Aortic Valve Insufficiency

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Aortic Valve Insufficiency

MalaCards integrated aliases for Aortic Valve Insufficiency:

Name: Aortic Valve Insufficiency 12 43 15 17 71
Aortic Regurgitation 12 54 6 15
Rheumatic Aortic Insufficiency 12 32
Rheumatic Aortic Regurgitation 12 71
Rheumatic Aortic Valve Insufficiency 12
Rheumatic Aortic Valve Regurgitation 12
Aortic Insufficiency 12
Aortic Incompetence 12
Corrigan's Disease 12


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Disease Ontology 12 DOID:57
ICD9CM 34 395.1 396.3
MeSH 43 D001022
NCIt 49 C51223
ICD10 32 I06.1 I35.1
UMLS 71 C0003504 C0155568 C0264774

Summaries for Aortic Valve Insufficiency

Disease Ontology : 12 An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.

MalaCards based summary : Aortic Valve Insufficiency, also known as aortic regurgitation, is related to aortic aneurysm, familial thoracic 1 and aneurysm. An important gene associated with Aortic Valve Insufficiency is NPPB (Natriuretic Peptide B). The drugs Metoprolol and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and lung, and related phenotype is cardiovascular system.

Wikipedia : 74 Aortic insufficiency (AI), also known as aortic regurgitation (AR), is the leaking of the aortic valve... more...

Related Diseases for Aortic Valve Insufficiency

Diseases in the Aortic Valve Insufficiency family:

Aortic Valve Disease 1 Aortic Valve Disease 2
Aortic Valve Disease 3

Diseases related to Aortic Valve Insufficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 545)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 1 32.9 GATA5 FBN1 ELN ACTA2
2 aneurysm 31.5 FBN1 ELN ACTA2
3 aortic dissection 31.1 FBN1 ELN ACTA2
4 aortitis 31.1 SRSF6 MRAP ELN CRP
5 aortic aneurysm 31.0 FBN1 ELN CRP ACTA2 ACE
6 cardiogenic shock 31.0 NPPB CRP
7 angina pectoris 30.9 NPPB CRP ACE
8 atrioventricular block 30.9 NPPB CA5B ACE
9 heart septal defect 30.9 ZIC3 GATA5 ELN CA5B
10 rheumatic fever 30.7 NPPB ALB ACE
11 pulmonary edema 30.7 REN NPPB CRP ACE
12 carotid stenosis 30.6 REN CRP ACE
13 congestive heart failure 30.6 REN NPPB CRP ALB ACE
14 rheumatic heart disease 30.6 NPPB ELN ACE
15 intracranial embolism 30.6 CRP ALB ACE
16 iridocyclitis 30.6 MRAP CRP ACE
17 neuroretinitis 30.5 MRAP CRP ACE
18 mediastinitis 30.5 ZIC3 CRP ALB
19 marantic endocarditis 30.5 VWF CRP
20 pneumothorax 30.5 FBN1 ELN CRP
21 right bundle branch block 30.5 NPPB CA5B ACE
22 aortic aneurysm, familial abdominal, 1 30.5 FBN1 ELN CRP ACE
23 hypertensive heart disease 30.5 REN NPPB ACE
24 cardiac arrest 30.5 REN NPPB ALB ACE
25 peripheral vascular disease 30.4 VWF CRP ALB ACE
26 systemic scleroderma 30.4 FBN1 ELN CRP ACE
27 exanthem 30.4 CRP ALB ACE
28 eclampsia 30.4 REN ALB ACE
29 first-degree atrioventricular block 30.4 NPPB CRP ACE
30 purpura 30.4 VWF CRP ACE
31 antiphospholipid syndrome 30.4 VWF PON1 CRP
32 pericarditis 30.3 NPPB CRP ALB ACE
33 varicose veins 30.3 VWF FBN1 ELN
34 subclavian steal syndrome 30.3 IL4I1 CRP
35 kawasaki disease 30.3 NPPB CRP ALB
36 systolic heart failure 30.3 VWF NPPB CRP ACE
37 renovascular hypertension 30.3 REN NPPB ACE
38 syphilis 30.3 MRAP CRP ALB ACE
39 end stage renal disease 30.2 REN PON1 CRP ALB ACE
40 intermediate coronary syndrome 30.2 VWF CRP ACE
41 atrioventricular septal defect 30.2 ZIC3 GATA5 ELN
42 pulmonary valve insufficiency 30.2 NPPB IL4I1 CRP CA5B ARSL ACE
43 splenic abscess 30.2 CRP ALB
44 arteriosclerosis 30.2 PON1 FBN1 ELN CRP ACE
45 facial paralysis 30.2 CRP ALB ACE
46 orthostatic intolerance 30.2 REN FBN1 ELN ACTA2 ACE
47 coronary heart disease 1 30.1 VWF PON1 NPPB CRP ACE
48 sickle cell anemia 30.1 VWF CRP ALB
49 cardiac tamponade 30.1 REN NPPB IL4I1 CRP ALB ACE
50 aortic valve disease 2 30.1 VWF REN NPPB MIR223 FBN1 ELN

