AOVD1
MCID: ART115
MIFTS: 75

Aortic Valve Disease 1 (AOVD1)

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

Aliases & Classifications for Aortic Valve Disease 1

MalaCards integrated aliases for Aortic Valve Disease 1:

Name: Aortic Valve Disease 1 56 12 73 15 71
Bicuspid Aortic Valve 56 74 73 36 29 54 6
Aortic Valve Disease 56 12 73 13 54 15 17
Aortic Valve Disorder 29 6 71
Abnormality of the Aortic Valve 29 6
Familial Bicuspid Aortic Valve 12 58
Bicuspid Aortic Valve Disease 12 15
Aortic Valve Calcification 17 71
Aovd1 56 73
Bav 56 73
Aortic Valve, Calcification of 56
Calcification of Aortic Valve 73
Aortic Valve Disease, Type 1 39
Aortic Valve Disease; Aovd 56
Bicuspid Aortic Valve; Bav 56
Aortic Stenosis, Calcific 56
Calcific Aortic Stenosis 73
Aortic Valve, Bicuspid 56
Aortic Valve Disease 2 71
Familial Bav 58
Aovd 56

Characteristics:

Orphanet epidemiological data:

58
familial bicuspid aortic valve
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
aortic valve disease 1:
Inheritance autosomal dominant inheritance


Classifications:

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 56 109730
OMIM Phenotypic Series 56 PS109730
KEGG 36 H00554
ICD9CM 34 424.1
MeSH 43 D001024
NCIt 49 C78650
SNOMED-CT 67 8722008
ICD10 32 I35.9 I39.1
ICD10 via Orphanet 33 Q23.1
Orphanet 58 ORPHA402075
UMLS 71 C0428791 C1260873 C3542024 more

Summaries for Aortic Valve Disease 1

OMIM : 56 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)

MalaCards based summary : Aortic Valve Disease 1, also known as bicuspid aortic valve, 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 Clopidogrel and Aspirin 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

KEGG : 36 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 : 73 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 : 74 Bicuspid aortic valve (BAV) is an inherited form of heart disease in which two of the leaflets of the... 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 360)
# Related Disease Score Top Affiliating Genes
1 aortic valve insufficiency 34.3 TGFBR2 MYH11 GATA5 FBN1 ELN EFEMP2
2 aortic valve disease 2 33.2 SMAD6 NOTCH1 NKX2-5 MIR29B1 FBN1 ELN
3 patent ductus arteriosus 1 32.3 TGFBR2 SOS1 NOTCH1 NKX2-5 MYH11 JAG1
4 aortic aneurysm 32.0 TGFBR2 NOTCH1 MYH11 MIR29B1 FBN2 FBN1
5 heart valve disease 32.0 NKX2-5 MIR29B1 FBN1 ELN
6 loeys-dietz syndrome 32.0 TGFBR2 SMAD6 MYH11 FBN2 FBN1 ELN
7 aneurysm 32.0 TGFBR2 NOTCH1 MYH11 FBN2 FBN1 ELN
8 left ventricular noncompaction 31.9 NOTCH1 NKX2-5 JAG1 HEY2 DSP
9 aortic dissection 31.9 TGFBR2 MYH11 FBN1 ELN ACTA2
10 hypoplastic left heart syndrome 31.9 SMAD6 NOTCH1 NKX2-5 JAG1 HEY2 GATA5
11 connective tissue disease 31.6 TGFBR2 NOTCH1 MYH11 MIR29B1 FBN2 FBN1
12 marfan syndrome 31.6 TGFBR2 NOTCH1 MYH11 FBN2 FBN1 ELN
13 heart septal defect 31.6 SOS1 NOTCH1 NKX2-5 JAG1 HEY2 GATA5
14 intracranial aneurysm 31.6 TGFBR2 FBN2 ELN
15 ventricular septal defect 31.5 TGFBR2 NOTCH1 NKX2-5 JAG1 GATA5
16 heart disease 31.5 SOS1 NOTCH1 NKX2-5 JAG1 H19 GATA5
17 arterial tortuosity syndrome 31.4 TGFBR2 MYH11 FBN1 ELN EFEMP2 ACTA2
18 pulmonary valve stenosis 31.4 SOS1 NKX2-5 JAG1 FBN1
19 heart, malformation of 31.3 NOTCH1 NKX2-5 JAG1
20 aortic aneurysm, familial thoracic 1 31.3 TGFBR2 SMAD6 NOTCH1 MYH11 GATA5 FBN2
21 aortic aneurysm, familial abdominal, 1 31.3 MIR29B1 H19 FBN1 ELN
22 hypertrophic cardiomyopathy 31.2 SOS1 NKX2-5 MT-ATP8 MT-ATP6 DSP
23 aortic disease 31.2 TGFBR2 NOTCH1 MYH11 MIR29B1 GATA5 FBN1
24 double outlet right ventricle 31.2 NOTCH1 NKX2-5 GATA5
25 tetralogy of fallot 31.1 SOS1 NOTCH1 NKX2-5 MYH11 JAG1 HEY2
26 atrial heart septal defect 31.1 SOS1 NOTCH1 NKX2-5 JAG1 HEY2 GATA5
27 orthostatic intolerance 31.0 TGFBR2 MYH11 MIR29B1 FBN2 FBN1 ELN
28 adams-oliver syndrome 30.9 NOTCH1 JAG1 HEY2 HEY1
29 pulmonary valve disease 30.9 SOS1 NKX2-5 FBN1
30 patent foramen ovale 30.9 NKX2-5 GATA5 FBN1 ELN
31 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 12.8
32 multicentric osteolysis, nodulosis, and arthropathy 11.5
33 periventricular nodular heterotopia 1 11.5
34 loeys-dietz syndrome 4 11.5
35 congenital heart defects, multiple types, 2 11.5
36 kleefstra syndrome 11.5
37 scheie syndrome 11.3
38 aortic valve disease 3 11.3
39 familial thoracic aortic aneurysm and aortic dissection 10.9 TGFBR2 NOTCH1 MYH11 FBN2 FBN1 ELN
40 loeys-dietz syndrome 3 10.9 TGFBR2 SMAD6 MYH11 FBN1 EFEMP2 ACTA2
41 pulmonic stenosis 10.9 SOS1 MYH11 JAG1 GATA5
42 heritable thoracic aortic disease 10.8 TGFBR2 MYH11 FBN1 ACTA2
43 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.8 NOTCH1 JAG1 HEY2 HEY1
44 tricuspid valve prolapse 10.8 TGFBR2 FBN2 FBN1 EFEMP2
45 alagille syndrome 1 10.8 NOTCH1 JAG1 HEY2 HEY1
46 loeys-dietz syndrome 1 10.8 TGFBR2 MYH11 FBN1 ACTA2
47 atrioventricular septal defect 10.8 NKX2-5 HEY2 GATA5 ELN
48 collagen disease 10.8 TGFBR2 FBN1 ELN ACTA2
49 ureteric orifice cancer 10.8 FBN1 ELN EFEMP2
50 aortic aneurysm, familial thoracic 2 10.8 FBN2 FBN1 ACTA2

