	Positive regulation of estradiol secretion	IDA	26482249

Other IDs

• MIM: 166490
• HGNC: 11255
• e!Ensembl: ENSG00000118785

Protein

• UniProt ID: P10451
• Protein name: Osteopontin (Bone sialoprotein 1) (Nephropontin) (Secreted phosphoprotein 1) (SPP-1) (Urinary stone protein) (Uropontin)
• Protein function: Major non-collagenous bone protein that binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction. ; Acts as a cytokine inv
• PDB: 3CXD, 3DSF, 9EOU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00865	Osteopontin	21 → 314	Osteopontin	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in cerebrospinal fluid and urine (at protein level) (PubMed:25326458, PubMed:36213313, PubMed:37453717). Bone. Found in plasma. {ECO:0000269|PubMed:25326458, ECO:0000269|PubMed:36213313, ECO:0000269|PubMed:37453717}.
• Sequence:

  MRIAVICFCLLGITCAIPVKQADSGSSEEKQLYNKYPDAVATWLNPDPSQKQNLLAPQNA
  VSSEETNDFKQETLPSKSNESHDHMDDMDDEDDDDHVDSQDSIDSNDSDDVDDTDDSHQS
  DESHHSDESDELVTDFPTDLPATEVFTPVVPTVDTYDGRGDSVVYGLRSKSKKFRRPDIQ
  YPDATDEDITSHMESEELNGAYKAIPVAQDLNAPSDWDSRGKDSYETSQLDDQSAETHSH
  KQSRLYKRKANDESNEHSDVIDSQELSKVSREFHSHEFHSHEDMLVVDPKSKEEDKHLKF
  RISHELDSASSEVN

• Sequence length: 314

Pathways

KEGG:

PI3K-Akt signaling pathway
Apelin signaling pathway
Focal adhesion
ECM-receptor interaction
Toll-like receptor signaling pathway
GnRH secretion
Human papillomavirus infection

Reactome:

Degradation of the extracellular matrix
Signaling by PDGF
Integrin cell surface interactions
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
RUNX3 Regulates Immune Response and Cell Migration
Post-translational protein phosphorylation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	21552421, 20495387
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
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	18949741, 22531848
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	22531848, 18949741
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	20495387, 21552421
Dermatitis	Dermatitis, Allergic Contact	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	14555839
Glioma	Glioma, mixed gliomas, Malignant Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701	16651633
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	27026710
Leukoencephalopathy	Leukoencephalopathy	rs34757931	11868353
Leukoencephalopathy with vanishing white matter	Childhood Ataxia with Central Nervous System Hypomyelinization	rs113994033, rs113994037, rs113994027, rs113994038, rs113994040, rs104894425, rs104894426, rs104894427, rs104894428, rs113994014, rs113994024, rs113994026, rs113994022, rs119474039, rs28939717, rs28937596, rs113994074, rs113994049, rs113994054, rs113994061, rs113994055, rs113994053, rs113994064, rs121908541, rs397514646, rs397514647, rs397514648, rs113994048, rs113994012, rs758746181, rs767933078, rs113994060, rs113994030, rs1064794256, rs141988913, rs113994016, rs372548739, rs752636698, rs755436800, rs113994068, rs545593935	11868353
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	22481206, 21552421
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	18949741, 22531848
Mesothelioma	Mesothelioma	rs121907908, rs387906350, rs387906351	18550471, 16221779
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578	25216247
Renal insufficiency	Renal Insufficiency	rs1596536873
Systemic lupus erythematosus	Systemic lupus erythematosus, Pediatric systemic lupus erythematosus	rs72556554, rs1575496354, rs1307379746, rs758750492, rs1575497576
Tumoral calcinosis	Tumoral calcinosis	rs104894343, rs104894344, rs745655924, rs137853086, rs375879489, rs761396172, rs137853087, rs137853091, rs137853088, rs137853089, rs137853090, rs766750282, rs760830864, rs786205250, rs267606841, rs1555096583, rs1220533001, rs762936774, rs775341386	21335463, 21193197

Unknown
Disease term	Disease name	Evidence	References	Source
Brain neoplasms	Brain Neoplasms, Malignant neoplasm of brain, Benign neoplasm of brain, unspecified, Brain Tumor, Primary, Recurrent Brain Neoplasm, Primary malignant neoplasm of brain		16651633	ClinVar
Gout	Gout			GWAS
Otosclerosis	Otosclerosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
3C syndrome	Associate	18442196