Comorbidity relations with Aortic Valve Insufficiency via Phenotypic Disease Network (PDN):

Aortic Valve Disease 1 Familial Atrial Fibrillation
Heart Disease Rheumatic Heart Disease
Tricuspid Valve Disease

Graphical network of the top 20 diseases related to Aortic Valve Insufficiency:

Diseases related to Aortic Valve Insufficiency

Symptoms & Phenotypes for Aortic Valve Insufficiency

MGI Mouse Phenotypes related to Aortic Valve Insufficiency:

# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.4 ACE ACTA2 ALB CRP FBN1 GATA5

Drugs & Therapeutics for Aortic Valve Insufficiency

Drugs for Aortic Valve Insufficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
Amlodipine Approved Phase 4 88150-42-9 2162
Chlorthalidone Approved Phase 4 77-36-1 2732
Losartan Approved Phase 4 114798-26-4 3961
tannic acid Approved Phase 4 1401-55-4
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
Warfarin Approved Phase 4 81-81-2 6691 54678486
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
Rivaroxaban Approved Phase 4 366789-02-8
Adalimumab Approved Phase 4 331731-18-1 16219006
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
leucovorin Approved Phase 4 58-05-9 6006 143
Tofacitinib Approved, Investigational Phase 4 477600-75-2
Abatacept Approved Phase 4 332348-12-6 10237
Hydralazine Approved Phase 4 86-54-4 3637
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
19 Adrenergic beta-Antagonists Phase 4
20 Antihypertensive Agents Phase 4
21 Sodium Chloride Symporter Inhibitors Phase 4
22 Angiotensin II Type 1 Receptor Blockers Phase 4
23 Angiotensinogen Phase 4
24 Hormones Phase 4
25 Angiotensin Receptor Antagonists Phase 4
26 Vasodilator Agents Phase 4
27 Giapreza Phase 4
28 diuretics Phase 4
29 Calcium, Dietary Phase 4
30 calcium channel blockers Phase 4
31 Antithrombins Phase 4
32 Antithrombin III Phase 4
33 Serine Proteinase Inhibitors Phase 4
34 Anticoagulants Phase 4
35 Analgesics, Non-Narcotic Phase 4
36 Fibrinolytic Agents Phase 4
37 Analgesics Phase 4
38 Platelet Aggregation Inhibitors Phase 4
39 Cyclooxygenase Inhibitors Phase 4
40 Antipyretics Phase 4
41 Antirheumatic Agents Phase 4
42 Anti-Inflammatory Agents Phase 4
43 Anti-Inflammatory Agents, Non-Steroidal Phase 4
44 Angiotensin-Converting Enzyme Inhibitors Phase 4
45 Pharmaceutical Solutions Phase 4
46 Anesthetics, Local Phase 4
47 Factor Xa Inhibitors Phase 4
48 Antibodies Phase 4
49 Immunoglobulins, Intravenous Phase 4
50 Immunologic Factors Phase 4

Interventional clinical trials:

(show top 50) (show all 141)
# Name Status NCT ID Phase Drugs
1 Effects of the Administration Of Antithrombin on the Coagulation Status and on the Inflammatory Response in Patients With Low Plasmatic Levels of Antithrombin After Cardiac Surgery Unknown status NCT01201070 Phase 4 antithrombin III
2 Effect of Beta Blockade on Left Ventricular Remodeling and Function in Moderate to Severe Asymptomatic Aortic Regurgitation Completed NCT01157572 Phase 4 Metoprolol;Placebo
3 A Randomized Comparison of Early Surgery Versus Conventional Treatment Strategy in Patients With High Embolic Risk of Infective Endocarditis Completed NCT00750373 Phase 4
4 A Prospective, Multicentre, Randomized, Open Label, Evaluator-Blind, Phase IV Study to Evaluate the Effect on Improvement of Left Ventricular Hypertrophy by the Control of Blood Pressure in Hypertension Patients With Aortic Valve Disease Recruiting NCT03666351 Phase 4 Amlodipine 5mg;Losartan;Losartan and Amlodipine;Amlodipine/Losartan/Chlorthalidone;current treatment
5 Randomized Control Study of Anticoagulation With Warfarin Por Patients With Aortic Bioprosthesis vs Aspirin Only Recruiting NCT03807921 Phase 4 Warfarin;Aspirin
6 Peripheral Nerve Blocks for Major Lower Extremity Amputations Recruiting NCT03174782 Phase 4 Bupivacaine;Saline Solution
7 Randomized Trial of Aspirin Versus Rivaroxaban After Replacement of the Aortic Valve With a Biological Valve Prosthesis Recruiting NCT02974920 Phase 4 Rivaroxaban 10 MG;Aspirin
8 A Pilot Study in the Treatment of Severe Patients With Takayasu Arteritis With Tocilizumab and Adalimumab, Based on ECTA Cohort Recruiting NCT04300686 Phase 4
9 Randomized Open-label Study in Mild and Moderate Patients With Takayasu Arteritis Between Methotrexate and Tofacitinib Based on the ECTA Cohort. Recruiting NCT04299971 Phase 4 Methotrexate Tablets;Tofacitinib tablet
10 Abatacept Bone Effects in Psoriatic Arthritis With Bone Biomarkers - ABEPSA _ BB Recruiting NCT04106804 Phase 4 Abatacept 125 MG/ML
11 The Prognostic Impact of Using High-dose Hydralazine in Severe Systolic Heart Failure With Hemodynamically Significant Mitral Regurgitation Recruiting NCT04217135 Phase 4 evidence-based medications vs. high-dose hydralazine + evidence-based medications
12 The Potential of Candesartan to Retard the Progression of Aortic Stenosis Influences of Medical Therapy to the Atheroinflammatory Process in Stenotic Aortic Valves Unknown status NCT00699452 Phase 3 candesartan;placebo
13 Conservative Aortic Valve Surgery for Aortic Insufficiency and Aneurysms of the Aortic Root Completed NCT00478803 Phase 3
14 Clinical Investigation of the Freedom SOLO Stentless Heart Valve in North America Completed NCT01115907 Phase 3
15 Interest of Cardiac Computed Tomography (CT) to Optimize and Improve the Procedure of Transcatheter Aortic Valve Implantation (TAVI) Completed NCT01672268 Phase 3
16 Molecular Mechanisms of Volume Overload-Aim 1(SCCOR in Cardiac Dysfunction and Disease) Completed NCT01052428 Phase 2, Phase 3 metoprolol succinate (Toprol XL);Placebo
17 Comparison Study of the Effect of Aliskiren Versus Negative Controls on Aortic Stiffness in Patients With Marfan Syndrome Under Treatment With Atenolol Completed NCT01715207 Phase 3 Aliskiren;Atenolol
18 Impedance Cardiography: Clinical Evaluation of Endotracheal Cardiac Output Monitor (ECOM) Completed NCT00924482 Phase 2, Phase 3
19 A Randomized Double-blind Placebo Force-titration Controlled Study With Bisoprolol in Patients With Chronic Heart Failure Secondary to Chagas´ Cardiomyopathy. Completed NCT00323973 Phase 3 Bisoprolol
20 THE TORCH TRIAL:Transcatheter Aortic Valve Replacement Single Center Registry in Chinese Population Not yet recruiting NCT02803294 Phase 3
21 Safety and Efficacy of TP10, a Complement Inhibitor, in Adult Women Undergoing Cardiopulmonary Bypass Surgery Completed NCT00082121 Phase 2 TP10
