ACE (angiotensin I converting enzyme)

Gene

• Entrez ID: 1636
• Gene name: Angiotensin I converting enzyme
• Gene symbol: ACE
• Synonyms (NCBI Gene): ACE1, CD143, DCP, DCP1
• Chromosome: 17
• Chromosome location: 17q23.3
• Summary: This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulatin

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1799752	->TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT	Drug-response	Intron variant
rs121912703	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912704	C>A,G,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant, stop gained
rs367797185	C>T	Pathogenic, uncertain-significance	Stop gained, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs387906576	TGGA>-	Pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs397514688	C>T	Pathogenic	Stop gained, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs397514689	C>T	Pathogenic	Stop gained, coding sequence variant
rs761345398	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant
rs771053807	->GTTCCA	Likely-pathogenic	Upstream transcript variant, inframe insertion, genic upstream transcript variant, coding sequence variant
rs778390161	G>A	Likely-pathogenic	Splice acceptor variant
rs779188587	G>A,C	Likely-pathogenic	Splice donor variant, intron variant
rs779422412	C>T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs797045079	CTCGGGCCGCCGGGGGCCGG>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1357918249	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018383	hsa-miR-335-5p	Microarray	18185580
MIRT762467	hsa-miR-1324	CLIP-seq
MIRT762468	hsa-miR-148a	CLIP-seq
MIRT762469	hsa-miR-148b	CLIP-seq
MIRT762470	hsa-miR-152	CLIP-seq
MIRT762471	hsa-miR-4640-5p	CLIP-seq
MIRT762472	hsa-miR-4697-3p	CLIP-seq
MIRT762473	hsa-miR-4726-5p	CLIP-seq
MIRT762474	hsa-miR-520f	CLIP-seq
MIRT762475	hsa-miR-635	CLIP-seq
MIRT762476	hsa-miR-636	CLIP-seq
MIRT762477	hsa-miR-4436b-3p	CLIP-seq
MIRT762478	hsa-miR-4459	CLIP-seq
MIRT762479	hsa-miR-4716-3p	CLIP-seq
MIRT762480	hsa-miR-4722-5p	CLIP-seq
MIRT762481	hsa-miR-4728-5p	CLIP-seq
MIRT762482	hsa-miR-513a-3p	CLIP-seq
MIRT762483	hsa-miR-765	CLIP-seq
MIRT2165988	hsa-miR-1587	CLIP-seq
MIRT2165989	hsa-miR-4492	CLIP-seq
MIRT2165990	hsa-miR-4498	CLIP-seq
MIRT2165991	hsa-miR-4656	CLIP-seq
MIRT2165992	hsa-miR-4675	CLIP-seq
MIRT2165993	hsa-miR-4741	CLIP-seq
MIRT2165994	hsa-miR-762	CLIP-seq
MIRT2674220	hsa-miR-4290	CLIP-seq
MIRT2674221	hsa-miR-4685-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREM	Activation	8901568
EGR1	Activation	12433834
EGR1	Unknown	14679188
HIF1A	Activation	19592460
SP3	Unknown	14679188

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IMP	16116425
GO:0001974	Process	Blood vessel remodeling	IC	1668266
GO:0002003	Process	Angiotensin maturation	IC	1668266
GO:0002003	Process	Angiotensin maturation	TAS
GO:0002019	Process	Regulation of renal output by angiotensin	IC	1668266
GO:0002446	Process	Neutrophil mediated immunity	ISS
GO:0002474	Process	Antigen processing and presentation of peptide antigen via MHC class I	TAS	23257181
GO:0003081	Process	Regulation of systemic arterial blood pressure by renin-angiotensin	IBA	21873635
GO:0003081	Process	Regulation of systemic arterial blood pressure by renin-angiotensin	IC	1668266
GO:0003081	Process	Regulation of systemic arterial blood pressure by renin-angiotensin	IMP	174834
GO:0003084	Process	Positive regulation of systemic arterial blood pressure	IBA	21873635
GO:0004175	Function	Endopeptidase activity	IDA	15283675, 18495113
GO:0004180	Function	Carboxypeptidase activity	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IDA	1668266, 4322742, 15283675
GO:0005764	Component	Lysosome	IDA	11076943
GO:0005768	Component	Endosome	IDA	17077303
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	17077303
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	TAS	2554286
GO:0007283	Process	Spermatogenesis	ISS
GO:0008217	Process	Regulation of blood pressure	ISS	11303049
GO:0008237	Function	Metallopeptidase activity	IBA	21873635
GO:0008237	Function	Metallopeptidase activity	IDA	1320019, 1668266, 2849100, 17077303
GO:0008237	Function	Metallopeptidase activity	ISS
GO:0008237	Function	Metallopeptidase activity	TAS	2554286
GO:0008238	Function	Exopeptidase activity	IDA	2983326
GO:0008240	Function	Tripeptidyl-peptidase activity	IDA	2983326
GO:0008241	Function	Peptidyl-dipeptidase activity	IBA	21873635
GO:0008241	Function	Peptidyl-dipeptidase activity	IDA	1320019, 1668266, 1851160, 2849100, 6208535, 7683654, 7876104, 15283675, 17077303, 19773553
GO:0008241	Function	Peptidyl-dipeptidase activity	ISS	11303049
GO:0008241	Function	Peptidyl-dipeptidase activity	TAS	2554286
GO:0008270	Function	Zinc ion binding	IDA	12540854
GO:0009897	Component	External side of plasma membrane	IDA	9449382
GO:0010608	Process	Posttranscriptional regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0014910	Process	Regulation of smooth muscle cell migration	ISS
GO:0016021	Component	Integral component of membrane	IEA
GO:0019229	Process	Regulation of vasoconstriction	IC	1668266
GO:0031404	Function	Chloride ion binding	IDA	12540854
GO:0031434	Function	Mitogen-activated protein kinase kinase binding	IPI	14615289
GO:0031711	Function	Bradykinin receptor binding	IPI	17077303
GO:0032091	Process	Negative regulation of protein binding	IEA
GO:0032092	Process	Positive regulation of protein binding	IEA
GO:0032943	Process	Mononuclear cell proliferation	IC	7876104
GO:0042447	Process	Hormone catabolic process	IDA	7876104
GO:0042447	Process	Hormone catabolic process	ISS	11303049
GO:0043171	Process	Peptide catabolic process	IDA	4322742, 15283675
GO:0050435	Process	Amyloid-beta metabolic process	IDA	18495113, 19773553
GO:0050482	Process	Arachidonic acid secretion	IDA	17077303
GO:0051019	Function	Mitogen-activated protein kinase binding	IPI	14615289
GO:0060047	Process	Heart contraction	ISS
GO:0060177	Process	Regulation of angiotensin metabolic process	IDA	1851160
GO:0060218	Process	Hematopoietic stem cell differentiation	IC	7876104
GO:0061098	Process	Positive regulation of protein tyrosine kinase activity	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	15326289, 21082674
GO:0070573	Function	Metallodipeptidase activity	EXP	1848554, 1851160, 2846041, 20011602
GO:0071838	Process	Cell proliferation in bone marrow	ISS
GO:0097746	Process	Blood vessel diameter maintenance	IC	4322742
GO:1900086	Process	Positive regulation of peptidyl-tyrosine autophosphorylation	ISS
GO:1902033	Process	Regulation of hematopoietic stem cell proliferation	IC	7876104
GO:1902033	Process	Regulation of hematopoietic stem cell proliferation	ISS
GO:1903597	Process	Negative regulation of gap junction assembly	ISS
GO:2000170	Process	Positive regulation of peptidyl-cysteine S-nitrosylation	ISS