Acidemia isovaleric	Associate	26491674
Acro Osteolysis	Stimulate	19369175
Acrogeria gottron type	Associate	22456539
Acute Coronary Syndrome	Stimulate	22711477
Acute Coronary Syndrome	Associate	31530226
Acute Kidney Injury	Stimulate	30582197
Acute On Chronic Liver Failure	Associate	37257271
Adamantinoma	Associate	21983933
Adenocarcinoma	Associate	15136764, 20349162, 24299561, 26068949, 26081616
Adenocarcinoma	Stimulate	27331624
Adenocarcinoma of Lung	Associate	26081616, 28404947, 32578582, 32669531, 35603556, 35635202, 36688087, 36782138, 37287976, 37806608, 38081768, 40453096, 40657391
Adenoma	Associate	15999156, 30175151
Adenomatous Polyposis Coli	Associate	37565794
Adrenocortical Carcinoma	Associate	12547710
AIDS Associated Nephropathy	Associate	25636782
AIDS Dementia Complex	Associate	25636782
Air crescent sign	Associate	10620192
Airway Remodeling	Associate	20562127
Alcoholism	Associate	22530059
Allergic Fungal Sinusitis	Associate	35309360
Alveolitis Extrinsic Allergic	Associate	37833889
Alzheimer Disease	Associate	27845782, 32614981, 34556089, 36496454, 37406134
Ameloblastoma	Associate	21609487
Amyotrophic Lateral Sclerosis	Associate	25636782
Anemia Aplastic	Associate	27693387
Anemia Hemolytic	Associate	22131818
Aneurysm Ascending Aorta	Stimulate	22571802
Aneurysm Ascending Aorta	Associate	25465469, 37698712
Angina Unstable	Stimulate	16799237
Anterior Cruciate Ligament Injuries	Associate	23166604
Anthrax	Associate	29385060
Aortic Aneurysm Abdominal	Associate	22571802, 28665537, 29402664
Aortic Aneurysm Abdominal	Stimulate	28446225
Aortic Aneurysm Familial Abdominal 1	Stimulate	29402664
Aortic Diseases	Associate	31561491
Aortic Dissection	Stimulate	30626766
Aortic Valve Calcification of	Associate	27283399
Aortic Valve Disease	Stimulate	22093695, 23798203
Aortic Valve Disease	Associate	28821297, 32089075
Aortic Valve Stenosis	Associate	22093695
Aortic Valve Stenosis	Stimulate	23798203
Arthralgia	Associate	23166604
Arthritis Juvenile	Associate	16150788
Arthritis Rheumatoid	Stimulate	15761492, 19565503, 38041172
Arthritis Rheumatoid	Associate	19790060, 19950274, 20533542, 27141097, 30538782, 35022393, 35434133, 36439145, 39321281
Asthma	Associate	20562127, 22031818
Astrocytoma	Associate	18493866, 19048398
Asymptomatic Diseases	Stimulate	25636782
Atherosclerosis	Associate	17595250, 17706953, 22978720, 28990744, 33817720, 36224302, 8213995, 8254036
Atrial Fibrillation	Associate	32201587
Atrial Fibrillation	Stimulate	32778054
Atrial Remodeling	Associate	16087132
Autistic Disorder	Associate	18378158
Autoimmune Diseases	Associate	14592838, 22242114
Autoimmune Diseases of the Nervous System	Associate	22131818
Autoimmune Lymphoproliferative Syndrome	Associate	14592838, 16720836, 20378012, 20595097
Bacterial Infections	Associate	25866117
Bicuspid Aortic Valve Disease	Associate	31561491
Biliary Atresia	Associate	34918678
Blister	Associate	35874788
Body Weight	Associate	30274371
Bone Diseases	Associate	18854347, 19369175, 22071418, 23238945, 27312487, 29235490
Bone Diseases Metabolic	Associate	24831687, 35597928, 37192015
Bone Diseases Metabolic	Stimulate	29949526
Bone Resorption	Inhibit	28091516
Brain Damage Chronic	Associate	35240224
Brain Diseases	Associate	18378158
Brain Infarction	Associate	19281985
Brain Injuries	Associate	34654477, 39191768
Brain Neoplasms	Associate	27100728
Breast Diseases	Associate	23244138
Breast Neoplasms	Associate	12209742, 12771144, 12927044, 12929940, 14704150, 16807238, 18563556, 18949741, 19192668, 19538464, 20345480, 20459645, 20736952, 21772333, 21795853, 21801876, 23244138, 24157812, 24505115, 24714122, 24994498, 27400751, 28193231, 30353046, 31996744, 32722549, 33173383, 34055036, 35037689, 35433114, 35690734, 35819135, 36042045, 36175970, 36920269, 7856741, 9886175
Breast Neoplasms	Inhibit	17227585
Breast Neoplasms	Stimulate	20849637, 27401765, 31374364, 33670447
Bronchiolitis Obliterans Syndrome	Associate	27217465
Cachexia	Associate	37712645
Calcinosis	Associate	18949741, 21710445, 23244138, 23284864, 24758513, 25116355, 25760265, 27283399, 30274371, 34954251, 37646165, 37762132, 7856741, 8200973, 8213995, 8254036
Calcinosis	Inhibit	30769016