22 If Channel Blockade With Ivabradine in Patients With Diastolic Heart Failure Withdrawn NCT00757055 Phase 2 Ivabradine;Placebo
23 Reimplantation Procedure for Surgical Treatment of Ascending Aorta Aneurism With Concomitant Aortic Valve Insufficiency Unknown status NCT01456975
24 Aortic Valve Regurgitation Acquired After Left Ventricular Assist Device Implantation: an Outstanding in Vivo Model of Valvular Heart Diseases Unknown status NCT03279029
25 Registry Study of Aortic Valve Diseases in Chinese Elderly Unknown status NCT02623907
26 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
27 The Italian Society of Invasive Cardiology Registry on Percutaneous Aortic Valve Unknown status NCT02713932
28 Value of Fusion of 3D Images With 2D Images, Associated With Calcification Raising During Trans Aortic Valve Implantation Procedures Unknown status NCT03247465
29 BIVOLUTX: Bicuspid Aortic Stenosis With Evolut Platform International Experience. Unknown status NCT03495050
30 Mechanism and Early Intervention Research on Acute Lung Injury During Emergence Surgery of Acute Stanford A Aortic Dissection Unknown status NCT01894334 Ulinastatin;Tranexamic acid;Edaravone
31 Expiratory Flow Limitation and Mechanical Ventilation During Cardiopulmonary Bypass in Cardiac Surgery Unknown status NCT02633423
32 A Registry to Evaluate the Direct Flow Medical Transcatheter Aortic Valve System for the Treatment of Patients With Severe Aortic Stenosis Unknown status NCT01845285
33 Changes in Ventricular Remodeling and Exercise Cardiopulmonary Function After Transcatheter Closure of Ventricular Septal Defect Unknown status NCT03127748
34 A Prospective, Non-randomized, Multi-center Trial to Evaluate the Safety and Effectiveness of the HAART Model 300 Annuloplasty Ring When Used to Surgically Repair a Leaking Aortic Valve Using a 3-D Intra-annular Mounting Frame Completed NCT01400841
35 The HAART 300 Annuloplasty Ring Extended Safety and Performance Trial Used in Surgical Repair of the Aortic Valve Completed NCT01732835
36 Protocoled Quantitative Assessment of Aortic Regurgitation Using Videodensitometry in a Multicontinental Trial in Rotterdam, Montreal, Yamaguchi, Segeberg, Amsterdam. Completed NCT03644784
37 HAART 200 Aortic Valve Annuloplasty During Bicuspid Aortic Valve Reconstruction Trial Completed NCT02071849
38 Velocity Vector Imaging in Patients With Moderate-to-Severe Aortic Regurgitation Completed NCT00624884
39 Persistent Diastolic Dysfunction Late After Valve Replacement in Severe Aortic Regurgitation Completed NCT00976625
40 "The JenaValve" EvalUation of Long Term Performance and Safety In PaTients With SEvere Aortic Stenosis oR Aortic Insufficiency" Completed NCT01598844
41 Investigation of Myocardial Contractile Reserve by Dobutamine Stress Transesophageal Echocardiography in Aortic and Mitral Regurgitation Completed NCT00001314
42 Clinical Investigation Of The Mitroflow Aortic Pericardial Heart Valve Completed NCT00630916
43 Prospective Observation of Aortic Regurgitation After TAVI and Progress Over Time: PROGRESS PVL Registry Completed NCT02987894
44 Long Term Follow Up Study of the St. Jude Medical Trifecta™ Valve Completed NCT01593917
45 CardioCel Tri-leaflet Repair Study; a Prospective, Non-randomised, Single Arm, Multi-centre Clinical Investigation Completed NCT02629328
46 Phonokardiographie Bei Erwachsenen Completed NCT03600051
47 An Observational, Prospective Evaluation of the Trifecta Valve Completed NCT00475709
48 An Observational, Prospective Evaluation of the Trifecta Valve Completed NCT00475267
49 An Observational, Prospective Evaluation of the Trifecta™ Valve Completed NCT00727181
50 Post-Approval Study Protocol of the St. Jude Medical Biocor and Biocor Supra Valves Completed NCT00636987