Other IDs

• MIM: 106180
• HGNC: 2707
• e!Ensembl: ENSG00000159640

Protein

• UniProt ID: P12821
• Protein name: Angiotensin-converting enzyme (ACE) (EC 3.4.15.1) (Dipeptidyl carboxypeptidase I) (Kininase II) (CD antigen CD143) [Cleaved into: Angiotensin-converting enzyme, soluble form]
• Protein function: Dipeptidyl carboxypeptidase that removes dipeptides from the C-terminus of a variety of circulating hormones, such as angiotensin I, bradykinin or enkephalins, thereby playing a key role in the regulation of blood pressure, electrolyte homeostas
• PDB: 1O86, 1O8A, 1UZE, 1UZF, 2C6F, 2C6N, 2IUL, 2IUX, 2OC2, 2XY9, 2XYD, 2YDM, 3BKK, 3BKL, 3L3N, 3NXQ, 4APH, 4APJ, 4BXK, 4BZR, 4BZS, 4C2N, 4C2O, 4C2P, 4C2Q, 4C2R, 4CA5, 4CA6, 4UFA, 4UFB, 5AM8, 5AM9, 5AMA, 5AMB, 5AMC, 6EN5, 6EN6, 6F9R, 6F9T, 6F9U, 6F9V, 6H5W, 6H5X, 6QS1, 6TT1, 6TT3, 6TT4, 6ZPQ, 6ZPT, 6ZPU, 7Q24
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01401	Peptidase_M2	40 → 623	Angiotensin-converting enzyme	Family
  PF01401	Peptidase_M2	643 → 1221	Angiotensin-converting enzyme	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. {ECO:0000269|PubMed:10924499, ECO:0000269|PubMed:10969042, ECO:0000269|PubMed:12459472, ECO:0000269|PubMed:15671045}.; TISSUE SPE
• Sequence:

  MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQV
  LFQSVAASWAHDTNITAENARRQEEAALLSQEFAEAWGQKAKELYEPIWQNFTDPQLRRI
  IGAVRTLGSANLPLAKRQQYNALLSNMSRIYSTAKVCLPNKTATCWSLDPDLTNILASSR
  SYAMLLFAWEGWHNAAGIPLKPLYEDFTALSNEAYKQDGFTDTGAYWRSWYNSPTFEDDL
  EHLYQQLEPLYLNLHAFVRRALHRRYGDRYINLRGPIPAHLLGDMWAQSWENIYDMVVPF
  PDKPNLDVTSTMLQQGWNATHMFRVAEEFFTSLELSPMPPEFWEGSMLEKPADGREVVCH
  ASAWDFYNRKDFRIKQCTRVTMDQLSTVHHEMGHIQYYLQYKDLPVSLRRGANPGFHEAI
  GDVLALSVSTPEHLHKIGLLDRVTNDTESDINYLLKMALEKIAFLPFGYLVDQWRWGVFS
  GRTPPSRYNFDWWYLRTKYQGICPPVTRNETHFDAGAKFHVPNVTPYIRYFVSFVLQFQF
  HEALCKEAGYEGPLHQCDIYRSTKAGAKLRKVLQAGSSRPWQEVLKDMVGLDALDAQPLL
  KYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGIDLVTDEAEASKFVEEYDRTS
  QVVWNEYAEANWNYNTNITTETSKILLQKNMQIANHTLKYGTQARKFDVNQLQNTTIKRI
  IKKVQDLERAALPAQELEEYNKILLDMETTYSVATVCHPNGSCLQLEPDLTNVMATSRKY
  EDLLWAWEGWRDKAGRAILQFYPKYVELINQAARLNGYVDAGDSWRSMYETPSLEQDLER
  LFQELQPLYLNLHAYVRRALHRHYGAQHINLEGPIPAHLLGNMWAQTWSNIYDLVVPFPS
  APSMDTTEAMLKQGWTPRRMFKEADDFFTSLGLLPVPPEFWNKSMLEKPTDGREVVCHAS
  AWDFYNGKDFRIKQCTTVNLEDLVVAHHEMGHIQYFMQYKDLPVALREGANPGFHEAIGD
  VLALSVSTPKHLHSLNLLSSEGGSDEHDINFLMKMALDKIAFIPFSYLVDQWRWRVFDGS
  ITKENYNQEWWSLRLKYQGLCPPVPRTQGDFDPGAKFHIPSSVPYIRYFVSFIIQFQFHE
  ALCQAAGHTGPLHKCDIYQSKEAGQRLATAMKLGFSRPWPEAMQLITGQPNMSASAMLSY
  FKPLLDWLRTENELHGEKLGWPQYNWTPNSARSEGPLPDSGRVSFLGLDLDAQQARVGQW
  LLLFLGIALLVATLGLSQRLFSIRHRSLHRHSHGPQFGSEVELRHS

• Sequence length: 1306

Pathways

KEGG:

Renin-angiotensin system
Renin secretion
Chagas disease
Coronavirus disease - COVID-19
Hypertrophic cardiomyopathy
Diabetic cardiomyopathy

Reactome:

Metabolism of Angiotensinogen to Angiotensins

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	21552421
Alzheimer disease	Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	30820047, 10643899, 9916793, 14872014, 17192785, 29777097
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	15331425
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	27082637
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	21552421
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	14989558
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	18059164
Gaucher disease	Gaucher Disease, Gaucher Disease, Type 2 (disorder), Gaucher Disease, Type 3 (disorder), Gaucher Disease, Type 1	rs121908295, rs79653797, rs80356769, rs1064651, rs77369218, rs80356771, rs77829017, rs74500255, rs381737, rs387906315, rs121908310, rs121908298, rs76539814, rs397518433, rs121908299, rs75822236, rs121908302, rs364897, rs121908303, rs121908304, rs121908305, rs121908306, rs121908307, rs1141814, rs397518434, rs121908308, rs74598136, rs78198234, rs121908309, rs121908311, rs78973108, rs80356763, rs121908312, rs121908313, rs121908314, rs1571964338, rs121918105, rs121918106, rs121918108, rs121918109, rs121918110, rs80356772, rs1064644, rs439898, rs104886460, rs398123527, rs398123528, rs421016, rs398123530, rs398123532, rs61748906, rs381418, rs409652, rs80356768, rs794727908, rs747506979, rs878853317, rs878853320, rs878853315, rs878853321, rs878853314, rs1553217946, rs1553333346, rs1553217314, rs1553217879, rs1553217009, rs1553217294, rs1553216985, rs149171124, rs1553217626, rs772548282, rs1557901325, rs754743440, rs773409311, rs867929413, rs749714463, rs79796061, rs1237637353, rs761621516, rs1571969643, rs755265316, rs1571965880, rs765633380, rs1671890998	12359135
Glomerulonephritis	IGA Glomerulonephritis	rs778043831	7593601, 9259580
Glycogen storage disease	Glycogen Storage Disease Type V	rs10250779, rs387906244, rs113994126, rs113994129, rs113994134, rs369973784, rs199922945, rs118203964, rs113994132, rs387906246, rs113994128, rs267606639, rs267606640, rs755419857, rs895690691, rs121918193, rs121918195, rs121918196, rs116987552, rs119103251, rs119103252, rs119103253, rs119103254, rs144081869, rs119103255, rs786200874, rs267606993, rs119103257, rs119103258, rs119103259, rs119103260, rs1474863903, rs764313717, rs397515342, rs80338671, rs137852886, rs80338672, rs137852888, rs80338673, rs397515343, rs137852889, rs137852890, rs137852891, rs1575782181, rs137852892, rs397515344, rs137852894, rs121907936, rs121907937, rs28937909, rs121907938, rs121907940, rs121907941, rs386834236, rs121907939, rs28940868, rs1555603048, rs121907942, rs386834235, rs121907943, rs121907945, rs121908987, rs121908991, rs267606977, rs137852546, rs137852547, rs1603266754, rs137852548, rs137852528, rs137852529, rs431905501, rs137852531, rs137852532, rs137852533, rs137852535, rs137852536, rs137852537, rs137852538, rs431905503, rs137852539, rs137852285, rs137852286, rs587776731, rs137852287, rs137852288, rs587776732, rs137852293, rs137852289, rs137852290, rs137852291, rs137852292, rs137852294, rs587776733, rs2147483647, rs137852295, rs113993982, rs113993974, rs113993977, rs113993981, rs80356488, rs1801175, rs104894563, rs80356487, rs104894566, rs587776757, rs80356484, rs104894565, rs104894567, rs104894568, rs104894569, rs80356482, rs1801176, rs104894571, rs34667348, rs797044442, rs121918021, rs137853588, rs137853589, rs137853590, rs1596680941, rs137853591, rs137853592, rs121918419, rs587776831, rs121918420, rs121918421, rs121918422, rs121918423, rs121918424, rs121434584, rs80356485, rs80356479, rs80356483, rs113994130, rs113994131, rs113993978, rs113993979, rs113993986, rs113993973, rs113993975, rs387906505, rs113993976, rs199948078, rs193922697, rs397514631, rs1325298827, rs140869027, rs398123169, rs398123171, rs398123172, rs369532274, rs398123173, rs398123174, rs398124208, rs398124209, rs398124210, rs587777375, rs527236146, rs527236147, rs370652040, rs143137713, rs727502871, rs369531647, rs730880022, rs730880372, rs201958741, rs730882148, rs796051877, rs752921215, rs786204489, rs781580050, rs771961377, rs370792293, rs786204678, rs786204616, rs786204481, rs786204490, rs776977863, rs786204595, rs786204655, rs769960481, rs767739769, rs786204723, rs755117847, rs764920787, rs780226142, rs367727229, rs786204467, rs201185475, rs786204614, rs786204661, rs767882689, rs528367092, rs370950728, rs757700700, rs786204532, rs201896815, rs543300039, rs786204507, rs786204646, rs786204517, rs770610356, rs770276275, rs147804176, rs772883420, rs140826989, rs786204720, rs786204727, rs781088002, rs549029029, rs368438393, rs536906561, rs374143224, rs757111744, rs786204621, rs786204645, rs786204549, rs780321415, rs786204561, rs202143236, rs786204785, rs374470794, rs771427957, rs150547274, rs113994127, rs193186112, rs794727706, rs794729208, rs797045008, rs192044702, rs797044877, rs150382575, rs201157731, rs863224023, rs869312919, rs764622267, rs878855017, rs1800312, rs886039883, rs886041476, rs779556619, rs757617999, rs143523371, rs886042086, rs201201443, rs886042358, rs761317813, rs142752477, rs142967546, rs766074609, rs770590394, rs144016984, rs886043148, rs778032599, rs886043343, rs886043399, rs886043920, rs775450536, rs755253527, rs758004953, rs766935302, rs886058900, rs1057516189, rs1057516870, rs1057517057, rs1057516567, rs1057517347, rs1057517243, rs777857395, rs1057516868, rs757967016, rs1057516308, rs1057517344, rs1057516397, rs1057516471, rs748789700, rs763554006, rs1057516741, rs1057516948, rs1057516913, rs1057516570, rs1057516563, rs1057516708, rs1057516666, rs1057517136, rs1057517425, rs1057516984, rs1057516254, rs531425980, rs1057516793, rs1057516306, rs1057516952, rs1057516513, rs1057517079, rs764318570, rs1057517017, rs867341758, rs745757264, rs1057517405, rs1057516994, rs1057517315, rs1057516529, rs1057517001, rs1057517058, rs1057517067, rs1057516598, rs753181427, rs1057517442, rs747513238, rs752848974, rs1057516259, rs1057516612, rs749560316, rs1057516468, rs1057517400, rs752851284, rs1057516329, rs1057516629, rs1057517145, rs1057517361, rs1057516349, rs772194378, rs1057516367, rs1057517227, rs1057516674, rs1057517008, rs1057516630, rs749323139, rs1057516858, rs80356486, rs1055945806, rs1057516251, rs1057517165, rs1057516503, rs1057517381, rs1057517320, rs376229714, rs1057516600, rs762