Calcinosis Cutis	Associate	17430594, 22938903, 24548099, 25961724
Calculi	Associate	34160472
Carcinogenesis	Associate	16880782, 17938278, 18717013, 19096147, 19850036, 21263033, 21673011, 25310823, 25337248, 27409830, 29406185, 37318593
Carcinoid Tumor	Stimulate	31664154
Carcinoma Basal Cell	Associate	17938278, 22895562, 24505115
Carcinoma Hepatocellular	Associate	12833464, 14716823, 16750200, 17006932, 18549897, 18717013, 18997126, 20345480, 20364155, 20576283, 21190594, 21512310, 21909361, 22927944, 23651211, 24498111, 24498405, 24614035, 24966965, 26189955, 26280346, 26514514, 26600502, 28323861, 29285854, 29669827, 29693976, 30177680, 30247807, 32815653, 32951492, 33215860, 33221766, 33574818, 33934539, 34028567, 34238253, 35418176, 35429302, 35560794, 35915607, 35958556, 36292719, 36353638, 36553600, 36769187, 36919193, 36994451, 37097499, 37259059, 37386390, 37566308, 37889536, 37923899, 37986299, 38282028, 38287833
Carcinoma Hepatocellular	Stimulate	21953299, 24240095, 25730089
Carcinoma Lobular	Associate	19583841
Carcinoma Non Small Cell Lung	Associate	16091764, 16166420, 16533775, 18779603, 19609729, 19818970, 20689445, 22853000, 23119061, 23883434, 24215488, 24528042, 24758329, 25261661, 25345853, 27422280, 28148898, 29558888, 31181055, 31792339, 37022147, 37491944, 38067149, 40252985
Carcinoma Non Small Cell Lung	Stimulate	28121629
Carcinoma Ovarian Epithelial	Associate	15890779, 28535511
Carcinoma Pancreatic Ductal	Associate	19628079, 20579680, 23407481, 36292645
Carcinoma Renal Cell	Associate	15999156, 40303328
Carcinoma Squamous Cell	Associate	17938278, 21673011, 24299561, 25380749, 27312487, 33092550, 36438481, 36867945, 37503341, 38067149
Cardiomegaly	Associate	11959041, 36046382
Cardiomyopathy Dilated	Associate	16087132, 26513582, 27479215, 28840590
Cardiomyopathy Hypertrophic	Associate	22796508
Cardiovascular Diseases	Associate	19281985, 22978720, 31530226, 31682178
Cardiovascular Diseases	Stimulate	29571288
Carotid Artery Diseases	Stimulate	25318463
Carotid Stenosis	Associate	19281985, 33817720
Cartilage Diseases	Associate	23166604
Central Nervous System Diseases	Associate	35240224
Cerebral Infarction	Associate	24355932
Cerebral Small Vessel Diseases	Associate	19788865, 37673055
Cerebrovascular Disorders	Associate	19281985
Chemical and Drug Induced Liver Injury	Associate	23112867
Chlamydia Infections	Stimulate	31383744
Cholangiocarcinoma	Associate	18442196, 25400775, 26838210, 27280413, 35558087, 36469154
Cholestasis Intrahepatic	Associate	34918678
Chordoma	Associate	24452533
Choriocarcinoma	Associate	26823725
Chronic Disease	Stimulate	26584297
Clear cell metastatic renal cell carcinoma	Associate	8080043
Cleft Lip	Stimulate	19287188
Cleft Palate	Associate	19287188
Cognition Disorders	Stimulate	21556958
Colitis Associated Neoplasms	Associate	35733095
Colitis Ulcerative	Stimulate	16099792
Colonic Neoplasms	Associate	17689681, 32936304, 38143338
Colorectal Neoplasms	Associate	14744111, 16733264, 17689681, 20349162, 21343932, 21383983, 23112867, 23322982, 23680656, 25132760, 25961724, 25973035, 26097606, 30363700, 30746900, 31137244, 31500540, 31560832, 32936304, 34959120, 35365629, 35681502, 35733095, 36222933, 36239989, 36377223, 36532065, 36656712, 37090726, 37691929, 38307957, 40127075
Colorectal Neoplasms	Stimulate	29851214, 31017126, 31849319
Communicable Diseases	Associate	15855273
Coronary Artery Disease	Associate	11068982, 37706320, 9256478
Coronary Artery Disease	Stimulate	28821297
Coronary Disease	Associate	31682178
Coronary Restenosis	Associate	9256478
Coronary Stenosis	Associate	37706320
COVID 19	Associate	33138195, 36427358, 37291214, 40224213
Coxa Magna	Associate	35035862
Craniocerebral Trauma	Stimulate	32622673
Craniopharyngioma	Associate	27983534, 38334125
Creutzfeldt Jakob Disease Sporadic	Associate	37644077
Crohn Disease	Stimulate	16099792
Crohn Disease	Associate	17444956, 22242114
Cystic Fibrosis	Associate	25492873
Death	Associate	10880373, 23072570, 23934016, 38067149
Dementia	Associate	37673055
Dental Plaque	Inhibit	20015201
Dental Plaque	Associate	27297950, 28990744
Dentigerous Cyst	Associate	21609487
Dentinogenesis Imperfecta	Associate	25578972
Dentofacial Deformities	Associate	29339669
