GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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ACE (angiotensin I converting enzyme)

Gene

1636

Angiotensin I converting enzyme

ACE

ACE1, CD143, DCP, DCP1

17q23.3

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

Show/Hide all(14)

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

Show/Hide all(27)

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

Show/Hide all(5)

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

Show/Hide all(67)

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

MIM	HGNC	e!Ensembl
106180	2707	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

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

Interactions

View interactions

	KEGG		Reactome
	Renin-angiotensin system Renin secretion Chagas disease Coronavirus disease - COVID-19 Hypertrophic cardiomyopathy Diabetic cardiomyopathy		Metabolism of Angiotensinogen to Angiotensins

Associated diseases

Show/Hide Causal Diseases (20)

Causal
Disease name	Disease term	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, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	30820047, 10643899, 9916793, 14872014, 17192785, 17192785, 30820047, 14872014, 9916793, 10643899, 17192785, 10643899, 14872014, 30820047, 9916793, 29777097, 30820047, 10643899, 14872014, 17192785, 9916793, 30820047, 10643899, 17192785, 9916793, 14872014
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, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	27082637
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	21552421
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, 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, rs118203895, rs118203896, rs118203897, rs267607212, 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, rs13333226	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
Myocardial infarction	Myocardial Infarction, Myocardial Failure	rs12316150, rs41303970, rs909253, rs7291467, rs2234693	1328889, 8131300, 18586661
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	rs74315508, rs74315509, rs13447324, rs1558507406, 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, 24615782

Show/Hide Unknown Diseases (28)

Unknown
Disease name	Disease term	dbSNP ID	References
Allanson pantzar mcleod syndrome	Allanson Pantzar McLeod syndrome		22095942, 16116425, 20454656
Berger disease	NON RARE IN EUROPE: Berger disease
Bipolar disorder	Bipolar Disorder		11027844, 21314245, 20010451, 11145009
Cardiovascular diseases	Cardiovascular Diseases		16544732, 11498459, 14657821
Celiac disease	Celiac Disease	rs2305764, rs35218876	30097691
Cerebral ischemia	Brain Ischemia		15534175
Pulmonary hypoplasia	Congenital hypoplasia of lung	rs1569032634
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569	18586661
Coronary arteriosclerosis	Coronary Arteriosclerosis		14989558
Coronary heart disease	Coronary heart disease	rs9289231, rs281864746	8170965
Coronary restenosis	Coronary Restenosis		9236417
Diabetic nephropathy	Diabetic Nephropathy		10857950, 7909524, 23733546, 10099885
Glomerulosclerosis	Nodular glomerulosclerosis		23733546, 7909524, 10099885, 10857950
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided	rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741	18586661
Kidney failure	Kidney Failure, Chronic, Kidney Failure		7593601, 10099885, 9259580
Liver carcinoma	Liver carcinoma		16328049
Lung neoplasms	Lung Neoplasms		21552421
Lung diseases	Lung diseases		18702808
Mental depression	Depressive disorder, Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	25694211, 22808171, 22688325, 22688325, 22808171
Non-alcoholic fatty liver disease	Non-alcoholic Fatty Liver Disease, Nonalcoholic Steatohepatitis		21664615
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	rs199865688, rs397515994, rs757096307	15331425
Prostatic neoplasms	Prostatic Neoplasms		17465223
Renal tubular dysgenesis with choanal atresia and athelia	Renal Tubular Dysgenesis With Choanal Atresia And Athelia		22095942, 16116425
Respiratory tract diseases	Respiratory Tract Diseases		14657821
Senile dementia	Presenile dementia, Acute Confusional Senile Dementia		17192785, 30820047, 10643899, 14872014, 9916793, 9916793, 17192785, 14872014, 30820047, 10643899
Severe acute respiratory syndrome	Severe Acute Respiratory Syndrome		15381116
Stomach neoplasms	Malignant neoplasm of stomach, Stomach Neoplasms		18059164
Stroke	Cerebrovascular accident, Acute Cerebrovascular Accidents		15534175

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