260678, rs1057516290, rs1057516785, rs1057516520, rs757458607, rs1057516546, rs1057517286, rs1057516215, rs560575383, rs747610090, rs892129065, rs1057517267, rs1057516426, rs377544304, rs1057516826, rs1057517105, rs753269119, rs778418246, rs1057516928, rs1057516581, rs1057516327, rs1057516328, rs1057516277, rs1057516363, rs777275355, rs1057516924, rs1057517148, rs1057516704, rs1057516341, rs763359208, rs1057518106, rs780883601, rs775685508, rs751952198, rs148842275, rs766733439, rs1064795728, rs1064795749, rs1064796703, rs1064794288, rs375470378, rs1064796706, rs1064797157, rs764567774, rs145166656, rs767409395, rs150911354, rs757681143, rs200483245, rs771069887, rs114073621, rs1553690406, rs774465102, rs758504480, rs143670942, rs1422043936, rs373517016, rs1553188832, rs771853367, rs1553185403, rs12118058, rs1553193463, rs370247862, rs1555602832, rs1555560204, rs1555603264, rs61736895, rs763016962, rs1556016365, rs1555601828, rs991082382, rs1555599713, rs1555136390, rs754134578, rs752002666, rs1553183220, rs1307281520, rs1479740763, rs1555989523, rs1555600102, rs142917638, rs1553185302, rs1553684545, rs1555601234, rs373345919, rs1553183359, rs1556014969, rs760589837, rs776733170, rs1553185474, rs1553186489, rs757987101, rs140095668, rs1188310172, rs1555467052, rs1555467557, rs748363083, rs763027848, rs1555600730, rs1555598796, rs1555988479, rs1556000892, rs1556007472, rs1556002344, rs764591009, rs769172044, rs1555328280, rs1354714214, rs1553183148, rs930434905, rs751112302, rs878959417, rs775498547, rs1443902661, rs1553192718, rs1293077915, rs1553193529, rs1553181400, rs1215043175, rs1553185418, rs1553185883, rs1553183178, rs1553186577, rs1553188559, rs750492389, rs1553188849, rs1432024176, rs1289339080, rs767346840, rs1553190751, rs1553184620, rs755747010, rs1553193486, rs1553184657, rs1327892944, rs1553187237, rs1553185905, rs1553193530, rs1553186613, rs1553187957, rs773095419, rs1553189468, rs1185321132, rs770438130, rs1553190316, rs1555133248, rs1462767117, rs1555136752, rs1163710370, rs1555136208, rs1555136540, rs750857876, rs1555136459, rs187131358, rs1555559741, rs1411037881, rs1485038937, rs1555598687, rs1555598880, rs1555599171, rs1555599586, rs1555599637, rs1555598869, rs1555599644, rs1555599594, rs1555599619, rs1555600050, rs1555599960, rs766680292, rs1555600166, rs996798292, rs1555600575, rs770780848, rs1555601780, rs765362308, rs1209887739, rs1555603216, rs1428358278, rs776948121, rs1555601662, rs1555603131, rs192679574, rs1555559279, rs1189630738, rs1555559991, rs1555560140, rs1555560185, rs1555598460, rs1555598544, rs1555598824, rs1555600111, rs778068209, rs1555600846, rs747150965, rs753505203, rs914396317, rs1555602692, rs1344266804, rs1555558920, rs1457925404, rs1555598800, rs1207988953, rs1555599667, rs1555600061, rs1434761678, rs759518659, rs1555601802, rs1555602703, rs1555602860, rs1555603434, rs1555995635, rs1567825175, rs1567705064, rs1567838823, rs1559637815, rs1557794150, rs756175624, rs146195866, rs781511110, rs759657964, rs1563131309, rs746120293, rs746348793, rs770037766, rs1270523244, rs1567706564, rs1567260747, rs201056962, rs764539267, rs765718882, rs1568619900, rs1569298646, rs1569344469, rs1567828977, rs561646250, rs1569297379, rs1210626722, rs1569300538, rs1256371424, rs747947171, rs1565538121, rs1565536363, rs1569297427, rs1567830317, rs764750389, rs1555603219, rs1567829962, rs1430517061, rs1205507761, rs149244943, rs748262135, rs1556299510, rs780246932, rs752961445, rs1315020035, rs767095759, rs756205397, rs149096315, rs1242540921, rs371296953, rs1303617854, rs766536350, rs1414146587, rs1567835775, rs1567835781, rs1570433472, rs1570508240, rs763216519, rs1598585402, rs1598578030, rs1598581682, rs1592412131, rs1571232214, rs1571232404, rs1571243699, rs1570433686, rs1570438459, rs765367405, rs1206517501, rs1239498701, rs774926455, rs1480850606, rs777589783, rs768604948, rs1592410003, rs1592818641, rs760187622, rs539898848, rs755612674, rs1597988331, rs775826449, rs1232001857, rs200210219, rs1598575231, rs141533320, rs1598582021, rs764670084, rs1448515860, rs886043882, rs1601685358, rs1601689006, rs1601739229, rs1601781024, rs1601781031, rs539203557, rs1212333772, rs372079212, rs765425704, rs776545903, rs1597989985, rs1598592604, rs1597989983, rs1556257317, rs1475559733, rs1598577666, rs1598580364, rs1596687577, rs1372753669, rs1601714299, rs1601747985, rs1601776276, rs1601760689, rs1601763099, rs1571232325, rs1570445130, rs370202718, rs1570487381, rs1576183537, rs1592408302, rs1592409633, rs150483902, rs1596687555, rs762089284, rs1597990895, rs1597990906, rs1597991608, rs1597991733, rs1601687244, rs1601748216, rs1601776523, rs1571243862, rs1592409631, rs1601780766, rs2039275157, rs2039287628, rs1567702823, rs756632286, rs1597990921, rs1576137368, rs1322527832, rs1596047883, rs1650040391, rs780694207, rs758182700, rs1652018859, rs1652879873, rs1654912428, rs1703086906, rs781198373, rs1703800818, rs1490328834, rs1804721948, rs1311913891, rs2058363627, rs1005687078, rs2058388882, rs2058407169, rs2058421657, rs138893744, rs758943884, rs2056023296, rs1401928680, rs764401169, rs2056091436, rs915675670, rs2039038743, rs2039117815, rs2039190879, rs2039192386, rs2039213824, rs766398206, rs2039287852, rs2047467477, rs2047492649, rs2047492720, rs765360653, rs111911126, rs1219299972, rs2047834385, rs2039261208, rs1262967083, rs2047514376, rs2048391185, rs2058357329, rs1598580407, rs2039250790, rs755305465, rs766448695	12666117
Hypertension	Hypertensive disease	rs13306026	27847271, 20237592, 15773232
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	8642790
Left ventricular hypertrophy	Left Ventricular Hypertrophy	rs397516037	8349331
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	21552421
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17465223
Renal insufficiency	Renal Insufficiency	rs1596536873	9259580
Renal tubular dysgenesis of genetic origin	Renal tubular dysgenesis of genetic origin	rs121917741, rs121917742, rs121912704, rs387906576, rs387906577, rs104893677, rs74315283, rs121912702, rs387906578, rs398122935, rs397514687, rs397514688, rs397514689, rs397514690, rs397514691, rs797045079, rs367797185, rs778390161, rs747815674, rs779188587
Schizophrenia	Schizophrenia, Chronic schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21158679, 25694211, 20010451, 24615782