Dermatomyositis	Associate	20605164, 22456539, 37259059, 38167532
Diabetes Mellitus	Associate	17595250, 20378012, 25776538, 33711030, 38058256
Diabetes Mellitus	Stimulate	20348234, 28417915
Diabetes Mellitus Type 1	Associate	20378012
Diabetes Mellitus Type 1	Stimulate	35460250
Diabetes Mellitus Type 2	Associate	25776538, 28990744, 29571288, 35281591, 40127075
Diabetes Mellitus Type 2	Stimulate	34917685, 35460250
Diabetic Nephropathies	Associate	34545296, 35843953, 38174742, 38292407
Diabetic Retinopathy	Stimulate	29463954
Dianzani autoimmune lymphoproliferative syndrome	Stimulate	14592838
Dianzani autoimmune lymphoproliferative syndrome	Associate	16720836, 20595097
Digital Dermatitis	Associate	36175970
Disease	Associate	37239316
Dissection Thoracic Aorta	Associate	28625769
Drug Hypersensitivity	Associate	24490170
Drug Related Side Effects and Adverse Reactions	Associate	28361855
Drug Related Side Effects and Adverse Reactions	Inhibit	33711030
Ductus Arteriosus Patent	Stimulate	24123979
Duodenal Neoplasms	Associate	37565794
Ectodermal Dysplasia	Associate	12547710
Endometrial Neoplasms	Associate	26509489, 31849319, 32141052, 32641130, 32908897, 8080043
Endometriosis	Inhibit	18672236
Endometriosis	Associate	23545719, 26289107, 32909189, 36074677
Epiretinal Membrane	Associate	21365018
Erdheim Chester Disease	Associate	18270430
Esophageal Neoplasms	Associate	32208405
Esophageal Squamous Cell Carcinoma	Associate	16880782, 29854808, 31950035, 32825936, 34404882, 36038839, 36467891, 39367943
Esophageal Squamous Cell Carcinoma	Stimulate	37187751
Familial Hypophosphatemic Rickets	Associate	28880715, 36051396
Familial Primary Pulmonary Hypertension	Associate	32714978
Fatty Liver Alcoholic	Associate	32682086
Fibrocartilaginous embolism	Associate	35833124
Fibroma Ossifying	Associate	25760265
Fibrosarcoma	Stimulate	36919193
Fibrosis	Associate	19191772, 21365018, 21953299, 27022226, 28745329, 28842322, 29068597, 31762326, 35312232, 35849803, 36807143, 37217992, 37698712, 37706320, 38174742
Fibrosis	Stimulate	22530059
Fibrous Dysplasia of Bone	Associate	9403710
Focal Cortical Dysplasia	Associate	34301297
Focal cortical dysplasia of Taylor	Associate	34301297
Fractures Bone	Associate	24831687
Frontotemporal Dementia	Associate	30292090
Gastritis	Associate	25479069
Gastritis Atrophic	Associate	25479069
Gastroesophageal Reflux	Associate	33850461
Gastrointestinal Stromal Tumors	Associate	24947165
Genital Diseases Male	Associate	18335026
Gestational Trophoblastic Disease	Associate	26823725
Giant Cell Arteritis	Stimulate	31162032
Giant Cell Tumor of Tendon Sheath	Associate	38017559
Glaucoma	Associate	37624696
Glioblastoma	Associate	10864205, 11300934, 19048398, 23238957, 26259597, 33596115, 34354698, 35275520, 36305723
Glioblastoma	Stimulate	18493866
Glioma	Associate	10864205, 20511184, 22906261, 25277531, 34162919, 34497663, 37158834, 37194413, 40495644
Glomerulonephritis	Associate	10620192, 22080623
Glomerulonephritis IGA	Inhibit	29523019
Glomerulonephritis IGA	Associate	31159229, 38174742
Glomerulonephritis Membranous	Associate	10620196, 38174742
Glomerulosclerosis Focal Segmental	Associate	37696527
Granuloma	Associate	16099792, 20075512, 29385060, 9177232
Granuloma Giant Cell	Associate	29339027
Granuloma Pyogenic	Associate	25760265
Granulomatosis with Polyangiitis	Associate	25939343
Granulomatous Disease Chronic	Stimulate	9177232
Graves Disease	Associate	23717583
Graves Ophthalmopathy	Stimulate	34546326
Hashimoto Disease	Inhibit	25824779
Head and Neck Neoplasms	Associate	20849637, 26259597, 28049456, 34977258, 35597928, 36510962
Heart Diseases	Associate	16087132, 25776538
Heart Failure	Stimulate	11959041, 18037740
Heart Failure	Associate	23245621, 36807143, 37706320
Heart Valve Diseases	Associate	16449517, 22191734
Hemangiosarcoma	Associate	39409192
Hepatitis C	Stimulate	24498111
Hereditary Breast and Ovarian Cancer Syndrome	Associate	23244138, 36175970, 7856741
Hernias Diaphragmatic Congenital	Associate	37726509
Histiocytosis Langerhans Cell	Stimulate	20220088
HIV Infections	Associate	19638732
HIV Infections	Stimulate	21556958, 25636782
Hydronephrosis	Associate	22744767
Hypercalcemia	Associate	32204402
