AGT (angiotensinogen)

Download as csv Download as pdf

Log in to save this analysis

Save This Analysis

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 183
• Gene name: Angiotensinogen
• Gene symbol: AGT
• Synonyms (NCBI Gene): ANHU, SERPINA8, hFLT1
• Chromosome: 1
• Chromosome location: 1q42.2
• Summary: The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin co

SNPs Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs699	A>G	Benign, risk-factor	Coding sequence variant, missense variant
rs74315283	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs121912702	G>A	Pathogenic	Stop gained, coding sequence variant
rs387906578	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant, stop gained
rs747815674	C>A	Pathogenic	Splice donor variant
rs778806374	G>A	Pathogenic	Coding sequence variant, stop gained

miRNA Show/Hide all (116)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028917	hsa-miR-26b-5p	Microarray	19088304
MIRT2168949	hsa-miR-3613-3p	CLIP-seq
MIRT2168950	hsa-miR-4457	CLIP-seq
MIRT2168951	hsa-miR-513b	CLIP-seq
MIRT2168952	hsa-miR-548c-3p	CLIP-seq
MIRT2464834	hsa-miR-337-5p	CLIP-seq
MIRT2464835	hsa-miR-3684	CLIP-seq
MIRT2464836	hsa-miR-4428	CLIP-seq
MIRT2471486	hsa-miR-1202	CLIP-seq
MIRT2471487	hsa-miR-1245b-5p	CLIP-seq
MIRT2471488	hsa-miR-125a-3p	CLIP-seq
MIRT2471489	hsa-miR-1291	CLIP-seq
MIRT2471490	hsa-miR-181a	CLIP-seq
MIRT2471491	hsa-miR-181b	CLIP-seq
MIRT2471492	hsa-miR-181c	CLIP-seq
MIRT2471493	hsa-miR-181d	CLIP-seq
MIRT2471494	hsa-miR-2116	CLIP-seq
MIRT2471495	hsa-miR-2117	CLIP-seq
MIRT2471496	hsa-miR-2355-3p	CLIP-seq
MIRT2471497	hsa-miR-2467-3p	CLIP-seq
MIRT2471498	hsa-miR-3117-5p	CLIP-seq
MIRT2471499	hsa-miR-3121-5p	CLIP-seq
MIRT2471500	hsa-miR-3142	CLIP-seq
MIRT2471501	hsa-miR-3152-5p	CLIP-seq
MIRT2471502	hsa-miR-3160-5p	CLIP-seq
MIRT2471503	hsa-miR-3176	CLIP-seq
MIRT2471504	hsa-miR-3180-5p	CLIP-seq
MIRT2464834	hsa-miR-337-5p	CLIP-seq
MIRT2168949	hsa-miR-3613-3p	CLIP-seq
MIRT2464835	hsa-miR-3684	CLIP-seq
MIRT2471505	hsa-miR-375	CLIP-seq
MIRT2471506	hsa-miR-3922-3p	CLIP-seq
MIRT2471507	hsa-miR-3934	CLIP-seq
MIRT2471508	hsa-miR-3972	CLIP-seq
MIRT2471509	hsa-miR-3973	CLIP-seq
MIRT2471510	hsa-miR-4262	CLIP-seq
MIRT2471511	hsa-miR-4267	CLIP-seq
MIRT2471512	hsa-miR-4269	CLIP-seq
MIRT2471513	hsa-miR-4273	CLIP-seq
MIRT2471514	hsa-miR-4314	CLIP-seq
MIRT2471515	hsa-miR-4327	CLIP-seq
MIRT2464836	hsa-miR-4428	CLIP-seq
MIRT2471516	hsa-miR-4431	CLIP-seq
MIRT2168950	hsa-miR-4457	CLIP-seq
MIRT2471517	hsa-miR-4463	CLIP-seq
MIRT2471518	hsa-miR-4645-5p	CLIP-seq
MIRT2471519	hsa-miR-4646-3p	CLIP-seq