Search NIH Clinical Center for Aortic Valve Insufficiency

Cochrane evidence based reviews: aortic valve insufficiency

Genetic Tests for Aortic Valve Insufficiency

Anatomical Context for Aortic Valve Insufficiency

MalaCards organs/tissues related to Aortic Valve Insufficiency:

Heart, Testes, Lung, Kidney, Brain, Liver, Bone

Publications for Aortic Valve Insufficiency

Articles related to Aortic Valve Insufficiency:

(show top 50) (show all 8364)
# Title Authors PMID Year
B-type natriuretic peptide and left ventricular dysfunction on exercise echocardiography in patients with chronic aortic regurgitation. 61 54
17974697 2008
Distinct downregulation of C-type natriuretic peptide system in human aortic valve stenosis. 61 54
17709640 2007
Brain natriuretic peptide and the severity of aortic regurgitation: is there any correlation? 54 61
16104449 2005
Relation of N-terminal pro B-type natriuretic peptide to progression of aortic valve disease. 54 61
15781428 2005
Clinical applications of B-type natriuretic peptide levels in the care of cardiovascular patients. 54 61
15729209 2004
Elevated B-type natriuretic peptide in asymptomatic men with chronic aortic regurgitation and preserved left ventricular systolic function. 61 54
15342310 2004
Associations between plasma natriuretic peptide levels, symptoms, and left ventricular function in patients with chronic aortic regurgitation. 61 54
12972129 2003
Assessing the safety and efficacy of TAVR compared to SAVR in low-to-intermediate surgical risk patients with aortic valve stenosis: An overview of reviews. 61
32434749 2020
Association between mitral regurgitation and clinical outcome after endovascular thrombectomy in stroke patients. 61
32497466 2020
Myocardial protection technique structured on cardiac mass. 61
31749412 2020
Surgical Treatment in Patients With Aortic Regurgitation Due to Takayasu Arteritis. 61
31756318 2020
Valve regurgitation in patients surviving endocarditis and the subsequent risk of heart failure. 61
31822570 2020
Use of Lifetech™ Konar-MF, a device for both perimembranous and muscular ventricular septal defects: A multicentre study. 61
32122701 2020
Prognostic implications of left ventricular global longitudinal strain in patients with bicuspid aortic valve disease and preserved left ventricular ejection fraction. 61
31633159 2020
Bicuspidization and Annuloplasty Provide a Functioning Configuration to the Unicuspid Aortic Valve. 61
31786287 2020
Clinical outcomes of self-expandable vs. balloon-expandable TAVI for severe aortic stenosis. 61
30931804 2020
Characteristics of Children with Acute Rheumatic Carditis from a High-Incidence Region: Importance of Unexplained Worsening of Functional Class. 61
32526745 2020
Vascular Complications in the Era of Transcatheter Treatment of Adult Structural Heart Disease: A Single-Center Early Experience. 61
32552506 2020
Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes. 61
32534992 2020
Early results of the ongoing Polish Registry on Valve Thrombosis after Transcatheter Aortic Valve Implantation (ZAK-POL TAVI). 61
32543799 2020
A Novel Aortic Regurgitation Model from Cusp Prolapse with Hemodynamic Validation Using an Ex Vivo Left Heart Simulator. 61
32495264 2020
Aortic regurgitation in continuous flow left ventricular assist devices for long-term use: a diagnostic and therapeutic challenge. 61
31937495 2020
Immediate Outcomes of Aortic Valve Neocuspidization with Glutaraldehyde-treated Autologous Pericardium: a Multicenter Study. 61
32549094 2020
Stepwise external wrapping procedure for Stanford type A aortic dissection in extremely high-risk patients: case reports. 61
32532284 2020
Technical Considerations for TAVR in the Treatment of Stentless Bioprosthetic Aortic Valve Insufficiency in LVAD Patients. 61
32479422 2020
Transcatheter aortic valve replacement for patients with severe bicuspid aortic stenosis. 61
32361278 2020
Sports Participation and Exercise Restriction in Children with Isolated Bicuspid Aortic Valve. 61
32291092 2020
Stage B Aortic Regurgitation in Bicuspid Aortic Valve: New Observations on Progression Rate and Predictors. 61
32192931 2020
Reexamining remodelling in children. 61
31972004 2020
The utility of aortic valve leaflet reconstruction techniques in children and young adults. 61
31864692 2020
Structural durability of early-generation Transcatheter aortic valve replacement valves compared with surgical aortic valve replacement valves in heart valve surgery: a systematic review and meta-analysis. 61
32513222 2020
Structural Valve Deterioration after Transcatheter Aortic Valve Implantation Using J-Valve: A Long-Term Follow-Up. 61
32249256 2020
Excellent hemodynamic performance after aortic valve neocuspidization (AVNeo) using autologous pericardium. 61
32540439 2020
Aortic root morphology can cause early bioprosthetic valve failure of externally mounted pericardial bioprosthesis. 61
32535818 2020
Myocardial ischaemia and valve insufficiency caused by a dysplastic aortic valve cusp: a previously unreported unique morphologic anomaly. 61
32522310 2020
Pathophysiology of the aortic regurgitation Doppler signal end-diastolic notching: "A-dip insight". 61
32562578 2020
Aortic regurgitation resulted from traumatic leaflet tear due to calcified amorphous tumour. 61
32542345 2020
Altered stresses and dynamics after single and double annuloplasty ring for aortic valve repair. 61
32031602 2020
Asymptomatic chronic traumatic aortic valve perforation with severe aortic regurgitation. 61
32557814 2020
Thrombectomy and reconstruction of the left vertebral artery after total arch replacement: never give up on postoperative stroke. 61
30875004 2020
Comparisons of perventricular device closure, conventional surgical repair, and transcatheter device closure in patients with perimembranous ventricular septal defects: a network meta-analysis. 61
32456641 2020
Clinical Management and Long-Term Prognosis of Combined Left-Sided Valvular Heart Disease. 61
32350205 2020
Cardiac auscultation skills among junior doctors: effects of sound simulation lesson. 61
32434152 2020
Cardiac magnetic resonance assessment of left ventricular dilatation in chronic severe left-sided regurgitations: comparison with standard echocardiography. 61
32451308 2020
Impact of Predilatation Prior to Transcatheter Aortic Valve Implantation With the Self-Expanding Acurate neo Device (from the Multicenter NEOPRO Registry). 61
32098656 2020
Additional cusp reconstruction does not compromise valve durability and mid-term survival after the David procedure: results from 449 patients. 61
32408342 2020
Comparison of acute recoil after valve deployment and after post-dilation in patients undergoing transfemoral-transcatheter aortic valve replacement with SAPIEN-3 valve. 61
32427426 2020
Transcatheter aortic valve replacement with the balloon-expandable SAPIEN 3 valve: Impact of calcium score on valve performance and clinical outcomes. 61
32139241 2020
Typical angina in a patient with Takayasu arteritis. 61
31364802 2020
A four-leaf clover: A case report of quadricuspid aortic valve stenosis. 61
32163624 2020