Hypercalciuria Absorptive 2	Inhibit	27161247
Hyperkalemia	Associate	33092550
Hyperplasia	Associate	32032472
Hypersensitivity	Associate	15855273
Hypersensitivity Immediate	Associate	16166420
Hypertension	Stimulate	28091516, 30626766
Hypertension Portal	Associate	27022226
Hyperthyroidism	Stimulate	23437160
Hypertrophy	Associate	22393163, 23388029, 24293574, 32462909
Hypertrophy Left Ventricular	Associate	32462909
Hypophosphatasia	Inhibit	22703652
Hypothyroidism	Inhibit	23437160
Hypothyroidism Congenital Nongoitrous 2	Associate	23545719
Hypoxia	Stimulate	16533775, 19740309, 20109337, 20729179, 26259597, 32032472, 34379579
Hypoxia	Associate	18779603, 19143755, 19706414, 20377868, 30367545, 35309336, 37481543, 40482645
Hypoxia	Inhibit	25889814
Hypoxia Brain	Stimulate	19740309, 25310823
Hypoxia Brain	Associate	20109337, 36855107
Hypoxia Brain	Inhibit	26259597
Idiopathic Noncirrhotic Portal Hypertension	Stimulate	27022226
Idiopathic Pulmonary Fibrosis	Associate	16128620, 23783374, 31221805, 31762326, 33672678, 34285914, 39340293
Idiopathic Pulmonary Fibrosis	Stimulate	20169073, 21309737
IgA Vasculitis	Associate	15761492, 20533542
Immune System Diseases	Associate	23675517
Infant Newborn Diseases	Associate	24123979
Infections	Associate	26731746
Infections	Inhibit	40495644
Infections	Stimulate	9177232
Infertility	Associate	33047155
Inflammation	Associate	10880373, 15761492, 17022822, 17444956, 18335026, 18949741, 19565503, 20348234, 20562127, 20579680, 21365018, 21556958, 22131818, 22431140, 22456539, 22711477, 22978720, 23675517, 24490170, 24498111, 24626632, 25116355, 25482081, 25492873, 25535126, 25760265, 25776538, 26568002, 27141814, 27199509, 29402664, 29716755, 30177680, 30813269, 31159229, 31664154, 31687048, 33817720, 34654477, 34721759, 35240224, 35309336, 35309360, 35874788, 36463168, 37352863, 37698712, 38058256, 38256074
Inflammation	Stimulate	22530059, 24240095, 24674683, 25132761, 26584297, 38250077
Inflammation	Inhibit	28091516, 36438481
Inflammatory Bowel Diseases	Associate	22242114
Influenza Human	Associate	25866117, 35240224
Insulin Resistance	Associate	20007708, 23675517, 25776538
Intervertebral Disc Degeneration	Associate	35409356
Intestinal Neoplasms	Associate	21992455
Iron Overload	Associate	32462909
Job Syndrome	Associate	29868029
Kidney Calculi	Associate	17519954, 23874695, 27297950, 35016690
Kidney Diseases	Associate	10620192
Klippel Feil Syndrome	Associate	25116355
Laryngitis	Associate	17987038
Leukemia	Associate	25591760, 33127669
Leukemia Biphenotypic Acute	Associate	26898195, 33127669
Leukemia Monocytic Acute	Associate	22456539
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	22510874, 27693387
Leukemia Myeloid Acute	Associate	19805619, 22510874, 25591760, 27248172, 28361855, 33284559
Leukoencephalopathies	Stimulate	34654477
Lichen Planus Oral	Associate	26303119
Liver Cirrhosis	Stimulate	22530059
Liver Cirrhosis	Associate	25132761, 29491288
Liver Diseases	Associate	22530059, 24498111, 25387814
Liver Diseases Alcoholic	Associate	22530059
Liver Failure	Associate	22530059, 24498111, 37257271
Liver Failure	Stimulate	24240095
Liver Neoplasms	Associate	21337710, 30177680
Lung Diseases	Stimulate	25866117
Lung Diseases	Associate	37121213, 37291214
Lung Diseases Interstitial	Stimulate	33294861, 38167532
Lung Diseases Interstitial	Associate	35849803
Lung Injury	Associate	25866117, 33294861
Lung Neoplasms	Associate	19609729, 19818970, 22481206, 23883434, 24758329, 27487131, 31792339, 34234236, 34308964, 34671675, 34767762, 37121213
Lung Neoplasms	Stimulate	29949526
Lupus Erythematosus Systemic	Associate	15692970, 18335026, 19339987, 20378012, 22131818, 23343383, 24023622, 27211902, 34847931, 38256074
Lupus Nephritis	Associate	38256074
Lymphadenitis	Associate	10880373
Lymphatic Diseases	Associate	15692970
Lymphatic Metastasis	Stimulate	16203990, 16880782, 17148500, 22591637, 24528042, 25824779, 31017126
Lymphatic Metastasis	Associate	18023025, 21768699, 23119061, 23867349, 24498405, 24714122, 25400775, 26838210, 30459815, 37938367
Lymphoma Non Hodgkin	Associate	26381542, 38216032
Macular Degeneration	Associate	34389792