MIRT2471520	hsa-miR-4667-5p	CLIP-seq
MIRT2471521	hsa-miR-4673	CLIP-seq
MIRT2471522	hsa-miR-4677-5p	CLIP-seq
MIRT2471523	hsa-miR-4686	CLIP-seq
MIRT2471524	hsa-miR-4688	CLIP-seq
MIRT2471525	hsa-miR-4700-5p	CLIP-seq
MIRT2471526	hsa-miR-4731-3p	CLIP-seq
MIRT2471527	hsa-miR-4753-5p	CLIP-seq
MIRT2471528	hsa-miR-4755-3p	CLIP-seq
MIRT2471529	hsa-miR-4774-3p	CLIP-seq
MIRT2471530	hsa-miR-4775	CLIP-seq
MIRT2471531	hsa-miR-4801	CLIP-seq
MIRT2471532	hsa-miR-486-3p	CLIP-seq
MIRT2471533	hsa-miR-513c	CLIP-seq
MIRT2471534	hsa-miR-514b-5p	CLIP-seq
MIRT2471535	hsa-miR-520g	CLIP-seq
MIRT2471536	hsa-miR-520h	CLIP-seq
MIRT2471537	hsa-miR-539	CLIP-seq
MIRT2471538	hsa-miR-548aa	CLIP-seq
MIRT2168952	hsa-miR-548c-3p	CLIP-seq
MIRT2471539	hsa-miR-584	CLIP-seq
MIRT2471540	hsa-miR-590-3p	CLIP-seq
MIRT2471541	hsa-miR-600	CLIP-seq
MIRT2471542	hsa-miR-602	CLIP-seq
MIRT2471543	hsa-miR-636	CLIP-seq
MIRT2471544	hsa-miR-637	CLIP-seq
MIRT2471545	hsa-miR-642b	CLIP-seq
MIRT2471546	hsa-miR-764	CLIP-seq
MIRT2471547	hsa-miR-892a	CLIP-seq
MIRT2471486	hsa-miR-1202	CLIP-seq
MIRT2471487	hsa-miR-1245b-5p	CLIP-seq
MIRT2471490	hsa-miR-181a	CLIP-seq
MIRT2471491	hsa-miR-181b	CLIP-seq
MIRT2471492	hsa-miR-181c	CLIP-seq
MIRT2471493	hsa-miR-181d	CLIP-seq
MIRT2471494	hsa-miR-2116	CLIP-seq
MIRT2471496	hsa-miR-2355-3p	CLIP-seq
MIRT2471497	hsa-miR-2467-3p	CLIP-seq
MIRT2471498	hsa-miR-3117-5p	CLIP-seq
MIRT2471499	hsa-miR-3121-5p	CLIP-seq
MIRT2471500	hsa-miR-3142	CLIP-seq
MIRT2471501	hsa-miR-3152-5p	CLIP-seq
MIRT2471502	hsa-miR-3160-5p	CLIP-seq
MIRT2471503	hsa-miR-3176	CLIP-seq
MIRT2471504	hsa-miR-3180-5p	CLIP-seq
MIRT2464834	hsa-miR-337-5p	CLIP-seq
MIRT2464835	hsa-miR-3684	CLIP-seq
MIRT2471506	hsa-miR-3922-3p	CLIP-seq
MIRT2471508	hsa-miR-3972	CLIP-seq
MIRT2471509	hsa-miR-3973	CLIP-seq
MIRT2471510	hsa-miR-4262	CLIP-seq
MIRT2471511	hsa-miR-4267	CLIP-seq
MIRT2464836	hsa-miR-4428	CLIP-seq
MIRT2471516	hsa-miR-4431	CLIP-seq
MIRT2471518	hsa-miR-4645-5p	CLIP-seq
MIRT2471519	hsa-miR-4646-3p	CLIP-seq
MIRT2471521	hsa-miR-4673	CLIP-seq
MIRT2471522	hsa-miR-4677-5p	CLIP-seq
MIRT2471523	hsa-miR-4686	CLIP-seq
MIRT2471524	hsa-miR-4688	CLIP-seq
MIRT2471527	hsa-miR-4753-5p	CLIP-seq
MIRT2471528	hsa-miR-4755-3p	CLIP-seq
MIRT2471529	hsa-miR-4774-3p	CLIP-seq
MIRT2471532	hsa-miR-486-3p	CLIP-seq
MIRT2471535	hsa-miR-520g	CLIP-seq
MIRT2471536	hsa-miR-520h	CLIP-seq
MIRT2471541	hsa-miR-600	CLIP-seq
MIRT2471542	hsa-miR-602	CLIP-seq
MIRT2471545	hsa-miR-642b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Unknown	10628750;8613256
RELA	Unknown	10628750;8613256
SP1	Unknown	12032593
USF1	Repression	18802024
YBX1	Activation	11829142