Comorbidity relations with Aortic Valve Disease 1 via Phenotypic Disease Network (PDN): (show top 50) (show all 68)


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
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 Peripheral Vascular Disease

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 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:

56
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

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

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.77 TGFBR2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.77 TGFBR2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.77 NOTCH1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.77 SOS1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.77 SOS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.77 TGFBR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.77 NOTCH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.77 NOTCH1 TGFBR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.77 SOS1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.77 EFEMP2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.77 EFEMP2 NOTCH1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.77 TGFBR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.77 SOS1 TGFBR2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.77 TGFBR2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.77 TGFBR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-28 9.77 NOTCH1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.77 EFEMP2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.77 TGFBR2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.77 TGFBR2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.77 NOTCH1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.77 TGFBR2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.77 SOS1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.77 TGFBR2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.77 EFEMP2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.77 SOS1

MGI Mouse Phenotypes related to Aortic Valve Disease 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.35 ACTA2 DSP EFEMP2 FBN1 FBN2 GATA5
2 cellular MP:0005384 10.23 DSP EFEMP2 FBN1 FBN2 GATA5 HEY1
3 craniofacial MP:0005382 10.13 DSP FBN1 FBN2 HEY1 HEY2 JAG1
4 mortality/aging MP:0010768 10.1 DSP EFEMP2 FBN1 FBN2 GATA5 HEY1
5 integument MP:0010771 10.06 DSP EFEMP2 FBN1 FBN2 GATA5 JAG1
6 muscle MP:0005369 10.03 ACTA2 DSP EFEMP2 FBN1 FBN2 GATA5
7 embryo MP:0005380 10.02 DSP FBN1 HEY1 HEY2 JAG1 NKX2-5
8 digestive/alimentary MP:0005381 10.01 DSP GATA5 JAG1 MYH11 NKX2-5 NOTCH1
9 renal/urinary system MP:0005367 9.5 FBN1 FBN2 GATA5 JAG1 MYH11 NOTCH1
10 respiratory system MP:0005388 9.23 EFEMP2 FBN1 FBN2 HEY2 MYH11 NKX2-5