Melanoma	Associate	15854047, 16505010, 17938278, 17968313, 18023025, 19887478, 20859289, 23349796, 23934016, 24412090, 25944164, 28075446, 28790109, 33139674, 34257527, 36091936, 38058256
Melanoma	Stimulate	19332774
Melanoma Cutaneous Malignant	Associate	23934016, 28075446, 31849319
Meningioma	Associate	20386868, 23238945, 37515398
Mesothelioma Malignant	Associate	32510678
Metabolic Syndrome	Associate	18406574, 24123979
Mitral Valve Stenosis	Stimulate	27283399
Mobility Limitation	Associate	25476005, 25641372, 26513582, 36011296
Mouth Diseases	Stimulate	23545719
Mouth Neoplasms	Associate	18360107, 26491674, 30459815, 36510962, 37641028
Movement Disorders	Associate	26785368
Multicystic renal dysplasia bilateral	Associate	22744767
Multiple Myeloma	Associate	17848618, 18512025, 33152124
Multiple Myeloma	Stimulate	22510874, 29491288
Multiple Sclerosis	Associate	20378012, 23008732, 26785368
Multiple Sclerosis Chronic Progressive	Associate	25860354
Multiple Sclerosis Relapsing Remitting	Associate	25860354
Muscle Weakness	Associate	32343055
Muscular Atrophy	Associate	24626632
Muscular Dystrophy Duchenne	Associate	21178099, 22431140, 22744661, 24626632, 25641372, 25935398, 26513582, 27745838, 32343055, 35897138, 36011296
Mycobacterium Infections Nontuberculous	Associate	10880373
Myocardial Infarction	Associate	19281985, 31530226, 31772617
Myopathies Structural Congenital	Associate	37187751
Myositis Ossificans	Associate	31745065
Myostatin related muscle hypertrophy	Associate	24626632
Nasopharyngeal Carcinoma	Associate	21768699, 22591637, 24961145, 39742726
Necrosis	Associate	8200973
Neointima	Associate	17519954, 23692545
Neoplasm Invasiveness	Associate	23867349, 30353046, 37121213
Neoplasm Metastasis	Associate	12209742, 12833464, 14716823, 16091764, 16807238, 16880782, 17227585, 17689681, 18347142, 18493866, 18549897, 18593988, 18676742, 18717013, 18997126, 19562270, 19585508, 19706414, 20212451, 20345480, 20426768, 20579680, 21190594, 21263033, 21337710, 21343932, 21406114, 21647815, 21669963, 21795853, 23072570, 23322982, 23883434, 24215488, 24240095, 24343358, 24412090, 24498111, 24548099, 24614035, 24714122, 24758329, 25310823, 25400775, 25482081, 25824779, 25944164, 25961724, 25973035, 26062800, 26189955, 26259597, 26509489, 26600502, 27409830, 28745433, 28849219, 29406185, 30353046, 31331331, 31374364, 31500540, 31704731, 31792339, 33173383, 33323051, 34257527, 34572536, 34721759, 34804043, 35433114, 36042045, 36671569, 37097499, 37318593, 37691929, 38058256, 38067149, 40076844, 8080043
Neoplasm Metastasis	Stimulate	17148500, 20609221, 22591637, 23112867, 25261661, 25345853, 27422280, 28259975, 29285854, 29669827
Neoplasm Metastasis	Inhibit	37491944
Neoplasm Recurrence Local	Stimulate	24175796
Neoplasms	Associate	12209742, 12929940, 14716823, 15136764, 15854047, 16091764, 16166420, 16258259, 16807238, 16880782, 17005603, 17148500, 17227585, 17689681, 17938278, 17987038, 18184868, 18210151, 18493866, 18593988, 18717013, 18849546, 18949741, 18997126, 19061491, 19090971, 19155301, 19192668, 19369175, 19538464, 19562270, 19706414, 19740309, 19850036, 20186700, 20212451, 20349162, 20377868, 20459645, 20495367, 20545695, 20736952, 21337710, 21343932, 21459756, 21669963, 21768699, 21795853, 21992455, 22090358, 22302986, 22355367, 22461132, 22471890, 22591637, 22853000, 22938903, 23072570, 23112867, 23238957, 23349796, 23651211, 23680656, 23721519, 23867349, 23883434, 23934016, 24074379, 24157812, 24175796, 24215488, 24240095, 24299561, 24451146, 24498111, 24528042, 24548099, 24700685, 24714122, 24758513, 24928374, 24947165, 25157961, 25185697, 25202906, 25277531, 25310823, 25337248, 25345853, 25595895, 25625274, 25797265, 25824779, 25884485, 25885552, 25944164, 26068949, 26259597, 26381542, 26404131, 26469352, 26491674, 26509489, 26600502, 26634745, 26838210, 26856686, 27312487, 27409830, 27422280, 27487131, 27557561, 27997896, 28105936, 28193231, 29209142, 29332262, 29406185, 29693976, 29854808, 29949526, 30175151, 30177680, 30274371, 30367545, 30883338, 31017126, 31374364, 31500540, 31792339, 31824138, 31849319, 32141052, 32204402, 32510678, 33173383, 33221766, 33416171, 33542925, 33761685, 34028567, 34126961, 34187410, 34216724, 34257527, 34295336, 34359989, 34379579, 34498424, 34572536, 34721759, 34857857, 34977258, 35037689, 35275520, 35365629, 35418176, 35429302, 35432310, 35433114, 35647840, 35681502, 36239989, 36438481, 36469154, 36585688, 36688087, 36867945, 37022147, 37090726, 37232542, 37535729, 37565794, 37566308, 37889539, 38006433, 38039408, 38058256, 38067149, 38095640, 38115703, 38191424, 38217023, 38282028, 39267750, 39409192, 39742726, 40076844, 40303328, 40657391, 8080043, 9886175
