AOVD1
MCID: ART115
MIFTS: 78

Aortic Valve Disease 1 (AOVD1)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Aortic Valve Disease 1

MalaCards integrated aliases for Aortic Valve Disease 1:

Name: Aortic Valve Disease 1 57 11 73 28 5 14 71
Aortic Valve Disease 57 11 73 12 53 43 14 16 33
Bicuspid Aortic Valve 57 75 73 28 53 5 33
Bicuspid Aortic Valve Disease 11 43 14
Aortic Valve Disorder 28 5 71
Familial Bicuspid Aortic Valve 11 58
Aortic Valve Calcification 16 71
Aovd1 57 73
Bav 57 73
Abnormality of the Aortic Valve 5
Aortic Valve, Calcification of 57
Calcification of Aortic Valve 73
Aortic Valve Disease, Type 1 38
Bicommissural Aortic Valve 33
Aortic Stenosis, Calcific 57
Calcific Aortic Stenosis 73
Aortic Valve, Bicuspid 57
Aortic Valve Disease 2 71
Familial Bav 58
Aovd 57

Characteristics:


Inheritance:

Aortic Valve Disease 1: Autosomal dominant 57
Familial Bicuspid Aortic Valve: Autosomal dominant 58

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Aortic Valve Disease 1

OMIM®: 57 Bicuspid, or bicommissural, aortic valve (BAV) describes an aortic valve with 2 rather than 3 leaflets (Cripe et al., 2004). In 1 to 2% of the population a bicuspid aortic valve is present. Bicuspid aortic valve is frequently an antecedent to aortic valve stenosis or insufficiency. In extreme cases the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome (241550) (Garg et al., 2005). The valve calcification often observed in bicuspid aortic valve is a result of inappropriate activation of osteoblast-specific gene expression. Mutations in the signaling and transcription regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in nonsyndromic autosomal dominant human pedigrees. (109730) (Updated 08-Dec-2022)

MalaCards based summary: Aortic Valve Disease 1, also known as aortic valve disease, is related to aortic valve insufficiency and loeys-dietz syndrome 4. An important gene associated with Aortic Valve Disease 1 is NOTCH1 (Notch Receptor 1), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Amlodipine and Chlorthalidone have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and smooth muscle, and related phenotypes are bicuspid aortic valve and coarctation of aorta

Orphanet: 58 Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

UniProtKB/Swiss-Prot: 73 A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome.

Disease Ontology 11 Aortic valve disease 1: A bicuspid aortic valve disease that has material basis in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.

Bicuspid aortic valve disease: An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives.

Wikipedia: 75 Bicuspid aortic valve (aka BAV) is a form of heart disease in which two of the leaflets of the aortic... more...

Related Diseases for Aortic Valve Disease 1

Diseases in the Aortic Valve Insufficiency family:

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

Diseases related to Aortic Valve Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 474)
# Related Disease Score Top Affiliating Genes
1 aortic valve insufficiency 33.1 NKX2-5 MYH11 GATA5 FBN1 ELN EFEMP2
2 loeys-dietz syndrome 4 32.7 MYH11 FBN1 ELN
3 aortic valve disease 2 32.4 SMAD6 NOTCH1 NKX2-5 FBN1 ELN
4 aortic aneurysm 31.9 ROBO4 NOTCH1 MYH11 FBN1 ELN EFEMP2
5 left ventricular noncompaction 31.8 NOTCH1 NKX2-5 JAG1 HEY2 FBN1 DSP
6 heart valve disease 31.8 NKX2-5 FBN1 ELN
7 aortic dissection 31.6 MYH11 FBN1 ELN EFEMP2 ACTA2
8 lipoprotein quantitative trait locus 31.6 NOTCH1 NKX2-5 MYH11 H19 FBN1 ELN
9 aortic disease 31.6 MYH11 FBN1 ELN EFEMP2 ACTA2
10 hypoplastic left heart syndrome 31.5 SMAD6 ROBO4 NOTCH1 NKX2-5 JAG1 HEY2
11 loeys-dietz syndrome 31.5 SMAD6 NOTCH1 MYH11 FBN1 ELN EFEMP2
12 supravalvular aortic stenosis 31.5 MYH11 FBN1 ELN EFEMP2 ACTA2
13 hypertrophic cardiomyopathy 31.5 SOS1 NKX2-5 MYH11 MT-ATP8 MT-ATP6 FBN1
14 mitral valve insufficiency 31.5 MYH11 FBN1 ELN
15 heart septal defect 31.3 SOS1 NOTCH1 NKX2-5 JAG1 HEY2 GATA5
16 aortic aneurysm, familial thoracic 4 31.3 NOTCH1 MYH11 JAG1 FBN1 ACTA2
17 ventricular septal defect 31.3 NOTCH1 NKX2-5 JAG1 HEY2 GATA5
18 aortic aneurysm, familial thoracic 1 31.3 SMAD6 ROBO4 NOTCH1 NKX2-5 MYH11 JAG1
19 aortic aneurysm, familial abdominal, 1 31.2 MYH11 H19 FBN1 ELN EFEMP2 ACTA2
20 marfan syndrome 31.1 FBN1 ELN ACTA2
21 heart disease 31.1 TAB2 SOS1 SMAD6 NOTCH1 NKX2-5 JAG1
22 subclavian artery aneurysm 31.1 FBN1 ELN
23 noonan syndrome 1 31.0 TAB2 SOS1 NOTCH1 NKX2-5 JAG1 FBN1
24 dilated cardiomyopathy 31.0 SOS1 NOTCH1 NKX2-5 MYH11 FBN1 ELN
25 orthostatic intolerance 31.0 NKX2-5 MYH11 FBN1 ELN EFEMP2 ACTA2
26 double outlet right ventricle 31.0 NOTCH1 NKX2-5 JAG1 HEY2 GATA5
27 arterial tortuosity syndrome 30.9 MYH11 FBN1 ELN EFEMP2 ACTA2
28 atrioventricular septal defect 30.9 NOTCH1 NKX2-5 HEY2 GATA5
29 pulmonary valve stenosis 30.9 SOS1 NKX2-5 JAG1
30 diaphragmatic hernia, congenital 30.9 ROBO4 FBN1 ELN EFEMP2
31 aortitis 30.8 FBN1 ELN
32 patent ductus arteriosus 1 30.8 SOS1 NOTCH1 NKX2-5 MYH11 JAG1 GATA5
33 tetralogy of fallot 30.8 SOS1 NOTCH1 NKX2-5 MYH11 JAG1 HEY2
34 atrial heart septal defect 30.8 SOS1 NOTCH1 NKX2-5 MYH11 JAG1 HEY2
35 tricuspid valve stenosis 30.8 NKX2-5 HEY2
36 patent foramen ovale 30.8 TAB2 SOS1 NKX2-5 JAG1 GATA5 FBN1
37 heart, malformation of 30.7 SMAD6 JAG1
38 williams-beuren syndrome 30.7 NKX2-5 MYH11 FBN1 ELN EFEMP2 ACTA2
39 arteriovenous malformation 30.7 NOTCH1 JAG1 HEY2 HEY1
40 adams-oliver syndrome 30.7 NOTCH1 JAG1 HEY2 HEY1
41 pulmonary valve disease 30.6 SOS1 NKX2-5 FBN1
42 tricuspid valve prolapse 30.5 FBN1 EFEMP2
43 pulmonary valve insufficiency 30.3 NKX2-5 FBN1
44 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 11.8
45 holt-oram syndrome 11.3
46 potocki-lupski syndrome 11.3
47 shone complex 11.3
48 periventricular nodular heterotopia 1 11.3
49 congenital heart defects, multiple types, 2 11.3
50 persistent left superior vena cava connecting through coronary sinus to left-sided atrium 11.3

