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AOVD1
MCID: ART115
MIFTS: 72

Aortic Valve Disease 1 (AOVD1)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Aortic Valve Disease 1

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MalaCards integrated aliases for Aortic Valve Disease 1:

Name: Aortic Valve Disease 1 57 12 72 29 6 15 70
Aortic Valve Disease 57 12 72 36 13 54 44 15 17
Bicuspid Aortic Valve 57 73 72 29 54 6
Abnormality of the Aortic Valve 29 6
Familial Bicuspid Aortic Valve 12 58
Bicuspid Aortic Valve Disease 12 15
Aortic Valve Calcification 17 70
Aovd1 57 72
Bav 57 72
Aortic Valve, Calcification of 57
Calcification of Aortic Valve 72
Aortic Valve Disease, Type 1 39
Aortic Valve Disease; Aovd 57
Bicuspid Aortic Valve; Bav 57
Aortic Stenosis, Calcific 57
Calcific Aortic Stenosis 72
Aortic Valve, Bicuspid 57
Aortic Valve Disease 2 70
Aortic Valve Disorder 70
Familial Bav 58
Aovd 57

Characteristics:

Orphanet epidemiological data:

58
familial bicuspid aortic valve
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
aortic valve disease 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Cardiovascular diseases Blood diseases Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080332 DOID:0080333 DOID:62
OMIM® 57 109730
OMIM Phenotypic Series 57 PS109730
KEGG 36 H00554
ICD9CM 34 424.1
NCIt 50 C78650
SNOMED-CT 67 8722008
ICD10 32 I35.9 I39.1
ICD10 via Orphanet 33 Q23.1
Orphanet 58 ORPHA402075
UMLS 70 C0428791 C1260873 C3542024 more
Sources

Summaries for Aortic Valve Disease 1

About this section
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 05-Apr-2021)

MalaCards based summary : Aortic Valve Disease 1, also known as aortic valve disease, is related to aortic valve insufficiency and aortic valve disease 2. An important gene associated with Aortic Valve Disease 1 is NOTCH1 (Notch Receptor 1), and among its related pathways/superpathways are Notch signaling pathway and TGF-beta signaling pathway. The drugs Aspirin and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and bone, and related phenotypes are bicuspid aortic valve and coarctation of aorta

KEGG : 36 Aortic valve disease (AOVD), also known as bicuspid aortic valve, is the most common congenital heart defect with strong male predominance. It may arise in isolation or in association with other congenital heart lesions. The bicuspid aortic valve is typically made of two unequal-sized leaflets, whereas the normal valve is known to have three leaflets.

UniProtKB/Swiss-Prot : 72 Aortic valve disease 1: 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.

Wikipedia : 73 Bicuspid aortic valve (BAV) is an inherited form of heart disease in which two of the leaflets of the... more...