Gene ontology (GO) Show/Hide all (87)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	NAS	17159080
GO:0001819	Process	Positive regulation of cytokine production	IDA	17906677
GO:0001822	Process	Kidney development	IMP	16116425
GO:0001974	Process	Blood vessel remodeling	TAS	10406457
GO:0002016	Process	Regulation of blood volume by renin-angiotensin	NAS	17159080
GO:0002018	Process	Renin-angiotensin regulation of aldosterone production	NAS	17159080
GO:0002019	Process	Regulation of renal output by angiotensin	NAS	17159080
GO:0002034	Process	Maintenance of blood vessel diameter homeostasis by renin-angiotensin	IDA	26420482
GO:0002034	Process	Maintenance of blood vessel diameter homeostasis by renin-angiotensin	IDA	1567413
GO:0002034	Process	Maintenance of blood vessel diameter homeostasis by renin-angiotensin	TAS	10406457
GO:0003014	Process	Renal system process	IDA	21183621
GO:0003081	Process	Regulation of systemic arterial blood pressure by renin-angiotensin	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	TAS	3397061
GO:0005179	Function	Hormone activity	IC	1378723
GO:0005179	Function	Hormone activity	IDA	1567413
GO:0005179	Function	Hormone activity	ISS
GO:0005515	Function	Protein binding	IPI	10969042, 11815627, 16237761, 18202720, 20927107, 23082758, 23597562, 32814053
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IC	1378723
GO:0005615	Component	Extracellular space	IDA	4300938
GO:0005615	Component	Extracellular space	IDA	18971559
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	10406457
GO:0007199	Process	G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger	TAS	17159080
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	NAS	17159080
GO:0007267	Process	Cell-cell signaling	TAS	8513325
GO:0008083	Function	Growth factor activity	IDA	10406457
GO:0008217	Process	Regulation of blood pressure	IGI	17416596
GO:0010595	Process	Positive regulation of endothelial cell migration	IDA	15652490
GO:0010613	Process	Positive regulation of cardiac muscle hypertrophy	ISS
GO:0010629	Process	Negative regulation of gene expression	IDA	24296617
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	ISS
GO:0010744	Process	Positive regulation of macrophage derived foam cell differentiation	IDA	18971559
GO:0014873	Process	Response to muscle activity involved in regulation of muscle adaptation	ISS
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	TAS	19193863
GO:0017080	Function	Sodium channel regulator activity	IMP	15803439, 17703433
GO:0019229	Process	Regulation of vasoconstriction	NAS	17159080
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0031702	Function	Type 1 angiotensin receptor binding	IPI	1378723
GO:0031703	Function	Type 2 angiotensin receptor binding	IPI	10406457
GO:0032930	Process	Positive regulation of superoxide anion generation	TAS	19193863
GO:0034374	Process	Low-density lipoprotein particle remodeling	NAS	17069818
GO:0035813	Process	Regulation of renal sodium excretion	NAS	17159080
GO:0038060	Process	Nitric oxide-cGMP-mediated signaling	TAS	17159080
GO:0038166	Process	Angiotensin-activated signaling pathway	IDA	1567413
GO:0038166	Process	Angiotensin-activated signaling pathway	IDA	1567413, 15652490, 18971559, 24296617
GO:0038166	Process	Angiotensin-activated signaling pathway	IMP	15153556
GO:0042127	Process	Regulation of cell population proliferation	NAS	17159080
GO:0042310	Process	Vasoconstriction	IEA
GO:0042981	Process	Regulation of apoptotic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	23453970, 35093948
GO:0043407	Process	Negative regulation of MAP kinase activity	IMP	28283184
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IDA	15652490
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	15153556, 18607644, 24296617
GO:0048018	Function	Receptor ligand activity	IDA	24296617
GO:0048146	Process	Positive regulation of fibroblast proliferation	ISS
GO:0050729	Process	Positive regulation of inflammatory response	IDA	17906677
GO:0050729	Process	Positive regulation of inflammatory response	TAS	17159080
GO:0051387	Process	Negative regulation of neurotrophin TRK receptor signaling pathway	IDA	10406457
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	15652490
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070294	Process	Renal sodium ion absorption	IDA	35093948
GO:0070294	Process	Renal sodium ion absorption	ISS	14608358, 17975670
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	IDA	18607644
GO:0090205	Process	Positive regulation of cholesterol metabolic process	IDA	18971559
GO:0097746	Process	Blood vessel diameter maintenance	IEA
GO:0110063	Process	Positive regulation of angiotensin-activated signaling pathway	IDA	25313067
GO:1901201	Process	Regulation of extracellular matrix assembly	IGI	17416596
GO:1901203	Process	Positive regulation of extracellular matrix assembly	IDA	30729664
GO:1902306	Process	Negative regulation of sodium ion transmembrane transport	TAS	19193863
GO:1902632	Process	Positive regulation of membrane hyperpolarization	IMP	15803439, 17703433
GO:1902895	Process	Positive regulation of miRNA transcription	IMP	30729664
GO:1903598	Process	Positive regulation of gap junction assembly	IGI	17416596
GO:1903779	Process	Regulation of cardiac conduction	IGI	17416596
GO:1990776	Process	Response to angiotensin	IBA
GO:1990776	Process	Response to angiotensin	IDA	30729664
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	IDA	17906677
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IDA	10406457