Comorbidity relations with Aortic Valve Disease 1 via Phenotypic Disease Network (PDN): (show top 50) (show all 69)


Acquired Thrombocytopenia Active Peptic Ulcer Disease
Acute Cystitis Acute Kidney Failure
Acute Myocardial Infarction Aortic Aneurysm
Aortic Atherosclerosis Aortic Valve Disease 2
Aortic Valve Insufficiency Atrioventricular Block
Basilar Artery Insufficiency Benign Essential Hypertension
Bronchitis Cardiac Arrest
Cardiogenic Shock Cerebral Atherosclerosis
Cerebrovascular Disease Chronic Intestinal Vascular Insufficiency
Chronic Kidney Disease Decubitus Ulcer
Deficiency Anemia Dental Caries
Disseminated Intravascular Coagulation Dressler's Syndrome
Epilepsy, Focal, with Speech Disorder and with or Without Impaired Intellectual Development Esophagitis
Familial Atrial Fibrillation First-Degree Atrioventricular Block
Generalized Atherosclerosis Gout
Heart Disease Hemopericardium
Hypertension, Essential Hypertrophic Cardiomyopathy
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome Hypothyroidism
Idiopathic Interstitial Pneumonia Intermediate Coronary Syndrome
Intracranial Embolism Intracranial Thrombosis
Iron Deficiency Anemia Kidney Disease
Left Bundle Branch Hemiblock Malignant Essential Hypertension
Marfan Syndrome Mitral Valve Disease
Mitral Valve Stenosis Mobitz Type Ii Atrioventricular Block
Nutmeg Liver Osteoporosis

Graphical network of the top 20 diseases related to Aortic Valve Disease 1:



Diseases related to Aortic Valve Disease 1

Symptoms & Phenotypes for Aortic Valve Disease 1

Human phenotypes related to Aortic Valve Disease 1:

58 30 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bicuspid aortic valve 58 30 Obligate (100%) Obligate (100%)
HP:0001647
2 coarctation of aorta 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001680
3 aortic valve calcification 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004380
4 aortic valve stenosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001650
5 aortic regurgitation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001659
6 heart murmur 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030148
7 thoracic aorta calcification 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004962
8 hypertension 58 30 Frequent (33%) Frequent (79-30%)
HP:0000822
9 aortic arch aneurysm 30 Frequent (33%) HP:0005113
10 hypoplastic left heart 58 30 Very rare (1%) Very rare (<4-1%)
HP:0004383
11 ascending aortic dissection 58 30 Very rare (1%) Very rare (<4-1%)
HP:0004933
12 abnormal left ventricular outflow tract morphology 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011103
13 ventricular septal defect 30 Very rare (1%) HP:0001629
14 mitral stenosis 30 Very rare (1%) HP:0001718
15 mitral atresia 30 Very rare (1%) HP:0011560
16 double outlet right ventricle 30 Very rare (1%) HP:0001719
17 dilatation of the aortic arch 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
bicuspid aortic valve
aortic calcification
aortic stenosis
mitral stenosis (rare)
mitral valve atresia (rare)
more
Cardiovascular Vascular:
aneurysm of ascending aorta

Clinical features from OMIM®:

109730 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Aortic Valve Disease 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.31 ACTA2 DSP EFEMP2 ELN FBN1 GATA5
2 cardiovascular system MP:0005385 10.16 ACTA2 DSP EFEMP2 ELN FBN1 GATA5
3 cellular MP:0005384 10.1 DSP EFEMP2 FBN1 GATA5 HEY1 JAG1
4 embryo MP:0005380 10.06 DSP FBN1 HEY1 HEY2 JAG1 NKX2-5
5 craniofacial MP:0005382 9.97 DSP FBN1 HEY1 HEY2 JAG1 NKX2-5
6 mortality/aging MP:0010768 9.83 DSP EFEMP2 ELN FBN1 GATA5 HEY1
7 respiratory system MP:0005388 9.76 EFEMP2 ELN FBN1 HEY2 MYH11 NKX2-5
8 integument MP:0010771 9.4 DSG1 DSP EFEMP2 FBN1 GATA5 JAG1