Sources

Related Diseases for Aortic Valve Disease 1

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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 382)
# Related Disease Score Top Affiliating Genes
1 aortic valve insufficiency 32.9 GATA5 FBN1 ELN ACTA2
2 aortic valve disease 2 32.4 SMAD6 NKX2-5 MIR29B1 FBN1 ELN
3 heart valve disease 31.9 NKX2-5 MIR29B1 FBN1 ELN
4 patent ductus arteriosus 1 31.8 TBX20 SOS1 NOTCH1 NKX2-5 JAG1 FBN1
5 aneurysm 31.8 ROBO4 NOTCH1 FBN1 ELN ACTA2
6 aortic aneurysm 31.8 ROBO4 NOTCH1 MIR29B1 FBN1 ELN ACTA2
7 aortic dissection 31.7 NOTCH1 GATA5 FBN1 ELN COL5A1 ACTA2
8 lipoprotein quantitative trait locus 31.6 TBX20 NOTCH1 NKX2-5 MIR29B1 H19 FBN1
9 left ventricular noncompaction 31.6 TBX20 NOTCH1 NKX2-5 JAG1 HEY2 DSP
10 aortic disease 31.6 NOTCH1 MIR29B1 GATA5 FBN1 ELN ACTA2
11 loeys-dietz syndrome 31.6 SMAD6 NOTCH1 FBN1 ELN COL5A1 ACTA2
12 hypoplastic left heart syndrome 31.5 TBX20 SMAD6 ROBO4 NOTCH1 NKX2-5 JAG1
13 heart disease 31.4 TBX20 TAB2 SOS1 NOTCH1 NKX2-5 JAG1
14 hemopericardium 31.4 FBN1 ELN
15 marfan syndrome 31.3 NOTCH1 FBN1 ELN COL5A1 ACTA2
16 heart septal defect 31.3 TBX20 SOS1 NOTCH1 NKX2-5 JAG1 HEY2
17 ventricular septal defect 31.3 NOTCH1 NKX2-5 JAG1 GATA5
18 connective tissue disease 31.2 NOTCH1 MIR29B1 FBN1 ELN COL5A1 ACTA2
19 pulmonary valve stenosis 31.0 TBX20 SOS1 NKX2-5 JAG1 FBN1
20 aortic aneurysm, familial thoracic 1 31.0 NOTCH1 GATA5 FBN1 ELN COL5A1 ACTA2
21 double outlet right ventricle 31.0 TBX20 NOTCH1 NKX2-5 GATA5
22 aortic aneurysm, familial abdominal, 1 31.0 MIR29B1 H19 FBN1 ELN ACTA2
23 tricuspid valve disease 31.0 TBX20 NKX2-5 FBN1
24 arterial tortuosity syndrome 30.9 FBN1 ELN ACTA2
25 tricuspid valve stenosis 30.9 NKX2-5 HEY2
26 atrial heart septal defect 30.8 TBX20 SOS1 NOTCH1 NKX2-5 JAG1 HEY2
27 tetralogy of fallot 30.8 TBX20 SOS1 NOTCH1 NKX2-5 JAG1 HEY2
28 patent foramen ovale 30.8 TBX20 TAB2 SOS1 NKX2-5 GATA5 FBN1
29 dilated cardiomyopathy 30.8 TBX20 SOS1 NKX2-5 MT-ATP6 GATA5 FBN1
30 orthostatic intolerance 30.8 MIR29B1 FBN1 ELN COL5A1 ACTA2
31 pulmonary valve disease 30.7 SOS1 NKX2-5 FBN1
32 adams-oliver syndrome 30.6 NOTCH1 JAG1 HEY2
33 heritable thoracic aortic disease 30.4 FBN1 ACTA2
34 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 11.6
35 multicentric osteolysis, nodulosis, and arthropathy 11.3
36 periventricular nodular heterotopia 1 11.3
37 loeys-dietz syndrome 4 11.3
38 congenital heart defects, multiple types, 2 11.3
39 kleefstra syndrome 11.3
40 scheie syndrome 11.1
41 aortic valve disease 3 10.9
42 aneurysm of sinus of valsalva 10.7
43 rasopathy 10.6 TBX20 SOS1 NOTCH1 NKX2-5 FBN1 ELN
44 atrioventricular septal defect 10.6 TBX20 NKX2-5 HEY2 GATA5 ELN
45 familial thoracic aortic aneurysm and aortic dissection 10.6 NOTCH1 FBN1 ELN COL5A1 ACTA2
46 ehlers-danlos syndrome, vascular type 10.6 FBN1 ELN COL5A1 ACTA2
47 wolff-parkinson-white syndrome 10.6 TBX20 NKX2-5 JAG1 COL5A1
48 alagille syndrome 1 10.6 NOTCH1 NKX2-5 JAG1 HEY2
49 tricuspid atresia 10.6 TBX20 NKX2-5 HEY2
50 cardiomyopathy, infantile histiocytoid 10.6 MT-ATP8 MT-ATP6 GATA5

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 Mental Retardation 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
Sources

Symptoms & Phenotypes for Aortic Valve Disease 1

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Human phenotypes related to Aortic Valve Disease 1:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bicuspid aortic valve 58 31 obligate (100%) Obligate (100%) HP:0001647
2 coarctation of aorta 58 31 hallmark (90%) Very frequent (99-80%) HP:0001680
3 aortic valve calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004380
4 aortic valve stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001650
5 aortic regurgitation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001659
6 heart murmur 58 31 hallmark (90%) Very frequent (99-80%) HP:0030148
7 thoracic aorta calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004962
8 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
9 aortic arch aneurysm 31 frequent (33%) HP:0005113
10 hypoplastic left heart 58 31 very rare (1%) Very rare (<4-1%) HP:0004383
11 ascending aortic dissection 58 31 very rare (1%) Very rare (<4-1%) HP:0004933
12 abnormal left ventricular outflow tract morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0011103
13 ventricular septal defect 31 very rare (1%) HP:0001629
14 mitral stenosis 31 very rare (1%) HP:0001718
15 mitral atresia 31 very rare (1%) HP:0011560
16 double outlet right ventricle 31 very rare (1%) HP:0001719
17 dilatation of the aortic arch 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

MGI Mouse Phenotypes related to Aortic Valve Disease 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.17 ACTA2 COL5A1 DSP FBN1 GATA5 HEY2
2 craniofacial MP:0005382 9.86 DSP FBN1 HEY2 JAG1 NKX2-5 NOTCH1
3 embryo MP:0005380 9.85 COL5A1 DSP FBN1 HEY2 JAG1 NKX2-5
4 integument MP:0010771 9.7 COL5A1 DSG1 DSP FBN1 GATA5 JAG1
5 muscle MP:0005369 9.4 ACTA2 DSP FBN1 GATA5 HEY2 JAG1
Sources