Unknown
Disease term	Disease name	Evidence	References	Source
Celiac disease	Celiac Disease		30097691	ClinVar
Pulmonary hypoplasia	Congenital hypoplasia of lung			ClinVar
Congestive heart failure	Congestive heart failure		18586661	ClinVar
Coronary heart disease	Coronary heart disease		8170965	ClinVar
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided		18586661	ClinVar
Mental depression	Depressive disorder, Unipolar Depression, Major Depressive Disorder		25694211, 22808171, 22688325	ClinVar
Myocardial infarction	Myocardial Infarction, Myocardial Failure		1328889, 8131300, 18586661	ClinVar
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation		15331425	ClinVar
Diabetes	Diabetes			GWAS
Dementia	Dementia			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	35190362
Acute Coronary Syndrome	Associate	11527624, 15012913, 22333273, 31195108, 9364295
Acute Disease	Associate	18433037, 18702808
Acute Kidney Injury	Associate	11918733
Acute Kidney Injury	Stimulate	30973904
Acute Lung Injury	Associate	18950526, 19021774, 21742477
Adenoma	Associate	17898867
Albuminuria	Associate	18622495, 8806248, 9551410
Alzheimer Disease	Associate	10567488, 10978362, 11015454, 11501342, 16642441, 20121884, 21297258, 24679048, 26884824, 27546928, 28099631, 34937778, 35011591, 39378208, 39794838
Androgen Insensitivity Syndrome	Stimulate	11300459
Anemia	Associate	18156303
Anemia Sickle Cell	Associate	17393952
Aneurysm	Associate	10882751, 15858940, 22245237
Aneurysm Ruptured	Associate	10882751
Angina Pectoris	Associate	10747309, 9364295
Angina Stable	Associate	11451295
Angina Unstable	Associate	11451295, 9364295
Angina Unstable	Stimulate	28281389
Angioedema	Associate	18025295
Anterior Wall Myocardial Infarction	Associate	10486698, 12484511, 15671615, 22333273, 7759715
Aortic Aneurysm	Associate	21570325, 27858843
Aortic Aneurysm Abdominal	Associate	11352521, 15694792, 21570325, 23348634
Aortic Aneurysm Familial Abdominal 1	Associate	11352521
Aortic Aneurysm Thoracic	Associate	22245237, 25120286, 25237166
Aortic Dissection	Associate	19713682, 25237166
Arrest of spermatogenesis	Associate	31006710
Arrhythmias Cardiac	Associate	11446493, 19716087, 24389577, 32555355
Arrhythmogenic Right Ventricular Dysplasia	Associate	19126662
Arterial Occlusive Diseases	Associate	17393952
Arterio Arterial Fistula	Associate	27240348
Arteriosclerosis	Associate	21127137
Arteriovenous Fistula	Associate	21332339
Arthritis Sacroiliac	Associate	22876137
Atherosclerosis	Associate	10747309, 11079661, 12484511, 14757856, 15964916, 17298481, 19021774, 21127137, 22456784, 24452940, 26735603, 27858843, 28186543, 31370787, 34747787
Atrial Fibrillation	Associate	10807475, 17556195, 18037749, 19648063, 21436211, 24270955, 27179719
Autistic Disorder	Associate	27082637
Autoimmune Diseases	Associate	10672133
Azoospermia	Associate	31198195
Behcet Syndrome	Associate	15961928, 24188936
Bicuspid Aortic Valve Disease	Associate	22245237
Bipolar Disorder	Associate	35606706
Bisphosphonate Associated Osteonecrosis of the Jaw	Associate	30804141
Body Dysmorphic Disorders	Associate	23702088
Brain Ischemia	Associate	9180106
Breast Diseases	Associate	21109584
Breast Neoplasms	Associate	17023764, 19286759, 25077884, 31642813
Bronchopulmonary Dysplasia	Associate	21960125
Cachexia	Associate	27897403
Calcinosis	Associate	15655270, 9561998
Carcinogenesis	Associate	18020099, 18630525, 21928698, 22064901
Carcinoma Basal Cell	Stimulate	24203630
Carcinoma Hepatocellular	Associate	15897638, 23006961, 23570557, 25208933, 25591763, 25945007
Carcinoma Non Small Cell Lung	Associate	18156303, 23334061
Carcinoma Ovarian Epithelial	Associate	22571796
Carcinoma Pancreatic Ductal	Associate	19212105
Carcinoma Renal Cell	Associate	28809959, 33916968, 9708474
Carcinoma Squamous Cell	Associate	24203630
Cardiomegaly	Associate	12675870
Cardiomyopathies	Associate	19390744, 23199721, 29455790, 32638886
Cardiomyopathy Dilated	Stimulate	15151696, 25869724
Cardiomyopathy Dilated	Associate	7759715
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	20975235, 8752809
Cardiomyopathy Hypertrophic	Associate	16614502, 18037749, 19390744, 20478904, 20975235
Cardiomyopathy Right Ventricular Dilated	Associate	7759715
Cardiovascular Abnormalities	Associate	12898464
Cardiovascular Diseases	Associate	10484574, 10520809, 10652033, 10794598, 10916115, 11401071, 12692750, 12733698, 12898464, 12938141, 15012913, 15635071, 15964916, 17556195, 18037749, 18946466, 19221299, 19713682, 20449805, 21038299, 21127137, 21273224, 21614448, 22456784, 22679279, 22808171, 23055331, 23469169, 23609427, 24679048, 25237166, 25577762, 26125265, 26458572, 27030424, 28973758, 29058472, 29455790, 31042763, 32882331, 34930451, 35011591, 8533773, 8598840, 9708474
Carotid Artery Diseases	Associate	12484511, 17298481, 20134102, 21127137, 9678776
Carotid Stenosis	Associate	19369957, 21127137
Cerebral Hemorrhage	Associate	21339657
Cerebral Infarction	Associate	14641479, 16775386, 18387982, 21421656, 22333273, 32683396, 34087973, 34747787
Cerebral Infarction	Stimulate	26710338
Cerebrovascular Disorders	Associate	22723444, 34747787
Chagas Cardiomyopathy	Associate	19268079
Chagas Disease	Associate	32638886
Charcot Marie Tooth Disease Dominant Intermediate B	Associate	16395257, 27812677, 32442362, 34603503, 9607207
Charcot Marie Tooth disease Type 1D	Associate	10916115, 23077078
Chromosome Deletion	Associate	19037561, 24270863