Drugs & Therapeutics for Aortic Valve Disease 1

Drugs for Aortic Valve Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 163)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 4 88150-42-9 2162
2
Chlorthalidone Approved Phase 4 77-36-1 2732
3
Ticagrelor Approved Phase 4 274693-27-5 9871419
4
Vancomycin Approved Phase 4 1404-90-6 14969
5
Cefazolin Approved Phase 4 25953-19-9 33255
6
Rivaroxaban Approved Phase 4 366789-02-8 9875401
7
Phylloquinone Approved, Investigational Phase 4 84-80-0 5284607
8
Acenocoumarol Approved, Investigational Phase 4 152-72-7 54676537 9052
9
Phenprocoumon Approved, Investigational Phase 4 435-97-2 54680692 9908
10
Dabigatran Approved, Investigational Phase 4 211914-51-1 216210
11
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
12
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
13
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
14
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
15 Menaquinone Investigational Phase 4 1182-68-9
16 Vasodilator Agents Phase 4
17 Sodium Chloride Symporter Inhibitors Phase 4
18 Anti-Bacterial Agents Phase 4
19 Anti-Infective Agents Phase 4
20 Vitamins Phase 4
21 Trace Elements Phase 4
22 Micronutrients Phase 4
23 Factor Xa Inhibitors Phase 4
24 HIV Protease Inhibitors Phase 4
25 Serine Proteinase Inhibitors Phase 4
26 Antithrombins Phase 4
27 Antithrombin III Phase 4
28
protease inhibitors Phase 4
29 Vitamin K Phase 4
30 Antifibrinolytic Agents Phase 4
31 Hemostatics Phase 4
32
Naphthoquinone Phase 4
33 Coagulants Phase 4
34 Cardioplegic Solutions Phase 4
35 Protamines Phase 4
36 Dipeptidyl-Peptidase IV Inhibitors Phase 4
37 Pharmaceutical Solutions Phase 4
38 Anesthetics Phase 4
39 Anesthetics, Local Phase 4
40 Epinephryl borate Phase 4
41 Carticaine Phase 4
42
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
43
Colchicine Approved Phase 3 64-86-8 2833 6167
44
Atorvastatin Approved Phase 3 134523-00-5 60823
45
Ezetimibe Approved Phase 3 163222-33-1 150311
46
Evolocumab Approved Phase 3 1256937-27-5
47
Apixaban Approved Phase 3 503612-47-3 10182969
48
Atenolol Approved Phase 3 29122-68-7 2249
49
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
50 Vitamin K 1 Phase 3

Interventional clinical trials:

(show top 50) (show all 213)
# Name Status NCT ID Phase Drugs
1 Preventing Contrast Induced Nephropathy After Transcatheter Aortic Valve Replacement Unknown status NCT03121053 Phase 4 sodium bicarbonate;hypotone saline
2 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 Completed NCT03666351 Phase 4 Amlodipine 5mg;Losartan;Losartan and Amlodipine;Amlodipine/Losartan/Chlorthalidone;current treatment
3 Antiplatelet Therapy for Patients Undergoing Transcatheter Aortic Valve Implantation Completed NCT02247128 Phase 4 Aspirin + clopidogrel;Aspirin monotherapy;OAC + clopicogrel;OAC monotherapy
4 Randomized Control Study of Anticoagulation With Warfarin Por Patients With Aortic Bioprosthesis vs Aspirin Only Completed NCT03807921 Phase 4 Warfarin;Aspirin
5 Aspirin Versus Aspirin + ClopidogRel as Antithrombotic Treatment Following Transcatheter Aortic Valve Implantation With the Edwards Valve. A Randomized Study (the ARTE Trial) Completed NCT02640794 Phase 4 Clopidogrel;Aspirin
6 Aspirin Versus Aspirin + ClopidogRel as Antithrombotic Treatment Following Transcatheter Aortic Valve Implantation With the Edwards SAPIEN XT Valve. A Randomized Pilot Study (the ARTE Trial) Completed NCT01559298 Phase 4 Aspirin (80 mg/d) + clopidogrel (75 mg/d);Aspirin
7 Effect of Pre-operative Prophylaxis With Vancomycin on Rate of Cefazolin Non-susceptible Gram Positive Surgical Site Infections in Cardiovascular Surgery Patients Completed NCT01619982 Phase 4 Cefazolin 25 mg/kg body weight and Vancomycin hydrochloride;Cefazolin 30 mg/kg body weight
8 Periprocedural Continuation Versus Interruption of Oral Anticoagulant Drugs During Transcatheter Aortic Valve Implantation (POPular PAUSE TAVI) Recruiting NCT04437303 Phase 4 Continuation of oral anticoagulants;Interruption of oral anticoagulants
9 Effects of Microplegia on Transfusion Rates After Cardiac Surgery: A Randomized Prospective Analysis Recruiting NCT05076604 Phase 4 Cardioplegia Solution;Microplegic Solution No. 1
10 Randomized, Evaluation of Long-term Anticoagulation With Oral Factor Xa Inhibitor Versus Vitamin K Antagonist After Mechanical Aortic Valve Replacement Recruiting NCT04258488 Phase 4 Rivaroxaban Oral Tablet;Vitamin K antagonist(warfarin)
11 An Open-label, Randomized Study of Inhibitory Effect of Evogliptin, the Dipeptidyl Peptidase-4 Inhibitor, on the Progression of Aortic Valve Calcification in Patients With Type 2 Diabetes Mellitus and Mild-to-moderate Aortic Stenosis Not yet recruiting NCT04521452 Phase 4 Evogliptin
12 Comparison of Periosteal and Subcutaneous Infusions of Articaine and Bupivacaine in Treatment of Acute Pain After Sternotomy Suspended NCT01536717 Phase 4 Articaine hydrochloride 2% solution;Sodium Chloride
13 A Prospective Randomized Double Blind Multicenter Phase III Study Comparing Two Methods of Cardioplegia in Aortic Valve Surgery Custodiol-N Versus Custodiol Completed NCT02098772 Phase 3 Custodiol-N;Custodiol
14 Evaluating the Effectiveness of Atorvastatin on the Progression of Aortic Dilatation and Valvular Degeneration in Patients With Bicuspid Aortic Valve (BICATOR) Completed NCT02679261 Phase 3 Atorvastatin;Placebo
15 Vitamin K Containing Nutritional Supplement for Activation of Matrix-GIa-proteins (MGP) and Inhibition of Aortic Valve Calcification Process Completed NCT00785109 Phase 3
16 An Adaptive Phase 2/3 Multicenter, Double-Blind, Placebo-Controlled, Randomized, Parallel, 3 Arm Study to Evaluate the Efficacy and Safety of DA-1229 (Evogliptin) in Patient's Calcific Aortic Valve Disease With Mild to Moderate Aortic Stenosis (EVOID-AS) Recruiting NCT05143177 Phase 2, Phase 3 Evogliptin;Placebo
17 Does Colchicine Reduce Progression of Aortic Valve Stenosis? Recruiting NCT05162742 Phase 3 Colchicine;Placebo
18 Effect of PCSK9 Inhibitors on Calcific Aortic Valve Disease:a Prospective Randomized Controlled Trial Recruiting NCT04968509 Phase 3 PCSK9 inhibitor and Statin;Statin
19 A Prospective, Randomized, Active (Warfarin) Controlled, Parallel-arm Clinical Trial to Determine if Participants With an On-X Aortic Valve Can be Maintained Safely and Effectively on Apixaban Active, not recruiting NCT04142658 Phase 3 Apixaban 5 MG;Apixaban 2.5 MG;Warfarin
20 A Prospective, Multi-center,Randomized Controled Trial of Sizing-strategy of Bicuspid Aortic Valve Stenosis With Transcatheter Self-expandable Valve Not yet recruiting NCT02541877 Phase 3
21 Beta Blockers and Angiotensin Receptor Blockers in Bicuspid Aortic Valve Disease Aortopathy (BAV Study) Terminated NCT01202721 Phase 3 Atenolol;Telmisartan
22 Decalcification of the Aortic Valve by Vitamin K2 (Menaquinone-7) Unknown status NCT03305536 Phase 2
23 Bicuspid Aortic Valve Stenosis and the Effect of vItamin K2 on Calciummetabolism on 18F-NaF PET/MRI (BASIK2): a Pilot Study Unknown status NCT02917525 Phase 2