Variations for Aortic Valve Insufficiency

ClinVar genetic disease variations for Aortic Valve Insufficiency:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;inv(6)(p22q13)dninversion Pathogenic 267941
2 FBN1 NM_000138.4(FBN1):c.139G>A (p.Gly47Ser)SNV Uncertain significance 200029 rs762400500 15:48936828-48936828 15:48644631-48644631

Expression for Aortic Valve Insufficiency

Search GEO for disease gene expression data for Aortic Valve Insufficiency.

Pathways for Aortic Valve Insufficiency

GO Terms for Aortic Valve Insufficiency

Cellular components related to Aortic Valve Insufficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 VWF REN PON1 NPPB IL4I1 FBN1
2 extracellular space GO:0005615 9.32 REN PON1 NPPB MIR374B MIR223 FBN1

Biological processes related to Aortic Valve Insufficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta metabolic process GO:0050435 9.16 REN ACE
2 angiotensin maturation GO:0002003 8.96 REN ACE
3 regulation of blood pressure GO:0008217 8.92 REN NPPB ACTA2 ACE

Molecular functions related to Aortic Valve Insufficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix constituent conferring elasticity GO:0030023 8.96 FBN1 ELN
2 drug binding GO:0008144 8.8 HTR2B ALB ACE

Sources for Aortic Valve Insufficiency

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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