Other IDs

• MIM: 106150
• HGNC: 333
• e!Ensembl: ENSG00000135744

Protein

• UniProt ID: P01019
• Protein name: Angiotensinogen (Serpin A8) [Cleaved into: Angiotensin-1 (Angiotensin 1-10) (Angiotensin I) (Ang I); Angiotensin-2 (Angiotensin 1-8) (Angiotensin II) (Ang II); Angiotensin-3 (Angiotensin 2-8) (Angiotensin III) (Ang III) (Des-Asp[1]-angiotensin II); Angiot
• Protein function: Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis. ; [Angioten
• PDB: 1N9U , 1N9V , 2JP8 , 2WXW , 2X0B , 3CK0 , 3WOO , 3WOR , 4AA1 , 4APH , 4FYS , 5E2Q , 5M3X , 5M3Y , 5XJM , 6I3F , 6I3I , 6JOD , 6OS0 , 7C6A
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00079	Serpin	108 → 481	Serpin (serine protease inhibitor)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma. {ECO:0000269|PubMed:1692023}.
• Sequence:

  MRKRAPQSEMAPAGVSLRATILCLLAWAGLAAGDRVYIHPFHLVIHNESTCEQLAKANAG
  KPKDPTFIPAPIQAKTSPVDEKALQDQLVLVAAKLDTEDKLRAAMVGMLANFLGFRIYGM
  HSELWGVVHGATVLSPTAVFGTLASLYLGALDHTADRLQAILGVPWKDKNCTSRLDAHKV
  LSALQAVQGLLVAQGRADSQAQLLLSTVVGVFTAPGLHLKQPFVQGLALYTPVVLPRSLD
  FTELDVAAEKIDRFMQAVTGWKTGCSLMGASVDSTLAFNTYVHFQGKMKGFSLLAEPQEF
  WVDNSTSVSVPMLSGMGTFQHWSDIQDNFSVTQVPFTESACLLLIQPHYASDLDKVEGLT
  FQQNSLNWMKKLSPRTIHLTMPQLVLQGSYDLQDLLAQAELPAILHTELNLQKLSNDRIR
  VGEVLNSIFFELEADEREPTESTQQLNKPEVLEVTLNRPFLFAVYDQSATALHFLGRVAN
  PLSTA