Neoplasms	Stimulate	12833464, 14744111, 18023025, 19048398, 19594898, 20609221, 20849637, 22361633, 33807717, 37318593
Neoplasms Fibroepithelial	Associate	25760265
Nephrocalcinosis	Associate	16164641
Nephrolithiasis	Associate	17519954, 23235966
Nephrolithiasis Calcium Oxalate	Associate	26353961
Neurilemmoma	Associate	23354516
Neurocognitive Disorders	Stimulate	21556958
Neurocognitive Disorders	Associate	25636782
Neurodegenerative Diseases	Associate	35240224, 37673055
Neurofibroma Plexiform	Associate	25884485
Neurofibrosarcoma	Associate	25884485, 29332262, 30883338
Neuroinflammatory Diseases	Associate	32622673, 34654477, 37644077, 37673055
Neuroma Acoustic	Associate	23354516
Non alcoholic Fatty Liver Disease	Stimulate	32730345
Non alcoholic Fatty Liver Disease	Associate	33574818
Non Muscle Invasive Bladder Neoplasms	Stimulate	22895562
Nonsyndromic Holoprosencephaly	Associate	19587696
Nose Diseases	Associate	25939343
Obesity	Stimulate	17595250, 23675517, 25776538, 28417915
Obesity	Associate	19265796, 20007708, 37871278
Odontogenic Cyst Calcifying	Associate	11068982
Odontogenic Cysts	Associate	19369175
Optic Nerve Diseases	Associate	37624696
Optic Nerve Glioma	Associate	18493866
Organizing Pneumonia	Associate	23343383
Osteoarthritis	Associate	15541045, 23166604, 23289928, 23671648, 25535126, 27126955, 27556044, 30777930, 32832544, 33051414, 33134374, 33446111, 36034459, 40102843
Osteoarthritis	Stimulate	15936918, 17187661, 32819387
Osteoarthritis Knee	Associate	23289928, 27556044, 30777930
Osteoarthritis Knee	Stimulate	23608377
Osteofibrous Dysplasia	Associate	21983933
Osteogenesis Imperfecta	Associate	33850461
Osteoporosis	Inhibit	19877060
Osteoporosis	Associate	24831687, 29949526, 35661288
Osteoporotic Fractures	Associate	23974861
Osteoporotic Fractures	Inhibit	35941659
Osteosarcoma	Associate	17022822, 20465837, 24983940, 26634745, 28849219, 30943004, 31941496
Osteosarcoma	Stimulate	25310823, 33797312
Ovarian Diseases	Associate	24928374
Ovarian Neoplasms	Associate	15305371, 20545695, 21263033, 28075407, 28611294, 28936921, 29745428, 32977853, 33416171, 36585688, 37143732
Overweight	Stimulate	17595250
Pancreatic Neoplasms	Stimulate	17012836, 30367545
Pancreatic Neoplasms	Associate	22461132, 23407481, 24548099, 29157747, 30456933
Pancreatitis	Associate	26458814
Parkinson Disease	Associate	25556233
Pathological Conditions Anatomical	Associate	37624696
Pdgfra Associated Chronic Eosinophilic Leukemia	Associate	35309360
Peri Implantitis	Inhibit	25406169
Peri Implantitis	Associate	34931168
Peritoneal Neoplasms	Associate	20495367
Personality Disorders	Associate	38067149
Pituitary Neoplasms	Associate	29235490
Plaque Atherosclerotic	Associate	18406574, 20015201, 28128285, 33817720, 8200973, 8213995, 8254036
Plaque Atherosclerotic	Stimulate	28821297
Pleural Effusion	Associate	24758329
Pleural Effusion Malignant	Associate	24758329
Polycystic Kidney Autosomal Dominant	Associate	30403162
Polycystic Ovary Syndrome	Associate	18353318, 32323770, 33047155, 35551681
Pre Eclampsia	Associate	32566660
Precancerous Conditions	Associate	19155301
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	20729179, 21080944, 21575156
Premature Birth	Stimulate	34654477
Primary hyperoxaluria type 1	Inhibit	27161247
Primary Myelofibrosis	Associate	28745329
Prostatic Hyperplasia	Associate	32356572
Prostatic Neoplasms	Associate	10835423, 17343740, 17430594, 18593988, 19143755, 19582779, 19850036, 21669963, 24928374, 26404131, 26469352, 26856686, 34379579, 34721759, 37239316, 37460872
Prostatic Neoplasms	Stimulate	19671866
Prostatic Neoplasms Castration Resistant	Associate	12209742, 34721759, 37352863
Prostatitis	Associate	12209742, 19671866, 21669963, 37232542
Pseudoxanthoma Elasticum	Associate	17384004
Pterygium	Associate	36187094