Chronic Disease	Associate	18702808, 20524904, 22456784
Chronic Kidney Disease Mineral and Bone Disorder	Associate	23348634, 32756181
Chronic Kidney Disease Mineral and Bone Disorder	Stimulate	28186543
Chronic Pain	Associate	17393952
Cognitive Dysfunction	Associate	35011591
Colorectal Neoplasms	Associate	17898867, 29032382, 31203648, 35113855
Constriction Pathologic	Associate	22333273, 27858843
Coronary Artery Disease	Associate	10636265, 10794598, 10803441, 11665795, 12798565, 12975417, 15858940, 22245237, 22307319, 22679279, 24505095, 24913112, 25501306, 27812677, 27895197, 28086795, 28196432, 32367400, 32584014, 34975123, 8541160, 8752809, 9264004, 9377825, 9561998
Coronary Disease	Associate	10747309, 11501342, 15635071, 16088850, 25342476, 37679988, 8170965, 9034401, 9561998, 9844142
Coronary Restenosis	Associate	11665795, 11691520, 12205735, 12798565, 16272779, 28196432
Coronary Stenosis	Associate	22679279, 9377825
Coronary Vasospasm	Associate	8675669
Cough	Associate	24803075, 35352885, 9059468
COVID 19	Associate	32348166, 32628976, 32755325, 32758871, 32882331, 32899439, 32901433, 32905897, 33049061, 33197472, 33349849, 33458761, 33525415, 33676010, 33957095, 34085542, 34359878, 34411004, 34441050, 34489863, 34603503, 34708878, 34774774, 35190362, 35305693, 35607951, 35623072, 35885894, 36126762, 36255490, 36443248, 36511187, 36593047, 36672770, 36876951, 37029023, 37108839, 37328914, 37432962, 37667339, 37894561, 38200555, 38367677, 40076720
COVID 19	Stimulate	35321977
Critical Illness	Associate	35250987, 36876951
Crohn Disease	Associate	17427637, 26823847
Cushing Syndrome	Associate	24101265
Cystic Fibrosis	Associate	17163998
Death	Associate	12628714, 17107992, 36672770, 37432962, 8083349
Death Sudden Cardiac	Associate	11446493, 19716087, 22333273, 29982608, 9825196
Depressive Disorder	Associate	15927090, 22808171, 24193727, 28127518, 32367400, 36293037
Depressive Disorder Major	Associate	22808171
Dermatitis Allergic Contact	Associate	17651310
Dermatomyositis	Associate	24591530
Diabetes Gestational	Associate	24189507
Diabetes Mellitus	Associate	10747309, 12081578, 12449516, 16088850, 19021774, 20134102, 20215707, 21421653, 22144991, 23042814, 23594830, 27748299, 33676010, 34489863, 35305693, 37432962, 8995725, 9607207, 9844142
Diabetes Mellitus Type 1	Associate	15830186, 23833037, 35988927, 7783416, 8995725, 9509566
Diabetes Mellitus Type 1	Stimulate	35260304
Diabetes Mellitus Type 2	Associate	12449516, 12964504, 14599112, 16395257, 18199798, 19126661, 19286757, 19502259, 20134102, 20305326, 22554825, 22679279, 23447104, 23468166, 24452036, 24505095, 26458572, 26982073, 28835639, 29694640, 33507688, 34489863, 36834424, 8170965, 8840299, 9264004, 9509566
Diabetic Nephropathies	Associate	10652041, 12081578, 16385653, 16612410, 17653210, 19034303, 22554825, 23833037, 27638852, 32901433, 36460431, 7783416, 8806248, 8854649, 9264004, 9509566, 9551410, 9844142
Diabetic Neuropathies	Associate	24452036
Diabetic Retinopathy	Associate	16385653, 24452036, 26658948
Diastrophic dysplasia	Associate	10620209, 10652033, 10916115, 11168787, 11446493, 11527624, 11665795, 11893827, 12371972, 12628714, 12906984, 14718831, 15462112, 16247204, 16385653, 18199798, 18702808, 19126661, 19502257, 21332339, 22017506, 22144991, 23661462, 23847294, 24098401, 24188936, 30666042, 7759716, 8083349, 8541160, 8752809, 8800107, 9014990, 9083287, 9291178, 9364295, 9561998, 9607207
Diastrophic dysplasia	Stimulate	11345361, 17023764, 17487825, 21162760, 21928698, 23199721, 26440392, 35190362, 8854649
Diastrophic dysplasia	Inhibit	34708878
Disease	Associate	11665795, 27030424
Drug Related Side Effects and Adverse Reactions	Associate	26177100
Dyslipidemias	Associate	22144991, 34489863
Embolic Stroke	Associate	32683396
Endocarditis	Associate	21546583
Erectile Dysfunction	Associate	15292102, 17889866
Erythema Nodosum	Associate	10362030
Esophageal Neoplasms	Associate	15798469
Essential Hypertension	Associate	10642347, 10652033, 10888379, 12135330, 12169209, 12371972, 12611423, 17190732, 17546276, 19126661, 23741507, 24015270, 24270955, 24354906, 25002132, 25357227, 25511213, 26283679, 27030424, 29172745, 29546999, 30307755, 33275245, 36355860, 37091860, 37200278, 9008252, 9607178, 9607207
Failed Back Surgery Syndrome	Associate	15151696
Familial Mediterranean Fever	Associate	29891744
Fetal Growth Retardation	Associate	20524904
Fibrosis	Associate	10807475, 15655270, 19126662, 32901433
Gastritis Atrophic	Associate	21864388
Gastroesophageal Reflux	Associate	20723722
Gaucher Disease	Associate	20696071, 29478818
Glaucoma	Associate	33396443
Glaucoma Related Pigment Dispersion Syndrome	Associate	18364271, 20478904
Glioma	Associate	25143323, 31312309
Glomerulonephritis IGA	Associate	19037561, 24452035, 34717572, 34867085, 7593601
Glomerulonephritis Membranous	Associate	12969126
Glomerulosclerosis Focal Segmental	Associate	16421456
Glucose Intolerance	Associate	18622495, 28835639
Glucosephosphate Dehydrogenase Deficiency	Associate	22571796
Glycogen Storage Disease Type II	Associate	20308911, 30532252, 34734785
Glycosuria Renal	Associate	18199798
Granuloma	Associate	17427637, 29478818
Granuloma Giant Cell	Associate	26234235
Heart Defects Congenital	Associate	28865601
Heart Diseases	Associate	19502257, 19648063, 20189663, 20364047, 20975235, 24389577, 7756072, 8083349
Heart Failure	Associate	11401115, 15012913, 15012914, 15012915, 16247204, 18279468, 18516385, 20189663, 20975611, 21162760, 24270863, 25869724, 26633885, 27812677, 28977050, 33926172, 34359878, 7682566, 8752809