Drugs & Therapeutics for Aortic Valve Disease 1

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

(show top 50) (show all 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
2
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
3
Ticagrelor Approved Phase 4 274693-27-5 9871419
4
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
5
Losartan Approved Phase 4 114798-26-4 3961
6
Acenocoumarol Approved, Investigational Phase 4 152-72-7 9052 54676537
7
Phenprocoumon Approved, Investigational Phase 4 435-97-2 9908 54680692
8
Chlorthalidone Approved Phase 4 77-36-1 2732
9
Amlodipine Approved Phase 4 88150-42-9 2162
10
Vitamin K1 Approved, Investigational Phase 4 84-80-0 5284607
11
Warfarin Approved Phase 4 81-81-2 54678486 6691
12
Apixaban Approved Phase 4 503612-47-3 10182969
13
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
14
Dabigatran Investigational Phase 4 211914-51-1
15 Menaquinone Investigational Phase 4 1182-68-9
16 Neurotransmitter Agents Phase 4
17 Analgesics, Non-Narcotic Phase 4
18 Analgesics Phase 4
19 Fibrinolytic Agents Phase 4
20 Antirheumatic Agents Phase 4
21 Cyclooxygenase Inhibitors Phase 4
22 Purinergic P2Y Receptor Antagonists Phase 4
23 Anti-Inflammatory Agents Phase 4
24 Anti-Inflammatory Agents, Non-Steroidal Phase 4
25 Antipyretics Phase 4
26 Platelet Aggregation Inhibitors Phase 4
27 Anti-Arrhythmia Agents Phase 4
28 Giapreza Phase 4
29 Angiotensin Receptor Antagonists Phase 4
30 Angiotensinogen Phase 4
31 Antihypertensive Agents Phase 4
32 Angiotensin II Type 1 Receptor Blockers Phase 4
33 Calcium, Dietary Phase 4
34 Protamines Phase 4
35 Hormones Phase 4
36 Vasodilator Agents Phase 4
37 Sodium Chloride Symporter Inhibitors Phase 4
38 diuretics Phase 4
39 calcium channel blockers Phase 4
40 Nutrients Phase 4
41 Micronutrients Phase 4
42 Trace Elements Phase 4
43 Vitamin K Phase 4
44 Vitamins Phase 4
45 Antifibrinolytic Agents Phase 4
46 Coagulants Phase 4
47 naphthoquinone Phase 4
48 Hemostatics Phase 4
49 Dipeptidyl-Peptidase IV Inhibitors Phase 4
50 Anticoagulants Phase 4

Interventional clinical trials:

(show top 50) (show all 147)
# 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 Antiplatelet Therapy for Patients Undergoing Transcatheter Aortic Valve Implantation Completed NCT02247128 Phase 4 Aspirin + clopidogrel;Aspirin monotherapy;OAC + clopicogrel;OAC monotherapy
3 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
4 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
5 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
6 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
7 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
8 Randomized, Evaluation of Long-term Anticoagulation With Oral Factor Xa Inhibitor Versus Vitamin K Antagonist After Mechanical Aortic Valve Replacement Not yet recruiting NCT04258488 Phase 4 Apixaban Oral Tablet;Vitamin K antagonist(warfarin)
9 Vitamin K Containing Nutritional Supplement for Activation of Matrix-GIa-proteins (MGP) and Inhibition of Aortic Valve Calcification Process Completed NCT00785109 Phase 3
10 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
11 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
12 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 Recruiting NCT04142658 Phase 3 Apixaban 5 MG;Apixaban 2.5 MG;Warfarin
13 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
14 Beta Blockers and Angiotensin Receptor Blockers in Bicuspid Aortic Valve Disease Aortopathy (BAV Study) Terminated NCT01202721 Phase 3 Atenolol;Telmisartan
15 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
16 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)
17 SALTIRE II: Bisphosphonates and RANKL Inhibition in Aortic Stenosis Completed NCT02132026 Phase 2 Denosumab;Alendronic Acid;Denosumab Placebo;Alendronic Acid Placebo
18 Decalcification of the Aortic Valve by Vitamin K2 (Menaquinone-7) Recruiting NCT03305536 Phase 2
19 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 Recruiting NCT04055883 Phase 2 DA-1229
20 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
21 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
22 A Registry to Evaluate the Direct Flow Medical Transcatheter Aortic Valve System for the Treatment of Patients With Severe Aortic Stenosis Unknown status NCT01845285
23 Proof of Concept of Model Based Cardiovascular Prediction Unknown status NCT02591940
24 Prevalence and Significance of Mutations in Genes Encoding NaPi-co-transporters in the Development of CAVD Unknown status NCT02516800
25 BIVOLUTX: Bicuspid Aortic Stenosis With Evolut Platform International Experience. Unknown status NCT03495050
26 Whole Exome Sequencing in Bicuspid Aortic Valve Patients Unknown status NCT02899624
27 Feasibility of Continuous Noninvasive Finger Arterial Blood Pressure Measurement for Detection and Staging of Aortic Stenosis Unknown status NCT03088787
28 Smart - Systems Medicine of Heart Failure Unknown status NCT03172338
29 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
30 Registry Study of Aortic Valve Diseases in Chinese Elderly Unknown status NCT02623907
31 Long-Term Follow-up After the Autograft Aortic Valve Procedure (Ross Operation)-the German-Dutch- Ross Registry Unknown status NCT00708409
32 Catheter-Based Transapical Implantation of the Ventor Embracerâ„¢ Heart Valve Prosthesis in Patients With Severe Aortic Valve Disease Unknown status NCT00677638
33 Risk Markers of Coronary Artery Disease Associated With Calcific Aortic Valve Disease Unknown status NCT00375336
34 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
35 Comparison of Aortic Root Dimension Changes During Cardiac Cycle Between the Patients With and Without Aortic Valve Calcification Using ECG-gated 64-slice and Dual-source 256-slice Computed Tomography Scanners: Results of a Multicenter Study Completed NCT01755806
36 Relationships Between Lipoprotein(a) Levels and Aortic Valve Calcification in Patients With Heterozygous Familial Hypercholesterolemia Completed NCT02976818
37 The Medtronic CoreValveâ„¢ Evolut Râ„¢ FORWARD Study Completed NCT02592369
38 Edwards SAPIEN 3 Aortic Bioprosthesis Multi-Region Outcome Registry Completed NCT02698956
39 Relationship Between Indexed Aortic Area and Aortic Diameter in Bicuspid Aortic Valve Aortopathy: A Retrospective Cohort Study Completed NCT04756778
40 HAART 200 Aortic Valve Annuloplasty During Bicuspid Aortic Valve Reconstruction Trial Completed NCT02071849
41 Bicuspid Valve Aortopathy: Feasibility of a Comparative Effectiveness Study Completed NCT01920815
42 Investigation of Patients With BAV Requiring Valve and/or Aortic Repair. Correlation of Surgical and ECO Distinctive Features With Histologic and Genetic Findings in Phenotypically Homogeneous Outlier Cases (GISSI VAR) Completed NCT02283970
43 Effective Management of Calcific Aortic Stenosis in the Elderly Completed NCT03343314
44 Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome Completed NCT01760668
45 Abnormal 3-dimensional MRI Flow Patterns and Plasma Matrix Metalloproteinase Levels Predict Dilatation of Ascending Aorta in Adolescent Patients With Bicuspid Aortic Valve Completed NCT00412386
46 Evaluation of Clinical Outcomes of Transcatheter Aortic Valve Replacement for Patients With Bicuspid Aortic Valve Stenosis Completed NCT02394184
47 2D Strain of Right Ventricle in Peroperative Cardiac Surgery : Evaluation of Early Signs of RV Dysfunction Completed NCT03298932
48 Transcatheter Aortic Valve Intervention-Live Transmission (VERITAS)Study Completed NCT01353287
49 CO2 Insufflation vs Lund De-airing Technique For Open Left Heart Surgery - Safety and Efficacy Completed NCT00934596 carbon-dioxide insufflation
50 Clinical Trial of the Edwards Aortic Bioprosthesis, Model 11000 Completed NCT01651052

Search NIH Clinical Center for Aortic Valve Disease 1

Cochrane evidence based reviews: aortic valve disease

Sources

Genetic Tests for Aortic Valve Disease 1

About this section

Genetic tests related to Aortic Valve Disease 1:

# Genetic test Affiliating Genes
1 Aortic Valve Disease 1 29 NOTCH1
2 Bicuspid Aortic Valve 29
3 Abnormality of the Aortic Valve 29
Sources

Anatomical Context for Aortic Valve Disease 1

About this section

MalaCards organs/tissues related to Aortic Valve Disease 1:

40
Heart, Endothelial, Bone, Kidney, Lung, Myeloid, Smooth Muscle
Sources

Publications for Aortic Valve Disease 1

About this section

Articles related to Aortic Valve Disease 1:

(show top 50) (show all 2964)
# Title Authors PMID Year
1
Mutations in NOTCH1 cause aortic valve disease. 54 61 57 6
16025100 2005
2
Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 54 6 57
16729972 2006
3
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. 57 6
18593716 2008
4
Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. 57 54 61
17662764 2007
5
Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. 61 57
17203300 2007
6
Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families. 61 57
737099 1978
7
Deregulation of Notch1 pathway and circulating endothelial progenitor cell (EPC) number in patients with bicuspid aortic valve with and without ascending aorta aneurysm. 57
30218064 2018
8
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 6
27760138 2016
9
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families. 6
26820064 2016
10
Genetic associations with valvular calcification and aortic stenosis. 57
23388002 2013
11
Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. 57
17676603 2007
12
Autosomal dominant inheritance of left ventricular outflow tract obstruction. 57
15712195 2005
13
Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. 57
15690347 2005
14
Bicuspid aortic valve is heritable. 57
15234422 2004
15
Ascending aortic aneurysm and dissection in young adults with bicuspid aortic valve: implications for echocardiographic surveillance. 57
9631276 1998
16
Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance. 57
8723060 1996
17
Congenitally bicuspid aortic valve in multiple family members. 57
8109558 1994
18
Association of aortic dilation with regurgitant, stenotic and functionally normal bicuspid aortic valves. 57
1732353 1992
19
Aortic aneurysm in patients with functionally normal or minimally stenotic bicuspid aortic valve. 57
2006634 1991
20
Dissection of the aorta associated with congenital malformation of the aortic valve. 57
1993792 1991
21
Echocardiography reveals a high incidence of bicuspid aortic valve in Turner syndrome. 57
6848727 1983
22
Association of congenital bicuspid aortic valve and erdheim's cystic medial necrosis. 57
4112361 1972
23
The congenitally bicuspid aortic valve. A study of 85 autopsy cases. 57
5427836 1970
24
[Gene polymorphisms leading to calcified and stenotic aortic valves]. 54 61
17072776 2006
25
Molecular genetics of aortic valve disease. 54 61
16601454 2006
26
Vascular matrix remodeling in patients with bicuspid aortic valve malformations: implications for aortic dilatation. 54 61
14502156 2003
27
Survival after surgical aortic valve replacement in patients with bicuspid aortic valve disease. 61
33795380 2021
28
Bicuspid Aortic Valve Repair: Causes of Valve Failure and Long-Term Outcomes. 61
32599047 2021
29
ValveTech: A Novel Robotic Approach for Minimally Invasive Aortic Valve Replacement. 61
32931426 2021
30
Another choice for aortic valve disease in pediatric patients. 61
33705782 2021
31
Fate of mild-to-moderate bicuspid aortic valve disease untreated during ascending aorta replacement. 61
33651397 2021
32
Optical coherence tomography and multiphoton microscopy offer new options for the quantification of fibrotic aortic valve disease in ApoE-/- mice. 61
33712671 2021
33
Fluid-structure coupled biotransport processes in aortic valve disease. 61
33515904 2021
34
Left Ventricular Longitudinal Strain in Characterization and Outcome Assessment of Mixed Aortic Valve Disease Phenotypes. 61
33744141 2021
35
Aortic Valve Disease and Associated Complex CAD: The Interventional Approach. 61
33804391 2021
36
Aortic Valve Neocuspidalization May Be a Viable Alternative to Ross Operation in Pediatric Patients. 61
33394106 2021
37
Longitudinal Changes in Exercise Capacity in Patients Who Underwent Ross Procedure and Mechanical Aortic Valve Replacement: Does the Type of Surgery Matter? 61
33682063 2021
38
Drugs for prevention and treatment of aortic stenosis: how close are we? 61
33677100 2021
39
Metabolomics in Severe Aortic Stenosis Reveals Intermediates of Nitric Oxide Synthesis as Most Distinctive Markers. 61
33808189 2021
40
Aortic Regurgitation Is Associated With Ascending Aortic Remodeling in the Nondilated Aorta. 61
33441026 2021
41
Long-Term Outcomes of Patients Undergoing the Ross Procedure. 61
33736823 2021
42
Community prevalence, mechanisms and outcome of mitral or tricuspid regurgitation. 61
33674352 2021
43
'Valve for Life': tackling the deficit in transcatheter treatment of heart valve disease in the UK. 61
33767000 2021
44
Comparing quality of life and postoperative pain after limited access and conventional aortic valve replacement: Design and rationale of the LImited access aortic valve replacement (LIAR) trial. 61
33506139 2021
45
An Exploratory Look at Bicuspid Aortic Valve (Bav) Aortopathy: Focus on Molecular and Cellular Mechanisms. 61
31097209 2021
46
Impact of pre-existing comorbidities on outcomes of patients undergoing surgical aortic valve replacement - rationale and design of the international IMPACT registry. 61
33766089 2021
47
The focal mechanical properties of normal and diseased porcine aortic valve tissue measured by a novel microindentation device. 61
33310684 2021
48
Tumor necrosis factor-α promotes and exacerbates calcification in heart valve myofibroblast populations. 61
33554387 2021
49
Frailty is highly prevalent in specific cardiovascular diseases and females, but significantly worsens prognosis in all affected patients: A systematic review. 61
33333322 2021
50
New calcification model for intact murine aortic valves. 61
33744308 2021
Sources

Variations for Aortic Valve Disease 1

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ClinVar genetic disease variations for Aortic Valve Disease 1:

6 (show top 50) (show all 109)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOS1 NM_005633.3(SOS1):c.1655G>C (p.Arg552Thr) SNV Pathogenic 40682 rs397517154 GRCh37: 2:39249914-39249914
GRCh38: 2:39022773-39022773
2 MT-ATP8 NC_012920.1:m.8420_8421insATA Insertion Pathogenic 626321 rs1569484208 GRCh37: MT:8418-8419
GRCh38: MT:8418-8419
3 MT-ATP6 NC_012920.1:m.8751_8752insAAA Insertion Pathogenic 590899 rs1569484234 GRCh37: MT:8750-8751
GRCh38: MT:8750-8751
4 NOTCH1 NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) SNV Pathogenic 12476 rs41309764 GRCh37: 9:139402690-139402690
GRCh38: 9:136508238-136508238
5 NOTCH1 NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs) Deletion Pathogenic 12477 rs41309766 GRCh37: 9:139399836-139399836
GRCh38: 9:136505384-136505384
6 NOTCH1 NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter) SNV Pathogenic 221997 rs1057515423 GRCh37: 9:139401304-139401304
GRCh38: 9:136506852-136506852
7 NOTCH1 NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter) SNV Pathogenic 221998 rs1057515422 GRCh37: 9:139407501-139407501
GRCh38: 9:136513049-136513049
8 NOTCH1 NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter) SNV Pathogenic 374271 rs1057518661 GRCh37: 9:139391843-139391843
GRCh38: 9:136497391-136497391
9 overlap with 4 genes GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490) copy number loss Pathogenic 590960 GRCh37: 15:66817545-67418205
GRCh38:
10 SMAD6 NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) SNV Pathogenic 471759 rs1246889300 GRCh37: 15:66995638-66995638
GRCh38: 15:66703300-66703300
11 SMAD6 NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu) SNV Pathogenic 590966 rs1567092020 GRCh37: 15:66996366-66996366
GRCh38: 15:66704028-66704028
12 NOTCH1 NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) SNV Pathogenic 264528 rs61755997 GRCh37: 9:139410051-139410051
GRCh38: 9:136515599-136515599
13 NOTCH1 NOTCH1, PRO1797HIS SNV Pathogenic 635566 GRCh37:
GRCh38:
14 DSP NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) SNV Pathogenic 374137 rs1057518920 GRCh37: 6:7575619-7575619
GRCh38: 6:7575386-7575386
15 NOTCH1 NM_017617.5(NOTCH1):c.389del (p.Pro130fs) Deletion Likely pathogenic 977501 GRCh37: 9:139418183-139418183
GRCh38: 9:136523731-136523731
16 ROBO4 NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs) Deletion Likely pathogenic 560405 rs755569942 GRCh37: 11:124761632-124761645
GRCh38: 11:124891736-124891749
17 ROBO4 NM_019055.6(ROBO4):c.2056+1G>T SNV Likely pathogenic 560404 rs764038221 GRCh37: 11:124757628-124757628
GRCh38: 11:124887732-124887732
18 SMAD6 NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu) SNV Likely pathogenic 590965 rs900988907 GRCh37: 15:67073386-67073386
GRCh38: 15:66781048-66781048
19 NOTCH1 NM_017617.5(NOTCH1):c.4758_4759insCA (p.Asn1587fs) Insertion Likely pathogenic 973252 GRCh37: 9:139399384-139399385
GRCh38: 9:136504932-136504933
20 ROBO4 NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu) Indel Likely pathogenic 560402 rs1565322176 GRCh37: 11:124757062-124757063
GRCh38: 11:124887166-124887167
21 ROBO4 NM_019055.6(ROBO4):c.1864G>C (p.Asp622His) SNV Likely pathogenic 560401 rs138111911 GRCh37: 11:124761279-124761279
GRCh38: 11:124891383-124891383
22 ROBO4 NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser) SNV Likely pathogenic 560400 rs755747435 GRCh37: 11:124765550-124765550
GRCh38: 11:124895654-124895654
23 ROBO4 NM_019055.6(ROBO4):c.740T>C (p.Val247Ala) SNV Likely pathogenic 560399 rs779392207 GRCh37: 11:124765748-124765748
GRCh38: 11:124895852-124895852
24 ROBO4 NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter) SNV Likely pathogenic 560398 rs201492213 GRCh37: 11:124761441-124761441
GRCh38: 11:124891545-124891545
25 ROBO4 NM_019055.6(ROBO4):c.1233T>A (p.His411Gln) SNV Likely pathogenic 560397 rs1565326476 GRCh37: 11:124764182-124764182
GRCh38: 11:124894286-124894286