Pulmonary Arterial Hypertension	Associate	33816621, 34687701
Pulmonary Disease Chronic Obstructive	Associate	21883889, 27557561, 32757672, 39456887
Pulmonary Disease Chronic Obstructive	Stimulate	26731746, 31664154
Radial Neuropathy	Associate	23151010
Radiodermatitis	Stimulate	24175796
Renal Insufficiency	Associate	32032472, 37257271
Renal Insufficiency Chronic	Associate	26390291, 31687048, 36807143
Respiratory Distress Syndrome	Associate	32856055
Respiratory Tract Infections	Associate	30844659
Retinal Dysplasia	Stimulate	17987038
Retinal Neovascularization	Associate	21365018
Rheumatic Diseases	Stimulate	15956138
Rhinitis Allergic	Associate	27199509
Rosacea	Stimulate	38250077
Sarcoidosis	Associate	20075512
Sarcoma	Associate	16258259, 20377868, 22471890
Scleroderma Diffuse	Stimulate	24674683, 33809015
Scleroderma Systemic	Associate	24674683, 33294861
Scoliosis	Associate	37192015
Sertoli Cell Only Syndrome	Stimulate	34654477
Shock	Associate	24994498
Shock Septic	Associate	24994498
Silicosis	Stimulate	9177232
Skin Diseases	Associate	21673011
Skin Neoplasms	Associate	17938278
Small Cell Lung Carcinoma	Associate	19609729, 20345480, 33761685, 34621500
Small Cell Lung Carcinoma	Stimulate	28121629
Smoke Inhalation Injury	Stimulate	22978720
Smooth Muscle Tumor	Stimulate	36281932
Soft Tissue Neoplasms	Associate	16258259
Spinal Cord Injuries	Associate	37446303
Spondylitis Ankylosing	Associate	18854347, 29581970
Squamous Cell Carcinoma of Head and Neck	Stimulate	20186700, 22410369, 31745049, 39596132
Squamous Cell Carcinoma of Head and Neck	Associate	24175796, 24810160, 25337248, 26491674, 27312487, 30431092, 31304688, 32065407, 32865181, 33892811, 34977258, 36203528, 36510962, 37185487
Status Asthmaticus	Stimulate	20562127
Status Asthmaticus	Associate	22031818, 26035830
Stomach Diseases	Associate	25479069
Stomach Neoplasms	Associate	17148500, 18849546, 21406114, 23072570, 23289017, 24093889, 25172097, 25479069, 27997896, 32058995, 32590738, 32908877, 33015179, 33345281, 33542925, 33582701, 33788653, 34359989, 36842141, 37889539, 38041130, 40224213
Stomach Neoplasms	Stimulate	34126961
Stroke	Stimulate	30496210
Stroke	Associate	31530226
Synovitis	Associate	15761492, 19565503, 20533542, 40102843
Synovitis Pigmented Villonodular	Associate	16508983
Tertiary Lymphoid Structures	Associate	10880373
Thrombocytopenia	Associate	22131818
Thrombotic Microangiopathies	Associate	26568002
Thyroid Cancer Papillary	Associate	16203990, 18676742, 23867349, 25824779, 26749005, 27409830, 30274371, 32919020
Thyroid Diseases	Associate	23437160
Thyroid Neoplasms	Associate	27409830, 30069928
Thyroiditis	Associate	23437160
Thyroiditis Subacute	Associate	9177232
Tongue Neoplasms	Associate	33174521
Tuberculosis	Associate	10880373, 25378811, 29385060
Tuberculosis	Stimulate	26584297, 28025511
Tuberculosis Pulmonary	Stimulate	26584297
Tuberculosis Spinal	Associate	28376475
Tympanosclerosis	Stimulate	29068597
Typical Teratoid Rhabdoid Tumor	Stimulate	15776015
Urinary Bladder Neoplasms	Associate	21483670, 22895562, 28259975, 29209142
Urinary Calculi	Associate	17519954
Urinary Retention	Associate	16164641
Urolithiasis	Associate	23692545
Uterine Cervical Dysplasia	Associate	17987038, 36768853
Uterine Cervical Neoplasms	Associate	18210151, 18217980, 20609221, 22699784, 24403257, 25380749, 33829064, 34116656, 34295336, 34334630, 34498424, 36281082, 36973995
Uterine Cervicitis	Associate	25116355, 25372418, 34295336
Uveal melanoma	Associate	16505010
Vaginitis	Associate	40243431
Varicose Ulcer	Associate	25329616, 32360331
Varicose Veins	Inhibit	25329616
Vascular Calcification	Associate	11068982, 23151010, 35313524
Vascular Calcification	Inhibit	18178454
Vascular Calcification	Stimulate	28091516
Vascular Diseases	Associate	25329616
Vascular Remodeling	Associate	28446225
Vascular System Injuries	Associate	28091516
Ventricular Dysfunction Left	Stimulate	11959041
Vesico Ureteral Reflux	Associate	22080623
Vitiligo	Associate	19587696
Weight Gain	Associate	23692545
Weight Loss	Inhibit	17595250
Weight Loss	Associate	37738560
White Coat Hypertension	Associate	25860354
Xanthogranuloma Juvenile	Associate	18270430
Xanthogranulomatous sialadenitis	Associate	18270430