24 A Phase II Randomized, Placebo-Controlled, Double-Blinded Study Evaluating the Effects of Ataciguat (HMR1766) on Aortic Valve Calcification in Patients With Moderate Calcific Aortic Valve Stenosis Completed NCT02481258 Phase 2 Ataciguat (HMR1766)
25 SALTIRE II: Bisphosphonates and RANKL Inhibition in Aortic Stenosis Completed NCT02132026 Phase 2 Denosumab;Alendronic Acid;Denosumab Placebo;Alendronic Acid Placebo
26 A Multicenter, Double-blind, Placebo-controlled, Stratified-randomized, Parallel, Therapeutic Exploratory Clinical Study to Evaluate the Efficacy and Safety of DA-1229 in Patients With Calcific Aortic Valve Disease Active, not recruiting NCT04055883 Phase 2 DA-1229
27 A Prospective, Randomized, Controlled, Multi-Center Study to Establish the Safety and Effectiveness of Transcatheter Aortic Valve Raplacemet in Intermediate Risk Patients Who Have Severe, Calcific, Bicuspid, Aortic Stenosis Requiring Aortic Valve Replacement Not yet recruiting NCT03163329 Phase 2
28 This is a Prospective, Open-label Phase 2 Pilot Study With Independent Evaluation of All Outcomes and a Historical Control Group to Determine if Rivaroxaban (Xarelto) is Feasible and Safe for Prevention of Major Complications in Patients Undergoing a Mechanical Aortic Heart Valve Replacement. Terminated NCT02128841 Phase 2 Rivaroxaban
29 Risk Markers of Coronary Artery Disease Associated With Calcific Aortic Valve Disease Unknown status NCT00375336
30 A Pilot,Randomized Controlled-trial of Lipoprotein(a) Lowering for the Prevention of Aortic Valve Disease-translating Genomic Knowledge for Cardiovascular Prevention Unknown status NCT02109614 Early Phase 1 Extended release Niacin;Placebo Comparator
31 Catheter-Based Transapical Implantation of the Ventor Embracer™ Heart Valve Prosthesis in Patients With Severe Aortic Valve Disease Unknown status NCT00677638
32 Long-Term Follow-up After the Autograft Aortic Valve Procedure (Ross Operation)-the German-Dutch- Ross Registry Unknown status NCT00708409
33 Proof of Concept of Model Based Cardiovascular Prediction Unknown status NCT02591940
34 Efficacy and Safety Evaluation for The Interventional Aortic Valve Bioprosthesis and Delivery System in Patients With Severe Aortic Stenosis and/or Aortic Regurgitation With Elevated Surgical Risk Unknown status NCT03025971
35 Spanish Percutaneous Aortic INtervention REGISTRY (SPAIN REGISTRY) Unknown status NCT04307888
36 VIenna Pilot Study for Automated Annular Suturing Technology to Assist in Aortic & Mitral Valve Replacement - A Single-center Clinical Safety & Feasibility Pilot Trial Unknown status NCT04659655
37 Registry Study of Aortic Valve Diseases in Chinese Elderly Unknown status NCT02623907
38 Feasibility of Delivering Enhanced Recovery After Cardiac Surgery Unknown status NCT03859102 Oral Gabapentin pre-op;Oral Lansoprazole pre-op;Intravenous Paracetamol intra-operatively;Intravenous Dexamethasone intra-operatively;Intravenous Ondansetron intra-operatively;Infiltration of surgical wounds with local anaesthetic;Intravenous Magnesium intra-operatively;Post-operative Gabapentin analgesia;Post-operative oral Paracetamol analgesia;Post-operative Ondansetron anti-emesis
39 Impact of Anesthesia Technique on Post-operative Delirium After Transcatheter Aortic Valve Implantation Unknown status NCT03323619
40 Smart - Systems Medicine of Heart Failure Unknown status NCT03172338
41 Early Outcomes of Concomitant Transcatheter Aortic Valve Implantation and Off-pump Coronary Artery Bypass Grafting in Management of Severe Symptomatic Aortic Stenosis and Coronary Artery Disease Unknown status NCT04525339
42 Clinical Evaluation of the Safety and Performance of the MicroPort's Transcatheter Aortic Valve and Delivery System for Treatment of Severe Aortic Stenosis Unknown status NCT02221921
43 Aortic Valve Dynamics During Exercise After Valve Sparing Root Replacement Surgery Unknown status NCT04205474
44 BIVOLUTX: Bicuspid Aortic Stenosis With Evolut Platform International Experience. Unknown status NCT03495050
45 Whole Exome Sequencing in Bicuspid Aortic Valve Patients Unknown status NCT02899624
46 Bicuspid aoRtic vAlVe gEnetic Research - BRAVE Study Unknown status NCT04514445
47 Clinical Evaluation of the Safety and Performance of Percutaneous Implantation of the Venus MedTech Aortic Valve Prosthesis for Patients Who Cannot Undergo Surgical Valve Replacement Unknown status NCT01683474
48 Left Ventricular Reverse Remodeling in Aortic Valve Replacement With Single Strip Pericardium and Mechanical Valve: A Comparative Study Unknown status NCT04056832
49 Prevalence and Significance of Mutations in Genes Encoding NaPi-co-transporters in the Development of CAVD Unknown status NCT02516800
50 Accuracy of Using 2D Transesophageal Echocardiography Compared to Balloon Sizing in Determining Valve Size During Transcatheter Aortic Valve Implantation Unknown status NCT04242225