• Sequence length: 485

Pathways

KEGG Pathway	Reactome Pathway
Phospholipase D signaling pathway	PPARA activates gene expression
Neuroactive ligand-receptor interaction	Metabolism of Angiotensinogen to Angiotensins
Hormone signaling	Peptide ligand-binding receptors
Adrenergic signaling in cardiomyocytes	G alpha (q) signalling events
Vascular smooth muscle contraction	G alpha (i) signalling events
Renin-angiotensin system
Renin secretion
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Insulin resistance
AGE-RAGE signaling pathway in diabetic complications
Cushing syndrome
Pathways in cancer
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Diabetic cardiomyopathy

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Anhydramnios	Likely pathogenic	rs2102791328, rs387906578	RCV001807655 RCV001807656	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Essential hypertension, genetic	Likely pathogenic; Pathogenic	rs778806374, rs747815674	RCV002496897 RCV002489210	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Large fontanelles	Likely pathogenic	rs2102791328, rs387906578	RCV001807655 RCV001807656	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubular dysgenesis	Likely pathogenic; Pathogenic	rs74315283, rs121912702, rs387906578, rs776421645	RCV000019696 RCV000019697 RCV000019698 RCV001175178	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubular dysgenesis of genetic origin	Likely pathogenic; Pathogenic	rs778806374, rs747815674	RCV002496897 RCV002489210	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (93)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AGT-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	30514930	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	CTD, Disgenet CTD, Disgenet	3524928	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANURIA	—	CTD, Disgenet CTD, Disgenet	8527259	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM	—	CTD, Disgenet CTD, Disgenet	21925196	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM, ABDOMINAL	—	CTD	16514081, 20937366, 22539767, 25301841, 30354818, 34796763, 37691532	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC DISSECTION	—	CTD	17502491	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMIAS, CARDIAC	—	CTD	1654493, 2535056	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	21925196, 22539767	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	40645996	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRADYCARDIA	—	CTD	9519251	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	11403367, 15226216, 15851630, 15870116, 17124262, 18400235, 19794523, 20190099, 20409916, 20429690, 20616315, 20811386, 22291909, 22335191, 24342267, 25139994, 25488910, 27099261, 29353218, 30634441, 30703374, 31016362, 35510648	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	12145768	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, ALCOHOLIC	—	CTD, Disgenet CTD, Disgenet	22497828	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	25807386	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	30595370	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	16544732	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASES	—	CTD, Disgenet CTD, Disgenet	12911327	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATALEPSY	—	CTD, Disgenet CTD, Disgenet	1034924	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	27989131	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	22982863	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	29212778, 33020668, 41022758	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	29353218	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES	—	CTD	17890855, 20383342	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	CTD, Disgenet CTD, Disgenet	15387897	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSECTION OF AORTA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FABRY DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	CTD, Disgenet CTD, Disgenet	11459117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	19373235	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	12025466, 1330361, 20811386	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HENOCH-SCHOENLEIN PURPURA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRONEPHROSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	9613798	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEREMIA	—	CTD, Disgenet CTD, Disgenet	15815331	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERHOMOCYSTEINEMIA	—	CTD, Disgenet CTD, Disgenet	24386282	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD, GWAS catalog CTD, GWAS catalog	10400907, 10526905, 11459117, 11501062, 12084390, 12121858, 12414515, 12600921, 12676074, 1394429, 1432030, 14751847, 15243307, 15302986, 15699457, 15833808, 15851630, 16618834, 16788141, 16868307, 17272743, 17537837, 17989111, 18420994, 1849535, 1860718,	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension, essential, susceptibility to	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, MALIGNANT	—	CTD	2493837, 27428043	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, RENAL	—	CTD	8763405	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disorder	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY	—	CTD	12054679, 12237323, 18785976, 21071431, 24039778, 26955731, 38356441	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY, LEFT VENTRICULAR	—	CTD	10805403, 14644620, 14751847, 18679781, 24688123, 31016362	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	CTD	30634441, 3078272, 8527259, 9323291	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	12414515, 15213268, 17989111, 21896938, 31098697	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR HYPERTROPHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	15613622	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT HYPERTENSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	16413583, 1668233	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	16775501	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	12606818, 1535655	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSIS	—	CTD, Disgenet CTD, Disgenet	2046802	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	30541042	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC DUCTAL ADENOCARCINOMA	—	GWAS catalog	30541042	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER HEMORRHAGE	—	CTD	20824505	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POTASSIUM DEFICIENCY DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRE-ECLAMPSIA	—	CTD	8513325	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	12937228, 17890855, 2046802, 25398788, 464098, 9259580	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	28960804, 31181250	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RENAL HYPERTENSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY OF PREMATURITY	—	CTD, Disgenet CTD, Disgenet	15387897	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUPTURED ABDOMINAL AORTIC ANEURYSM	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUPTURED AORTIC ANEURYSM	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUPTURED THORACIC AORTIC ANEURYSM	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	16771832	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICK SINUS SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THORACOABDOMINAL AORTIC ANEURYSM, RUPTURED	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOSIS	—	CTD	11881036, 21501650	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETERAL OBSTRUCTION	—	CTD	26207612	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	29706566	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR REMODELING	—	CTD	25259750, 27678262	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	24688123, 29353218, 30703374	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR REMODELING	—	CTD	29353218	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