Heart Failure	Stimulate	20364047, 8040271
Heart Failure Diastolic	Associate	28513230
Helicobacter Infections	Associate	28746216
Hemolytic Uremic Syndrome	Stimulate	28186543
Hemolytic Uremic Syndrome	Associate	9690230
Hepatitis C Chronic	Associate	15897638, 29641775
Histiocytosis Langerhans Cell	Associate	10975922
Hodgkin Disease	Associate	18020099
Hypercholesterolemia	Associate	25342476, 32882331
Hyperkinesis	Associate	24193727
Hyperplasia	Associate	11665795, 12205735
Hypertension	Associate	10487323, 10487325, 10888379, 11409653, 11728946, 12135330, 12484507, 12628714, 12675870, 15012913, 15080371, 15097233, 15543563, 15964916, 16088850, 16385653, 16509973, 17298481, 17334527, 17672913, 18550936, 18647135, 18698212, 18758497, 18946466, 19119484, 19126660, 19126661, 19369957, 21063039, 21248783, 21421653, 21436208, 22136292, 22144991, 22245237, 22419662, 22456784, 22723444, 22808171, 23042814, 23741507, 24015270, 24098401, 24150610, 24354906, 24505095, 25000107, 25002132, 25357227, 26297704, 26440392, 26491214, 27030424, 27050505, 27748299, 27754586, 27858843, 28834200, 29058472, 29939946, 30226856, 30804141, 30875817, 32348166, 32519825, 32882331, 32901433, 33676010, 34156316, 34359878, 34489863, 34747787, 36011305, 36355860, 37200278, 37432962, 37667339, 40090707, 40127414, 8083349, 8541160, 9034402, 9264004, 9605383, 9607207, 9708474
Hypertension	Stimulate	29923443, 31484569
Hypertension Diastolic Resistance to	Associate	17487825
Hypertension Malignant	Associate	10855732, 15655381
Hypertension Pregnancy Induced	Associate	16167906
Hypertension Pulmonary	Associate	12692750, 12832683, 16936432, 19592460
Hypertensive Retinopathy	Associate	12449516
Hypertrichosis congenital generalized X linked	Associate	24270863
Hypertrophy	Associate	10888379, 30694603, 7759715
Hypertrophy Left Ventricular	Associate	10888379, 10916115, 10941550, 12628714, 12675870, 12906984, 15788353, 16222898, 26336879, 28513230, 31064975, 40090707, 8177269, 8598840, 8752809, 9014990, 9083287, 9607207
Hypoalbuminemia	Associate	15798469
Hypopituitarism	Associate	27425780
Hypotension	Inhibit	18433037
Hypotension	Associate	22136292
Hypoxia	Associate	15819995
IgA Vasculitis	Associate	10193250
Infarction	Associate	8541160, 9180106
Infections	Associate	25796077, 33957095
Inflammation	Associate	17651310, 20975611, 21127137, 21928698, 23348634, 26177100, 31042763, 32024452, 32348166, 32901433, 33025652, 34441050
Insulin Resistance	Associate	10487323, 20170341, 22419662, 23461768
Intracranial Aneurysm	Associate	23847294
Iron Overload	Associate	12692750
Ischemic Stroke	Associate	34747787, 37204128
Job Syndrome	Stimulate	3041080
Kidney Diseases	Associate	10620209, 10682664, 10983692, 11422735, 12449516, 15793268, 16221224, 17601378, 19021774, 20540812, 21421653, 22017506, 24241364, 9509566, 9607207
Kidney Failure Chronic	Associate	10916074, 11422735, 11918733, 12675870, 16385653, 16525944, 17601378, 18199798, 21421653, 23477970, 24977181, 26440392, 9291178
Kidney Neoplasms	Associate	10682664
Laryngeal Neoplasms	Associate	27801393, 36860147
Left Right Axis Malformations	Associate	23055331
Leukemia	Associate	18807213
Leukemia Lymphocytic Chronic B Cell	Stimulate	19761684
Leukoaraiosis	Associate	11861692
Liver Cirrhosis	Associate	19119484, 25208933, 26681055
Long QT Syndrome	Associate	17186976
Long QT Syndrome	Stimulate	18364271
Lung Diseases	Associate	15798469, 21960125, 35305693
Lung Diseases Interstitial	Associate	8736208
Lung Injury	Associate	15798469, 33676010
Lung Neoplasms	Inhibit	31877149
Lupus Erythematosus Systemic	Associate	20540812, 23448612
Lymphangioleiomyomatosis	Associate	16474096
Lymphatic Metastasis	Associate	16435992, 18059164, 27801393, 29032382, 36860147
Lymphoblastic Transformation Inhibition of	Associate	11821634
Lymphoma	Associate	18020099
Malaria	Associate	38367677
MASS syndrome	Associate	30666042, 9014990
Mental Disorders	Associate	28099631, 35606706
Metabolic Diseases	Associate	29058472
Metabolic Syndrome	Associate	20305326, 26910623
Mitral Valve Insufficiency	Inhibit	30581499
Mucocutaneous Lymph Node Syndrome	Associate	16614502
Multiple Sclerosis	Associate	28127518
Muscular Diseases	Associate	24556825, 37862321
Muscular Dystrophy Emery Dreifuss	Associate	35011591
Myalgia	Associate	20308911
Myocardial Infarction	Associate	10484574, 10794598, 11446493, 11994975, 12628714, 12798565, 15119966, 18445609, 18946466, 19502257, 20230274, 20730398, 21162760, 21330421, 22333273, 22392878, 22456784, 22679279, 22808171, 24806378, 29268798, 37657040, 7759715, 8083349, 8170965, 8541160, 8675669, 8752809, 8800107, 9060882, 9180106, 9364295, 9377825, 9525548, 9561998
Myocardial Ischemia	Associate	16614502, 7854377, 9180106, 9825196
Myotonic Dystrophy	Associate	14599112, 34889890
Neoplasm Metastasis	Associate	15897638, 17465223, 36860147
Neoplasm Metastasis	Stimulate	18059164
Neoplasms	Associate	17023764, 17898867, 18020099, 18181094, 18210757, 19126662, 19212105, 19286759, 21928698, 23006961, 23570557, 24101265, 25143323, 25208933, 25735342, 26234235, 27801393, 31203648, 31312309, 31642813, 31877149, 33513805, 34799866, 35113855
Neoplasms	Stimulate	18059164
Neoplasms Adipose Tissue	Associate	29939946
Neoplastic Syndromes Hereditary	Associate	31922211
Nephritis	Associate	17601378, 24463829
Nephronophthisis 3	Associate	31922211