Search NIH Clinical Center for Aortic Valve Disease 1

Cochrane evidence based reviews: aortic valve disease

Genetic Tests for Aortic Valve Disease 1

Genetic tests related to Aortic Valve Disease 1:

# Genetic test Affiliating Genes
1 Aortic Valve Disease 1 28 NOTCH1
2 Bicuspid Aortic Valve 28
3 Aortic Valve Disorder 28

Anatomical Context for Aortic Valve Disease 1

Organs/tissues related to Aortic Valve Disease 1:

MalaCards : Heart, Endothelial, Smooth Muscle, Whole Blood, Myeloid, Kidney, Bone
ODiseA: Heart

Publications for Aortic Valve Disease 1

Articles related to Aortic Valve Disease 1:

(show top 50) (show all 7937)
# Title Authors PMID Year
1
Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 53 62 57 5
16729972 2006
2
Mutations in NOTCH1 cause aortic valve disease. 53 62 57 5
16025100 2005
3
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. 57 5
18593716 2008
4
Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. 53 62 57
17662764 2007
5
Deregulation of Notch1 pathway and circulating endothelial progenitor cell (EPC) number in patients with bicuspid aortic valve with and without ascending aorta aneurysm. 62 57
30218064 2018
6
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families. 62 5
26820064 2016
7
Genetic associations with valvular calcification and aortic stenosis. 62 57
23388002 2013
8
Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. 62 57
17676603 2007
9
Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. 62 57
17203300 2007
10
Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. 62 57
15690347 2005
11
Autosomal dominant inheritance of left ventricular outflow tract obstruction. 62 57
15712195 2005
12
Bicuspid aortic valve is heritable. 62 57
15234422 2004
13
Ascending aortic aneurysm and dissection in young adults with bicuspid aortic valve: implications for echocardiographic surveillance. 62 57
9631276 1998
14
Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance. 62 57
8723060 1996
15
Congenitally bicuspid aortic valve in multiple family members. 62 57
8109558 1994
16
Association of aortic dilation with regurgitant, stenotic and functionally normal bicuspid aortic valves. 62 57
1732353 1992
17
Aortic aneurysm in patients with functionally normal or minimally stenotic bicuspid aortic valve. 62 57
2006634 1991
18
Echocardiography reveals a high incidence of bicuspid aortic valve in Turner syndrome. 62 57
6848727 1983
19
Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families. 62 57
737099 1978
20
Association of congenital bicuspid aortic valve and erdheim's cystic medial necrosis. 62 57
4112361 1972
21
The congenitally bicuspid aortic valve. A study of 85 autopsy cases. 62 57
5427836 1970
22
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 5
27760138 2016
23
Dissection of the aorta associated with congenital malformation of the aortic valve. 57
1993792 1991
24
[Expression of fibrillin-1 in congenital bicuspid aortic valves]. 53 62
17785109 2007
25
[Gene polymorphisms leading to calcified and stenotic aortic valves]. 53 62
17072776 2006
26
Molecular genetics of aortic valve disease. 53 62
16601454 2006
27
Tissue microarray detection of matrix metalloproteinases, in diseased tricuspid and bicuspid aortic valves with or without pathology of the ascending aorta. 53 62
15541969 2004
28
Vascular matrix remodeling in patients with bicuspid aortic valve malformations: implications for aortic dilatation. 53 62
14502156 2003
29
Long noncoding TSI attenuates aortic valve calcification by suppressing TGF-β1-induced osteoblastic differentiation of valve interstitial cells. 62
36273649 2023
30
Structural abnormalities in the non-dilated ascending aortic wall of bicuspid aortic valve patients. 62
36155835 2023
31
Bioprosthetic valve dysfunction and failure after TAVI in bicuspid aortic valve stenosis during one-year follow-up according to VARC-3. 62
35767098 2022
32
Tricuspid Aortic Valve Reconstruction with Autologous Pericardium (Ozaki Technique) in Bicuspid Aortic Valve Infective Endocarditis. 62
36459473 2022
33
The impact of bicuspid aortic valve morphology on von Willebrand factor function in patients with severe aortic stenosis and its change after TAVI. 62
35838799 2022
34
Isometric Exercise Increases the Diameter of the Ascending Aorta in Youth with Bicuspid Aortic Valves. 62
35768732 2022
35
Ciprofloxacin exacerbates dysfunction of smooth muscle cells in a microphysiological model of thoracic aortic aneurysm. 62
36472912 2022
36
Sex-specific correlates of valvular and arterial calcification burden in patients with moderate aortic stenosis. 62
36455993 2022
37
A rare case of isolated single coronary artery, Lipton's type LIIB diagnosed by computed tomography coronary angiography. 62
36204404 2022
38
Anatomical and Clinical Factors Associated With Valvulopathy and Aortopathy in Mexican Patients With Bicuspid Aortic Valves. 62
36163051 2022
39
Thoracic and Thoracoabdominal Aneurysms: Etiology, Epidemiology, and Natural History. 62
36328622 2022
40
Commentary: Use the force: Gaining mechanistic insights on aortic valve calcification using magnetic twisting cytometry. 62
34657719 2022
41
Fate of moderate aortic regurgitation after cardiac surgery. 62
33610367 2022
42
Micromechanical force promotes aortic valvular calcification. 62
34507817 2022
43
Recent lipoprotein(a) trials. 62
36345866 2022
44
Association Between Omega-3 Fatty Acid Levels and Aortic Valve Calcium (from the Multi-Ethnic Study of Atherosclerosis). 62
36127180 2022
45
Return to work after coronary artery bypass grafting and aortic valve replacement surgery: A scoping review. 62
34057755 2022
46
All Aortic Valve Diseases Taken Together Are Not Associated With Obesity. 62
36413398 2022
47
Time trends in the epidemiology of nonrheumatic aortic valve disease in Spain, 2003-2018. 62
35662678 2022
48
Lipoproteins and Calcific Aortic Valve Disease: Hardening Evidence? 62
36134565 2022
49
Global Burden and Improvement Gap of Non-Rheumatic Calcific Aortic Valve Disease: 1990-2019 Findings from Global Burden of Disease Study 2019. 62
36431213 2022
50
Left ventricular remodelling in bicuspid aortic valve disease. 62
34966913 2022