EDN1 20 shared diseasesCardiac arrhythmia, Atherosclerosis, Bradycardia, Cardiomegaly, Cardiomyopathy, Cardiovascular abnormalities, Cerebrovascular disorder, Congestive heart failure, Diabetic retinopathy, Focal glomerulosclerosis, Hyperalgesia, Hypertrophy +8 more 6 shared pathwaysVascular smooth muscle contraction, Renin secretion, AGE-RAGE signaling pathway in diabetic complications, Hypertrophic cardiomyopathy, Peptide ligand-binding receptors, G alpha (q) signalling events 35 shared evidence sourcesCTD (Cardiac arrhythmia), Disgenet (Atherosclerosis), Disgenet (Atrial fibrillation), CTD (Bradycardia), Disgenet (Cardiac arrhythmia), CTD (Cardiomegaly), Disgenet (Cardiomyopathy), CTD (Cardiomyopathy), CTD (Cardiovascular abnormalities), Disgenet (Cardiovascular abnormalities), CTD (Cardiovascular disease), Disgenet (Cardiovascular disease) +23 more Related via 20 shared diseases including Cardiac arrhythmia, Atherosclerosis — evidence mostly CTD. AGTR1 8 shared diseasesAnhydramnios, Aortic aneurysm, Carotid artery disease, Cerebrovascular disorder, Congestive heart failure, Diabetic retinopathy, Kidney failure, Proteinuria 13 shared pathwaysPhospholipase D signaling pathway, Hormone signaling, Adrenergic signaling in cardiomyocytes, Vascular smooth muscle contraction, Renin-angiotensin system, Renin secretion, Aldosterone synthesis and secretion, Cortisol synthesis and secretion, AGE-RAGE signaling pathway in diabetic complications, Cushing syndrome, Diabetic cardiomyopathy, Peptide ligand-binding receptors +1 more 15 shared evidence sourcesDisgenet (Anhydramnios), CTD (Aortic aneurysm), Disgenet (Carotid artery disease), Disgenet (Cerebrovascular disorder), Disgenet (Kidney disease), Disgenet (Congestive heart failure), Disgenet (Diabetic retinopathy), CTD (Diabetic retinopathy), CTD (Hypertension), CTD (Heart failure), Disgenet (Heart failure), CTD (Kidney disease) +3 more Related via 13 shared pathways including Phospholipase D signaling pathway, Hormone signaling — evidence mostly Disgenet. ACE 18 shared diseasesAnemia, Anhydramnios, Cardiac arrhythmia, Cerebrovascular disorder, Liver cirrhosis, Congestive heart failure, Diabetic neuropathy, Diabetic retinopathy, Fabry disease, Henoch schoenlein purpura, Hypertrophy, Hypotension +6 more 5 shared pathwaysRenin-angiotensin system, Renin secretion, Hypertrophic cardiomyopathy, Diabetic cardiomyopathy, Metabolism of Angiotensinogen to Angiotensins 31 shared evidence sourcesDisgenet (Anemia), Disgenet (Anhydramnios), CTD (Cardiac arrhythmia), Disgenet (Atrial fibrillation), Disgenet (Cardiac arrhythmia), CTD (Cardiovascular disease), Disgenet (Cardiovascular disease), Disgenet (Cerebrovascular disorder), Disgenet (Kidney disease), Disgenet (Congestive heart failure), CTD (Diabetic neuropathy), Disgenet (Diabetic neuropathy) +19 more Related via 18 shared diseases including Anemia, Anhydramnios — evidence mostly Disgenet. REN 10 shared diseasesAnemia, Cardiomegaly, Liver cirrhosis, Congestive heart