26 ROBO4 NM_019055.6(ROBO4):c.695C>T (p.Thr232Met) SNV Likely pathogenic 560396 rs150700978 GRCh37: 11:124765793-124765793
GRCh38: 11:124895897-124895897
27 ROBO4 NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr) SNV Likely pathogenic 560395 rs138370967 GRCh37: 11:124766945-124766945
GRCh38: 11:124897049-124897049
28 ROBO4 NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) SNV Likely pathogenic 560394 rs201393279 GRCh37: 11:124767038-124767038
GRCh38: 11:124897142-124897142
29 DSG1 NM_001942.4(DSG1):c.604G>T (p.Glu202Ter) SNV Likely pathogenic 373942 rs1057518788 GRCh37: 18:28911750-28911750
GRCh38: 18:31331787-31331787
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) Deletion Likely pathogenic 216971 rs863224901 GRCh37: 9:139407560-139407560
GRCh38: 9:136513108-136513108
32 TAB2 NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) SNV Likely pathogenic 373443 rs1057518422 GRCh37: 6:149700090-149700090
GRCh38: 6:149378954-149378954
33 MYH11 NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met) SNV Uncertain significance 405474 rs552818350 GRCh37: 16:15826512-15826512
GRCh38: 16:15732655-15732655
34 NOTCH1 NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) SNV Uncertain significance 134918 rs559917218 GRCh37: 9:139405696-139405696
GRCh38: 9:136511244-136511244
35 COL5A1 NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe) SNV Uncertain significance 180298 rs150147262 GRCh37: 9:137593039-137593039
GRCh38: 9:134701193-134701193
36 GATA5 NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys) SNV Uncertain significance 180368 rs145205240 GRCh37: 20:61039927-61039927
GRCh38: 20:62464871-62464871
37 NOTCH1 NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) SNV Uncertain significance 520027 rs377294245 GRCh37: 9:139396893-139396893
GRCh38: 9:136502441-136502441
38 NOTCH1 NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) SNV Uncertain significance 409078 rs367825691 GRCh37: 9:139413921-139413921
GRCh38: 9:136519469-136519469
39 NOTCH1 NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) SNV Uncertain significance 264044 rs763187824 GRCh37: 9:139413985-139413985
GRCh38: 9:136519533-136519533
40 NOTCH1 NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) SNV Uncertain significance 264469 rs371068504 GRCh37: 9:139400110-139400110
GRCh38: 9:136505658-136505658
41 NOTCH1 NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) SNV Uncertain significance 520091 rs199777870 GRCh37: 9:139390878-139390878
GRCh38: 9:136496426-136496426
42 NOTCH1 NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) SNV Uncertain significance 625987 rs774808496 GRCh37: 9:139399158-139399158
GRCh38: 9:136504706-136504706
43 overlap with 16 genes GRCh37/hg19 1q42.13(chr1:228297613-228703236) copy number gain Uncertain significance 590949 GRCh37: 1:228224824-228784907
GRCh38:
44 overlap with 3 genes GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065) copy number gain Uncertain significance 590950 GRCh37: 7:34899235-35269625
GRCh38:
45 KLF12 GRCh37/hg19 13q22.1(chr13:74152544-74283131) copy number gain Uncertain significance 590951 GRCh37: 13:74133837-74298889
GRCh38:
46 overlap with 2 genes GRCh37/hg19 16p13.11-12.3(chr16:16633361-16688008) copy number gain Uncertain significance 590952 GRCh37: 16:16308351-16878729
GRCh38:
47 ZNF626 GRCh37/hg19 19p12(chr19:20834979-20987550) copy number gain Uncertain significance 590953 GRCh37: 19:20826692-21001965
GRCh38:
48 FBN3 GRCh37/hg19 19p13.2(chr19:8213468-8227432) copy number gain Uncertain significance 590954 GRCh37: 19:8206748-8235774
GRCh38:
49 overlap with 3 genes GRCh37/hg19 22q11.21(chr22:18844632-19008108) copy number loss Uncertain significance 590955 GRCh37: 22:18656495-19016663
GRCh38:
50 TBX20 NM_001077653.2(TBX20):c.117C>G (p.Ile39Met) SNV Uncertain significance 590956 rs1562569196 GRCh37: 7:35293115-35293115
GRCh38: 7:35253504-35253504
Sources