Variations for Aortic Valve Disease 1

ClinVar genetic disease variations for Aortic Valve Disease 1:

5 (show top 50) (show all 680)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-ATP8 NC_012920.1:m.8420_8421insATA INSERT Pathogenic
626321 rs1569484208 GRCh37: MT:8418-8419
GRCh38: MT:8418-8419
2 MT-ATP6 NC_012920.1:m.8751_8752insAAA INSERT Pathogenic
590899 rs1569484234 GRCh37: MT:8750-8751
GRCh38: MT:8750-8751
3 NOTCH1 NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) SNV Pathogenic
12476 rs41309764 GRCh37: 9:139402690-139402690
GRCh38: 9:136508238-136508238
4 NOTCH1 NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs) DEL Pathogenic
12477 rs41309766 GRCh37: 9:139399836-139399836
GRCh38: 9:136505384-136505384
5 NOTCH1 NOTCH1, PRO1797HIS SNV Pathogenic
635566 GRCh37:
GRCh38:
6 SMAD6 NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu) SNV Pathogenic
590966 rs1567092020 GRCh37: 15:66996366-66996366
GRCh38: 15:66704028-66704028
7 NOTCH1 NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter) SNV Pathogenic
374271 rs1057518661 GRCh37: 9:139391843-139391843
GRCh38: 9:136497391-136497391
8 NOTCH1 NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter) SNV Pathogenic
221998 rs1057515422 GRCh37: 9:139407501-139407501
GRCh38: 9:136513049-136513049
9 NOTCH1 NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter) SNV Pathogenic
221997 rs1057515423 GRCh37: 9:139401304-139401304
GRCh38: 9:136506852-136506852
10 DSP NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) SNV Pathogenic
374137 rs1057518920 GRCh37: 6:7575619-7575619
GRCh38: 6:7575386-7575386
11 overlap with 4 genes GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490) CN LOSS Pathogenic
590960 GRCh37: 15:66817545-67418205
GRCh38:
12 SMAD6 NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) SNV Pathogenic
471759 rs1246889300 GRCh37: 15:66995638-66995638
GRCh38: 15:66703300-66703300
13 NOTCH1 NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) SNV Pathogenic
264528 rs61755997 GRCh37: 9:139410051-139410051
GRCh38: 9:136515599-136515599
14 SOS1 NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) SNV Pathogenic
40682 rs397517154 GRCh37: 2:39249914-39249914
GRCh38: 2:39022773-39022773
15 ROBO4 NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) SNV Likely Pathogenic
560394 rs201393279 GRCh37: 11:124767038-124767038
GRCh38: 11:124897142-124897142
16 ROBO4 NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr) SNV Likely Pathogenic
560395 rs138370967 GRCh37: 11:124766945-124766945
GRCh38: 11:124897049-124897049
17 ROBO4 NM_019055.6(ROBO4):c.695C>T (p.Thr232Met) SNV Likely Pathogenic
560396 rs150700978 GRCh37: 11:124765793-124765793
GRCh38: 11:124895897-124895897
18 ROBO4 NM_019055.6(ROBO4):c.1233T>A (p.His411Gln) SNV Likely Pathogenic
560397 rs1565326476 GRCh37: 11:124764182-124764182
GRCh38: 11:124894286-124894286
19 ROBO4 NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter) SNV Likely Pathogenic
560398 rs201492213 GRCh37: 11:124761441-124761441
GRCh38: 11:124891545-124891545
20 ROBO4 NM_019055.6(ROBO4):c.740T>C (p.Val247Ala) SNV Likely Pathogenic
560399 rs779392207 GRCh37: 11:124765748-124765748
GRCh38: 11:124895852-124895852
21 ROBO4 NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser) SNV Likely Pathogenic
560400 rs755747435 GRCh37: 11:124765550-124765550
GRCh38: 11:124895654-124895654
22 ROBO4 NM_019055.6(ROBO4):c.1864G>C (p.Asp622His) SNV Likely Pathogenic
560401 rs138111911 GRCh37: 11:124761279-124761279
GRCh38: 11:124891383-124891383
23 ROBO4 NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu) INDEL Likely Pathogenic
560402 rs1565322176 GRCh37: 11:124757062-124757063
GRCh38: 11:124887166-124887167
24 ROBO4 NM_019055.6(ROBO4):c.2056+1G>T SNV Likely Pathogenic
560404 rs764038221 GRCh37: 11:124757628-124757628
GRCh38: 11:124887732-124887732
25 ROBO4 NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs) DEL Likely Pathogenic
560405 rs755569942 GRCh37: 11:124761632-124761645
GRCh38: 11:124891736-124891749
26 NOTCH1 NM_017617.5(NOTCH1):c.4758_4759insCA (p.Asn1587fs) INSERT Likely Pathogenic
973252 rs1843055667 GRCh37: 9:139399384-139399385
GRCh38: 9:136504932-136504933
27 NOTCH1 NM_017617.5(NOTCH1):c.389del (p.Pro130fs) DEL Likely Pathogenic
977501 rs1843413593 GRCh37: 9:139418183-139418183
GRCh38: 9:136523731-136523731
28 SMAD6 NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu) SNV Likely Pathogenic
590965 rs900988907 GRCh37: 15:67073386-67073386
GRCh38: 15:66781048-66781048
29 NOTCH1 NM_017617.5(NOTCH1):c.3171+1_5935-1del DEL Likely Pathogenic
1527975 GRCh37: 9:139393712-139403321
GRCh38: 9:136499260-136508869
30 MT-ATP6 NC_012920.1:m.8950G>A SNV Likely Pathogenic
590268 rs1556423574 GRCh37: MT:8950-8950
GRCh38: MT:8950-8950
31 NOTCH1 NM_017617.5(NOTCH1):c.2380del (p.Glu794fs) DEL Likely Pathogenic
216971 rs863224901 GRCh37: 9:139407560-139407560
GRCh38: 9:136513108-136513108
32 DSG1 NM_001942.4(DSG1):c.604G>T (p.Glu202Ter) SNV Likely Pathogenic
373942 rs1057518788 GRCh37: 18:28911750-28911750
GRCh38: 18:31331787-31331787
33 TAB2 NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) SNV Likely Pathogenic
373443 rs1057518422 GRCh37: 6:149700090-149700090
GRCh38: 6:149378954-149378954
34 SMAD6 NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr) SNV Uncertain Significance
436796 rs80232004 GRCh37: 15:66995958-66995958
GRCh38: 15:66703620-66703620
35 PDIA2 NM_006849.4(PDIA2):c.383G>A (p.Arg128His) SNV Uncertain Significance
983420 rs373590123 GRCh37: 16:334570-334570
GRCh38: 16:284570-284570
36 NOTCH1 NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) SNV Uncertain Significance
222757 rs745901158 GRCh37: 9:139399129-139399129
GRCh38: 9:136504677-136504677
37 NOTCH1 NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr) SNV Uncertain Significance
155826 rs587782970 GRCh37: 9:139409148-139409148
GRCh38: 9:136514696-136514696
38 GATA5 NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys) SNV Uncertain Significance
180368 rs145205240 GRCh37: 20:61039927-61039927
GRCh38: 20:62464871-62464871
39 NOTCH1 NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn) SNV Uncertain Significance
523607 rs757988142 GRCh37: 9:139410520-139410520
GRCh38: 9:136516068-136516068
40 NOTCH1 NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met) SNV Uncertain Significance
544172 rs537766290 GRCh37: 9:139417337-139417337
GRCh38: 9:136522885-136522885
41 NOTCH1 NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His) SNV Uncertain Significance
544174 rs775991013 GRCh37: 9:139413048-139413048
GRCh38: 9:136518596-136518596
42 NOTCH1 NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys) SNV Uncertain Significance
544175 rs763988265 GRCh37: 9:139410001-139410001
GRCh38: 9:136515549-136515549
43 NOTCH1 NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro) SNV Uncertain Significance
544187 rs150343794 GRCh37: 9:139400299-139400299
GRCh38: 9:136505847-136505847
44 NOTCH1 NM_017617.5(NOTCH1):c.2207+5G>A SNV Uncertain Significance
544190 rs1214619547 GRCh37: 9:139408957-139408957
GRCh38: 9:136514505-136514505
45 NOTCH1 NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg) SNV Uncertain Significance
546117 rs531420022 GRCh37: 9:139402747-139402747
GRCh38: 9:136508295-136508295
46 NOTCH1 NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp) SNV Uncertain Significance
477942 rs1356199208 GRCh37: 9:139396824-139396824
GRCh38: 9:136502372-136502372
47 NOTCH1 NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) SNV Uncertain Significance
453137 rs1020747496 GRCh37: 9:139391296-139391296
GRCh38: 9:136496844-136496844
48 NOTCH1 NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) SNV Uncertain Significance
452700 rs777684045 GRCh37: 9:139402576-139402576
GRCh38: 9:136508124-136508124
49 NOTCH1 NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu) SNV Uncertain Significance
451861 rs1037236860 GRCh37: 9:139412639-139412639
GRCh38: 9:136518187-136518187
50 NOTCH1 NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) SNV Uncertain Significance
451661 rs774374213 GRCh37: 9:139399777-139399777
GRCh38: 9:136505325-136505325

Expression for Aortic Valve Disease 1

Search GEO for disease gene expression data for Aortic Valve Disease 1.