failure, Malignant hypertension, Hypertrophy, Hypotension, Nephrotic syndrome, Left ventricular disease, Proteinuria 4 shared pathwaysRenin-angiotensin system, Renin secretion, Diabetic cardiomyopathy, Metabolism of Angiotensinogen to Angiotensins 21 shared evidence sourcesDisgenet (Anemia), CTD (Anemia), CTD (Cardiomegaly), Disgenet (Kidney disease), Disgenet (Congestive heart failure), CTD (Hypertension), CTD (Heart failure), Disgenet (Heart failure), CTD (Malignant hypertension), CTD (Hypertrophy), CTD (Hypotension), Disgenet (Nephrotic syndrome) +9 more Related via 10 shared diseases including Anemia, Cardiomegaly — evidence mostly CTD. POMC 15 shared diseasesBradycardia, Cardiomegaly, Cardiomyopathy, Catalepsy, Cholelithiasis, Congestive heart failure, Glomerulonephritis, Hypertrophic cardiomyopathy, Sick sinus syndrome, Seizures, Hypotension, Kidney failure +3 more 6 shared pathwaysHormone signaling, Aldosterone synthesis and secretion, Cortisol synthesis and secretion, Cushing syndrome, G alpha (i) signalling events, Peptide ligand-binding receptors 26 shared evidence sourcesCTD (Bradycardia), CTD (Cardiomegaly), Disgenet (Cardiomyopathy), CTD (Cardiomyopathy), CTD (Catalepsy), Disgenet (Catalepsy), CTD (Cholelithiasis), Disgenet (Cholelithiasis), Disgenet (Kidney disease), Disgenet (Obesity), Disgenet (Congestive heart failure), Disgenet (Glomerulonephritis) +14 more Related via 15 shared diseases including Bradycardia, Cardiomegaly — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
EDN1	20	["Cardiac arrhythmia","Atherosclerosis","Bradycardia","Cardiomegaly","Cardiomyopathy","Cardiovascular abnormalities","Cerebrovascular disorder","Congestive heart failure","Diabetic retinopathy","Focal glomerulosclerosis","Hyperalgesia","Hypertrophy"]	6	["Vascular smooth muscle contraction","Renin secretion","AGE-RAGE signaling pathway in diabetic complications","Hypertrophic cardiomyopathy","Peptide ligand-binding receptors","G alpha (q) signalling events"]	35	["CTD (Cardiac arrhythmia)","Disgenet (Atherosclerosis)","Disgenet (Atrial fibrillation)","CTD (Bradycardia)","Disgenet (Cardiac arrhythmia)","CTD (Cardiomegaly)","Disgenet (Cardiomyopathy)","CTD (Cardiomyopathy)","CTD (Cardiovascular abnormalities)","Disgenet (Cardiovascular abnormalities)","CTD (Cardiovascular disease)","Disgenet (Cardiovascular disease)"]
AGTR1	8	["Anhydramnios","Aortic aneurysm","Carotid artery disease","Cerebrovascular disorder","Congestive heart failure","Diabetic retinopathy","Kidney failure","Proteinuria"]	13	["Phospholipase D signaling pathway","Hormone signaling","Adrenergic signaling in cardiomyocytes","Vascular smooth muscle contraction","Renin-angiotensin system","Renin secretion","Aldosterone synthesis and secretion","Cortisol synthesis and secretion","AGE-RAGE signaling pathway in diabetic complications","Cushing syndrome","Diabetic cardiomyopathy","Peptide ligand-binding receptors"]	15	["Disgenet (Anhydramnios)","CTD (Aortic aneurysm)","Disgenet (Carotid artery disease)","Disgenet (Cerebrovascular disorder)","Disgenet (Kidney disease)","Disgenet (Congestive heart failure)","Disgenet (Diabetic retinopathy)","CTD (Diabetic retinopathy)","CTD (Hypertension)","CTD (Heart failure)","Disgenet (Heart failure)","CTD (Kidney disease)"]