Expression for Aortic Valve Disease 1

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

Pathways for Aortic Valve Disease 1

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Pathways related to Aortic Valve Disease 1 according to KEGG:

36
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330
2 TGF-beta signaling pathway hsa04350

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

# Super pathways Score Top Affiliating Genes
1
Wnt / Hedgehog / Notch 4
11.72 TAB2 NOTCH1 NKX2-5 JAG1
2
Cardiac Progenitor Differentiation 1
10.86 TBX20 NOTCH1 NKX2-5
3
Heart Development 1
10.59 TBX20 NOTCH1 NKX2-5 HEY2
4
NOTCH1 regulation of human endothelial cell calcification 1
10.58 NOTCH1 JAG1
5
Amplification and Expansion of Oncogenic Pathways as Metastatic Traits 1
10.49 NOTCH1 JAG1
Sources

GO Terms for Aortic Valve Disease 1

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial proton-transporting ATP synthase complex GO:0005753 8.96 MT-ATP8 MT-ATP6
2 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 8.62 MT-ATP8 MT-ATP6

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

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.11 TBX20 NOTCH1 NKX2-5 HEY2 GATA5 ACTA2
2 positive regulation of gene expression GO:0010628 10.07 NOTCH1 MIR29B1 HEY2 GATA5 ACTA2
3 negative regulation of gene expression GO:0010629 9.99 NOTCH1 MIR29B1 HEY2 GATA5
4 heart development GO:0007507 9.88 TAB2 NOTCH1 NKX2-5 HEY2 FBN1
5 Notch signaling pathway GO:0007219 9.87 NOTCH1 JAG1 HEY2
6 cell fate commitment GO:0045165 9.83 NOTCH1 HEY2 GATA5
7 heart looping GO:0001947 9.82 TBX20 NOTCH1 NKX2-5
8 vasculogenesis GO:0001570 9.81 TBX20 NKX2-5 HEY2
9 keratinocyte differentiation GO:0030216 9.8 NOTCH1 JAG1 DSP
10 heart morphogenesis GO:0003007 9.79 SOS1 NKX2-5 COL5A1
11 positive regulation of cardiac muscle cell proliferation GO:0060045 9.75 TBX20 NOTCH1 HEY2
12 ventricular septum morphogenesis GO:0060412 9.71 NOTCH1 NKX2-5 HEY2
13 negative regulation of cardiac muscle hypertrophy GO:0010614 9.7 NOTCH1 GATA5
14 endocardial cushion morphogenesis GO:0003203 9.7 TBX20 NOTCH1
15 outflow tract septum morphogenesis GO:0003148 9.7 TBX20 SMAD6 NKX2-5
16 embryonic heart tube development GO:0035050 9.69 TBX20 NKX2-5
17 negative regulation of myotube differentiation GO:0010832 9.69 NOTCH1 NKX2-5
18 negative regulation of stem cell differentiation GO:2000737 9.68 NOTCH1 JAG1
19 cardiac epithelial to mesenchymal transition GO:0060317 9.68 NOTCH1 HEY2
20 ventricular trabecula myocardium morphogenesis GO:0003222 9.68 NOTCH1 HEY2
21 response to muramyl dipeptide GO:0032495 9.68 NOTCH1 JAG1
22 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.67 NOTCH1 HEY2
23 cardiac left ventricle morphogenesis GO:0003214 9.67 NOTCH1 HEY2
24 negative regulation of biomineral tissue development GO:0070168 9.66 NOTCH1 HEY2
25 ventricular cardiac muscle cell development GO:0055015 9.66 NKX2-5 HEY2
26 cardiac ventricle morphogenesis GO:0003208 9.65 NOTCH1 HEY2
27 heart trabecula morphogenesis GO:0061384 9.65 SOS1 NOTCH1
28 cardiac septum morphogenesis GO:0060411 9.63 NOTCH1 JAG1 HEY2
29 pulmonary artery morphogenesis GO:0061156 9.62 JAG1 HEY2
30 cardiac atrium morphogenesis GO:0003209 9.62 SOS1 NOTCH1
31 mesenchymal cell development GO:0014031 9.61 NOTCH1 HEY2
32 cardiac right ventricle morphogenesis GO:0003215 9.61 TBX20 JAG1 HEY2
33 negative regulation of SMAD protein complex assembly GO:0010991 9.6 TBX20 SMAD6
34 glomerular mesangial cell development GO:0072144 9.59 NOTCH1 ACTA2
35 arterial endothelial cell differentiation GO:0060842 9.58 NOTCH1 HEY2
36 atrial septum morphogenesis GO:0060413 9.58 TBX20 NKX2-5 HEY2
37 distal tubule development GO:0072017 9.57 NOTCH1 JAG1
38 cardiac vascular smooth muscle cell development GO:0060948 9.56 NOTCH1 HEY2
39 outflow tract morphogenesis GO:0003151 9.56 TBX20 NOTCH1 HEY2 ELN
40 regulation of inner ear auditory receptor cell differentiation GO:0045607 9.55 NOTCH1 HEY2
41 Notch signaling involved in heart development GO:0061314 9.54 NOTCH1 JAG1 HEY2
42 positive regulation of cardiac epithelial to mesenchymal transition GO:0062043 9.51 NOTCH1 JAG1
43 cardiac muscle tissue morphogenesis GO:0055008 9.5 TBX20 NOTCH1 NKX2-5
44 cardiac chamber formation GO:0003207 9.49 TBX20 NOTCH1
45 pericardium morphogenesis GO:0003344 9.33 TBX20 SOS1 NOTCH1
46 pulmonary valve morphogenesis GO:0003184 9.26 SMAD6 NOTCH1 JAG1 HEY2
47 aortic valve morphogenesis GO:0003180 9.23 TBX20 SMAD6 NOTCH1 NKX2-5 JAG1 HEY2

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 8.62 FBN1 ELN
Sources

Sources for Aortic Valve Disease 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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