Nephrosis congenital	Associate	16421456
Nephrosis Lipoid	Associate	16421456, 22017506
Nephrotic Syndrome	Associate	16421456, 16525944, 20418353
Non ST Elevated Myocardial Infarction	Associate	31195108
Obesity	Associate	12898464, 15919834, 16088850, 16222048, 18046090, 19680237, 22880127, 23042814, 26491214, 28096099, 29546999, 32121233, 32356512, 32398726
Obesity	Stimulate	29115082
Obsessive Compulsive Disorder	Associate	35606706
Oculocutaneous albinism type 2	Associate	15462112, 20305326, 27812677, 35190362, 9607207
Oculocutaneous albinism type 2	Stimulate	23661462
Odontogenic Cyst Calcifying	Associate	9561998
Optic Neuropathy Ischemic	Associate	11250978, 21633717
Organizing Pneumonia	Associate	10487325, 10652033, 23560051, 26336879, 32901433
Osteoarthritis	Associate	23089924, 25178458, 26261641
Osteoarthritis Knee	Associate	25178458
Osteoporosis	Associate	33499313
Ovarian Diseases	Associate	9156148
Overweight	Associate	32398726
Pain	Associate	17393952
Panic Disorder	Associate	22353325
Parkinson Disease	Associate	11015454
Peripheral Arterial Disease	Associate	19782519, 22144991
Personality Disorders	Associate	34799866
Pituitary Neoplasms	Associate	24101265
Plaque Atherosclerotic	Associate	9561998
Pleural Effusion	Associate	20723722
Pneumonia	Associate	15381116, 28403117, 34603503, 35836993
Polycystic Kidney Autosomal Dominant	Associate	27748299
Polycystic Kidney Diseases	Associate	9291178
Polycystic Ovary Syndrome	Associate	20170341, 23461768, 31814467
Polycythemia	Associate	36856520
Polycythemia Vera	Associate	36856520
Polyneuropathies	Associate	12449516
Post Acute COVID 19 Syndrome	Associate	37108839, 40076720
Postural Orthostatic Tachycardia Syndrome	Associate	34734785
Pre Eclampsia	Associate	19717502, 33241696, 33456632, 35997304, 7744780
Precancerous Conditions	Associate	16136034
Preeclamptic toxemia	Associate	35997304, 7744780
Pressure Ulcer	Associate	22136292, 28096099, 29546999, 34930451, 37200278
Prostatic Hyperplasia	Associate	20026870
Prostatic Neoplasms	Associate	17465223, 20026870, 29970692, 34799866
Proteinuria	Associate	10193250, 10620209, 17601378
Psychotic Disorders	Associate	24743863
Pulmonary Disease Chronic Obstructive	Associate	12832683, 16600946, 20156752, 23661462, 23702088
Pulmonary edema of mountaineers	Associate	26436397
Pulmonary Embolism	Associate	16936432
Radiation Injuries	Associate	23334061
Renal Artery Obstruction	Associate	14718831
Renal Insufficiency	Associate	15361261, 27748299
Renal Insufficiency Chronic	Associate	22147663, 26440392, 27050505, 27748299, 29949384
Renal Insufficiency Chronic	Stimulate	25782922
Respiratory Distress Syndrome	Associate	15381116, 15819995, 17107992, 20515555, 21960125, 32901433, 33197472, 34441050, 35305693, 35899560
Respiratory Insufficiency	Stimulate	34734785
Respiratory Sounds	Associate	19383228
Respiratory Tract Diseases	Associate	18702808, 23560051, 32882331
Retinal Diseases	Associate	28128370
Retinitis	Associate	10652033
Rheumatic Heart Disease	Associate	15655270, 25719581
Rhinitis Allergic	Associate	24150611
Sarcoidosis	Associate	10362030, 10672133, 11168787, 16901684, 17138677, 19119484, 20066543, 23030744, 34325227, 35395284, 36893477, 39393304, 8795663, 9713444
Sarcoidosis	Stimulate	8736208
Schizophrenia	Associate	24743863, 33688928, 35606706
Seminoma	Associate	26234235, 31006710
Severe Acute Respiratory Syndrome	Associate	15381116
Skin Diseases	Associate	24203630
Sleep Apnea Obstructive	Associate	11401071, 18763423, 23609427, 31064975
Sleep Apnea Syndromes	Associate	11401071, 23609427
Smoke Inhalation Injury	Associate	16088850, 22144991
Soft Tissue Injuries	Associate	35260304
Splenomegaly	Associate	17875181
Spondylitis Ankylosing	Associate	22876137
Squamous Cell Carcinoma of Head and Neck	Associate	33513805
ST Elevation Myocardial Infarction	Associate	31195108, 31647035, 31873176
Stomach Neoplasms	Associate	15897638, 16435992, 18059164
Stomatitis Aphthous	Associate	35305614
Stress Disorders Post Traumatic	Associate	34935564
Stroke	Associate	18387982, 21421656, 34747787
Stroke Lacunar	Associate	11861692
Substance Related Disorders	Associate	28127518
Sutton disease 2	Associate	35305614
Symphalangism C. S. Lewis Type	Associate	21570325
Syncope	Associate	19126662
Syndrome	Associate	34603503
Tachycardia	Associate	24389577
Tachycardia Ectopic Junctional	Associate	21740877
Tachycardia Ventricular	Associate	19126662
Thoracic Diseases	Associate	23334061
Thrombophilia	Associate	24569626, 34441050, 9708474
Thrombosis	Associate	34441050
Tinnitus	Associate	25000107
Tooth Loss	Associate	19717502
Tricuspid Atresia	Associate	15671615
Tricuspid Valve Stenosis	Associate	22245237
Tuberculosis	Associate	14748748, 17427637
Tuberculosis Extrapulmonary	Associate	39393304
Tuberculosis Pulmonary	Associate	38380450
Vascular Diseases	Associate	15292102, 17889866, 22723444, 23702088, 33499313, 9264004
Vascular System Injuries	Associate	11836444, 27240348
Venous Thromboembolism	Associate	34441050
Venous Thrombosis	Associate	11994975
Ventricular Dysfunction Left	Associate	12906984, 16875979, 18046090, 21162760, 22297600, 9083287
Ventricular Fibrillation	Associate	21248783
Ventricular Remodeling	Associate	10486698, 19648063, 24270863, 25869724, 9180106
Virus Diseases	Associate	32348166, 35688710
Vitamin D Deficiency	Associate	32901433
Vitiligo	Associate	26177100
Weight Gain	Associate	15919834
Weight Loss	Associate	27897403, 28096099, 32121233
Wounds and Injuries	Associate	11821634