ACE	18	["Anemia","Anhydramnios","Cardiac arrhythmia","Cerebrovascular disorder","Liver cirrhosis","Congestive heart failure","Diabetic neuropathy","Diabetic retinopathy","Fabry disease","Henoch schoenlein purpura","Hypertrophy","Hypotension"]	5	["Renin-angiotensin system","Renin secretion","Hypertrophic cardiomyopathy","Diabetic cardiomyopathy","Metabolism of Angiotensinogen to Angiotensins"]	31	["Disgenet (Anemia)","Disgenet (Anhydramnios)","CTD (Cardiac arrhythmia)","Disgenet (Atrial fibrillation)","Disgenet (Cardiac arrhythmia)","CTD (Cardiovascular disease)","Disgenet (Cardiovascular disease)","Disgenet (Cerebrovascular disorder)","Disgenet (Kidney disease)","Disgenet (Congestive heart failure)","CTD (Diabetic neuropathy)","Disgenet (Diabetic neuropathy)"]
REN	10	["Anemia","Cardiomegaly","Liver cirrhosis","Congestive heart failure","Malignant hypertension","Hypertrophy","Hypotension","Nephrotic syndrome","Left ventricular disease","Proteinuria"]	4	["Renin-angiotensin system","Renin secretion","Diabetic cardiomyopathy","Metabolism of Angiotensinogen to Angiotensins"]	21	["Disgenet (Anemia)","CTD (Anemia)","CTD (Cardiomegaly)","Disgenet (Kidney disease)","Disgenet (Congestive heart failure)","CTD (Hypertension)","CTD (Heart failure)","Disgenet (Heart failure)","CTD (Malignant hypertension)","CTD (Hypertrophy)","CTD (Hypotension)","Disgenet (Nephrotic syndrome)"]
POMC	15	["Bradycardia","Cardiomegaly","Cardiomyopathy","Catalepsy","Cholelithiasis","Congestive heart failure","Glomerulonephritis","Hypertrophic cardiomyopathy","Sick sinus syndrome","Seizures","Hypotension","Kidney failure"]	6	["Hormone signaling","Aldosterone synthesis and secretion","Cortisol synthesis and secretion","Cushing syndrome","G alpha (i) signalling events","Peptide ligand-binding receptors"]	26	["CTD (Bradycardia)","CTD (Cardiomegaly)","Disgenet (Cardiomyopathy)","CTD (Cardiomyopathy)","CTD (Catalepsy)","Disgenet (Catalepsy)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","Disgenet (Kidney disease)","Disgenet (Obesity)","Disgenet (Congestive heart failure)","Disgenet (Glomerulonephritis)"]

Diseases Linked via Similar Genes

Ischemic heart disease Linked via 3 of 5 related genesEDN1, AGTR1, ACE Diabetes mellitus type 2 Linked via 3 of 5 related genesEDN1, ACE, POMC Asthma Linked via 2 of 5 related genesEDN1, ACE Obstructive airway disease Linked via 2 of 5 related genesEDN1, ACE Digestive system disease Linked via 2 of 5 related genesEDN1, POMC

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Ischemic heart disease	3	["EDN1","AGTR1","ACE"]
Diabetes mellitus type 2	3	["EDN1","ACE","POMC"]
Asthma	2	["EDN1","ACE"]
Obstructive airway disease	2	["EDN1","ACE"]
Digestive system disease	2	["EDN1","POMC"]