Pathways for Aortic Valve Disease 1

Pathways related to Aortic Valve Disease 1 according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 ACTA2 DSP EFEMP2 ELN FBN1 MYH11
2 12.81 TAB2 SOS1 SMAD6 NOTCH1 MYH11 JAG1
3
Show member pathways
12.62 TAB2 NKX2-5 GATA5 DSP ACTA2
4
Show member pathways
12.6 NOTCH1 JAG1 HEY2 HEY1 ACTA2
5
Show member pathways
12.2 SOS1 SMAD6 NOTCH1 HEY2 HEY1
6 12.04 TAB2 NOTCH1 NKX2-5 JAG1
7 11.96 DSP JAG1 NOTCH1 SOS1
8
Show member pathways
11.78 NOTCH1 JAG1 HEY2 HEY1
9 11.74 NOTCH1 JAG1 HEY1
10
Show member pathways
11.64 FBN1 ELN EFEMP2
11
Show member pathways
11.47 SMAD6 HEY2 HEY1
12 11.43 NOTCH1 JAG1 HEY1
13
Show member pathways
11.43 HEY1 HEY2 JAG1 NOTCH1
14 11.26 NOTCH1 HEY2 HEY1
16 10.93 NOTCH1 JAG1 HEY1
17 10.93 NOTCH1 NKX2-5 HEY2 HEY1
18 10.79 NOTCH1 JAG1
19 10.75 NOTCH1 JAG1

GO Terms for Aortic Valve Disease 1

Cellular components related to Aortic Valve Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 elastic fiber GO:0071953 8.92 ELN EFEMP2

Biological processes related to Aortic Valve Disease 1 according to GeneCards Suite gene sharing:

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.35 NOTCH1 NKX2-5 HEY2 HEY1 GATA5 ACTA2
2 Notch signaling pathway GO:0007219 10.22 NOTCH1 JAG1 HEY2 HEY1
3 keratinocyte differentiation GO:0030216 10.15 NOTCH1 JAG1 DSP
4 heart development GO:0007507 10.11 TAB2 NOTCH1 NKX2-5 HEY2 GATA5 FBN1
5 negative regulation of neuron differentiation GO:0045665 10.07 NOTCH1 JAG1 HEY1
6 regulation of neurogenesis GO:0050767 10.03 NOTCH1 HEY2 HEY1
7 cardiac muscle cell proliferation GO:0060038 10.03 HEY2 NKX2-5 NOTCH1
8 outflow tract morphogenesis GO:0003151 10.02 NOTCH1 NKX2-5 HEY2 ELN
9 cardiac conduction system development GO:0003161 10.01 NKX2-5 HEY2 HEY1
10 ventricular septum morphogenesis GO:0060412 10.01 HEY1 HEY2 NKX2-5 NOTCH1
11 heart trabecula formation GO:0060347 10 NKX2-5 HEY2 HEY1
12 ventricular trabecula myocardium morphogenesis GO:0003222 9.99 HEY2 NKX2-5 NOTCH1
13 vascular associated smooth muscle cell development GO:0097084 9.98 HEY2 EFEMP2
14 cardiac left ventricle morphogenesis GO:0003214 9.98 NOTCH1 HEY2
15 neuroendocrine cell differentiation GO:0061101 9.97 NOTCH1 JAG1
16 dorsal aorta morphogenesis GO:0035912 9.97 HEY1 HEY2
17 cardiac epithelial to mesenchymal transition GO:0060317 9.97 HEY1 HEY2 NOTCH1
18 ventricular cardiac muscle cell development GO:0055015 9.96 HEY2 NKX2-5
19 heart trabecula morphogenesis GO:0061384 9.96 SOS1 NOTCH1
20 pericardium morphogenesis GO:0003344 9.95 SOS1 NOTCH1
21 atrioventricular node development GO:0003162 9.95 NKX2-5 NOTCH1
22 mesenchymal cell development GO:0014031 9.94 HEY2 NOTCH1
23 pulmonary artery morphogenesis GO:0061156 9.94 HEY2 JAG1
24 cardiac atrium morphogenesis GO:0003209 9.93 SOS1 NOTCH1
25 inhibition of neuroepithelial cell differentiation GO:0002085 9.92 NOTCH1 JAG1
26 cardiac septum morphogenesis GO:0060411 9.92 NOTCH1 JAG1 HEY2 HEY1
27 glomerular mesangial cell development GO:0072144 9.91 ACTA2 NOTCH1
28 regulation of vasculogenesis GO:2001212 9.91 HEY2 HEY1
29 negative regulation of biomineral tissue development GO:0070168 9.91 NOTCH1 HEY2 HEY1
30 negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation GO:2000820 9.9 HEY2 HEY1
31 distal tubule development GO:0072017 9.89 NOTCH1 JAG1
32 positive regulation of cardiac epithelial to mesenchymal transition GO:0062043 9.88 NOTCH1 JAG1
33 cardiac vascular smooth muscle cell development GO:0060948 9.88 NOTCH1 HEY2
34 Notch signaling involved in heart development GO:0061314 9.86 NOTCH1 JAG1 HEY2 HEY1
35 umbilical cord morphogenesis GO:0036304 9.85 HEY2 HEY1
36 arterial endothelial cell differentiation GO:0060842 9.85 NOTCH1 HEY2 HEY1
37 regulation of inner ear auditory receptor cell differentiation GO:0045607 9.74 NOTCH1 HEY2
38 cardiac ventricle morphogenesis GO:0003208 9.7 HEY1 HEY2 NKX2-5 NOTCH1
39 pulmonary valve morphogenesis GO:0003184 9.65 SMAD6 NOTCH1 JAG1 HEY2 HEY1
40 aortic valve morphogenesis GO:0003180 9.53 SMAD6 NOTCH1 NKX2-5 JAG1 HEY2 HEY1

Molecular functions related to Aortic Valve Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix constituent conferring elasticity GO:0030023 8.92 FBN1 ELN

Sources for Aortic Valve Disease 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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