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 116)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
2
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
3
Ticagrelor Approved Phase 4 274693-27-5 9871419
4
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
5
Losartan Approved Phase 4 114798-26-4 3961
6
Amlodipine Approved Phase 4 88150-42-9 2162
7
Chlorthalidone Approved Phase 4 77-36-1 2732
8
Phylloquinone Approved, Investigational Phase 4 84-80-0
9
Phenprocoumon Approved, Investigational Phase 4 435-97-2 54680692 9908
10
Acenocoumarol Approved, Investigational Phase 4 152-72-7 9052 54676537
11
Atorvastatin Approved Phase 4 134523-00-5 60823
12
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
13
Coumarin Experimental Phase 4 91-64-5 323
14 Menaquinone Investigational Phase 4 1182-68-9
15
Dabigatran Investigational Phase 4 211914-51-1
16 Neurotransmitter Agents Phase 4
17 Analgesics, Non-Narcotic Phase 4
18 Fibrinolytic Agents Phase 4
19 Analgesics Phase 4
20 Purinergic P2Y Receptor Antagonists Phase 4
21 Cyclooxygenase Inhibitors Phase 4
22 Platelet Aggregation Inhibitors Phase 4
23 Antipyretics Phase 4
24 Antirheumatic Agents Phase 4
25 Anti-Inflammatory Agents Phase 4
26 Anti-Inflammatory Agents, Non-Steroidal Phase 4
27 Angiotensin II Type 1 Receptor Blockers Phase 4
28 Angiotensinogen Phase 4
29 Angiotensin Receptor Antagonists Phase 4
30 Antihypertensive Agents Phase 4
31 Anti-Arrhythmia Agents Phase 4
32 Giapreza Phase 4
33 Hormones Phase 4
34 Sodium Chloride Symporter Inhibitors Phase 4
35 Vasodilator Agents Phase 4
36 diuretics Phase 4
37 calcium channel blockers Phase 4
38 Vitamins Phase 4
39 Vitamin K Phase 4
40 naphthoquinone Phase 4
41 Protamines Phase 4
42 Hypolipidemic Agents Phase 4
43 Anticholesteremic Agents Phase 4
44 Lipid Regulating Agents Phase 4
45 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
46 Antimetabolites Phase 4
47
Warfarin Approved Phase 3 81-81-2 6691 54678486
48
Apixaban Approved Phase 3 503612-47-3 10182969
49
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
50
Atenolol Approved Phase 3 29122-68-7 2249

Interventional clinical trials:

(show top 50) (show all 196)
# 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 Effects of Atorvastatin Treatment on Left Ventricular Diastolic Function in Peritoneal Dialysis Patients (ALEVENT) Unknown status NCT01503671 Phase 4 Atorvastatin
3 Antiplatelet Therapy for Patients Undergoing Transcatheter Aortic Valve Implantation Completed NCT02247128 Phase 4 Aspirin + clopidogrel;Aspirin monotherapy;OAC + clopicogrel;OAC monotherapy
4 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
5 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
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 Influence of Rivaroxaban Compared to Vitamin K Antagonist Treatment Upon Development of Cardiovascular Calcification in Patients With Atrial Fibrillation and/ or Pulmonary Embolism (IRIVASC- Trial) Active, not recruiting NCT02066662 Phase 4 Rivaroxaban or Marcumar
8 Periprocedural Continuation Versus Interruption of Oral Anticoagulant Therapy and Protamine Use During Transcatheter Aortic Valve Implantation (POPular PAUSE TAVI) Not yet recruiting NCT04437303 Phase 4 Continuation of oral anticoagulants;Interruption of oral anticoagulants
9 The Effect of Statin Therapy (Atorvastatin) on the Progression of Calcific Valvular Aortic Stenosis Terminated NCT00590135 Phase 4 atorvastatin (Lipitor)
10 Value of Oral Phytate (InsP6) in the Prevention of Progression of the Cardiovascular Calcifications Unknown status NCT01000233 Phase 2, Phase 3
11 Perceval S Valve Clinical Trial for Extended CE Mark Unknown status NCT01368666 Phase 2, Phase 3
12 The Impact of Intraoperative Microemboli Load on Postoperative Brain Injury in Patients Undergoing Aortic Valve Replacement Preformed With Two Different Surgical Approaches Unknown status NCT02697786 Phase 3
13 Vitamin K Containing Nutritional Supplement for Activation of Matrix-GIa-proteins (MGP) and Inhibition of Aortic Valve Calcification Process Completed NCT00785109 Phase 3
14 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
15 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
16 Evaluating the Effectiveness of Atorvastatin on the Progression of Aortic Dilatation and Valvular Degeneration in Patients With Bicuspid Aortic Valve (BICATOR) Active, not recruiting NCT02679261 Phase 3 Atorvastatin;Placebo
17 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
18 Beta Blockers and Angiotensin Receptor Blockers in Bicuspid Aortic Valve Disease Aortopathy (BAV Study) Terminated NCT01202721 Phase 3 Atenolol;Telmisartan
19 RADiation Following Percutaneous Balloon Aortic Valvuloplasty to Prevent Restenosis Terminated NCT00538759 Phase 2, Phase 3
20 Colchicine Versus Placebo in Post-Cardiac Surgery Patients to Prevent Post-Pericardiotomy Syndrome and Atrial Fibrillation Terminated NCT02177266 Phase 3 Colchicine;Placebo
21 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
22 Proprotein Convertase Subtilisin Kexin Type 9 Inhibitor in Aortic Stenosis Unknown status NCT03051360 Phase 2 PCSK9 Inhibitor [EPC];Placebos
23 SALTIRE II: Bisphosphonates and RANKL Inhibition in Aortic Stenosis Completed NCT02132026 Phase 2 Denosumab;Alendronic Acid;Denosumab Placebo;Alendronic Acid Placebo
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 Covered Cheatham Platinum Stents for the Prevention or Treatment of Aortic Wall Injury Associated With Coarctation of the Aorta Completed NCT01278303 Phase 2
26 Decalcification of the Aortic Valve by Vitamin K2 (Menaquinone-7) Recruiting NCT03305536 Phase 2
27 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
28 Treatment to Reduce Vascular Calcification In Hemodialysis Patients Using Vitamin K Active, not recruiting NCT02870829 Phase 2 menaquinone-7
29 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
30 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
31 Whole Exome Sequencing in Bicuspid Aortic Valve Patients Unknown status NCT02899624
32 Risk Markers of Coronary Artery Disease Associated With Calcific Aortic Valve Disease Unknown status NCT00375336
33 Prospective Study Focused on idEntification of cliNical, Biological and Imagistic Parameters in rapId-proGression Subgroup Patients With Moderate Aortic Stenosis Unknown status NCT01575249
34 Prevalence and Significance of Mutations in Genes Encoding NaPi-co-transporters in the Development of CAVD Unknown status NCT02516800
35 Changes in Ascending Aorta Size After Transcatheter Aortic Valve Replacement in Severe Bicuspid Aortic Stenosis: A Pilot Study With Echocardiographic Follow-up Unknown status NCT03051334
36 Feasibility of Continuous Noninvasive Finger Arterial Blood Pressure Measurement for Detection and Staging of Aortic Stenosis Unknown status NCT03088787
37 Catheter-Based Transapical Implantation of the Ventor Embracer™ Heart Valve Prosthesis in Patients With Severe Aortic Valve Disease Unknown status NCT00677638
38 BIVOLUTX: Bicuspid Aortic Stenosis With Evolut Platform International Experience. Unknown status NCT03495050
39 Exercise Stress MRI to Evaluate Aortic Function (Compliance, Distensibility, Pulse Wave Velocity) and Left Ventricular Function : Validation in Healthy Volunteers and in Selected Patients. A Pilot Study. Unknown status NCT02018835
40 Copenhagen Baby Heart Unknown status NCT02753348
41 Aortic Stenosis in Elderly : Determinant of Progression. COFRASA (French Cohort) Unknown status NCT00338676
42 Registry Study of Aortic Valve Diseases in Chinese Elderly Unknown status NCT02623907
43 Long-Term Follow-up After the Autograft Aortic Valve Procedure (Ross Operation)-the German-Dutch- Ross Registry Unknown status NCT00708409
44 LOVE-COARCT Study: Long-term Outcomes and Vascular Evaluation After Coarctation of the Aorta Treatment Unknown status NCT03262753
45 Proof of Concept of Model Based Cardiovascular Prediction Unknown status NCT02591940
46 Smart - Systems Medicine of Heart Failure Unknown status NCT03172338
47 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
48 The Connection Between Mechanical Alternans Measured by Pressure-Volume (PV) Loop Catheter in Patients With Ischemic Heart Failure and the Occurrence of Microvolt T Wave Alternans (MTWA) Unknown status NCT01281241
49 Retrospective Observational Study of Patients With a Sutureless Aortic Valve Implanted in the Cardiovascular and Thoracic Surgery Department of Dijon CHU Unknown status NCT03259945
50 A sTudy invesTigating the Role of Occult cArdiaC Amyloid in The Elderly With Aortic Stenosis Unknown status NCT03029026

Search NIH Clinical Center for Aortic Valve Disease 1

Genetic Tests for Aortic Valve Disease 1

Genetic tests related to Aortic Valve Disease 1:

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

Anatomical Context for Aortic Valve Disease 1

MalaCards organs/tissues related to Aortic Valve Disease 1:

40
Heart, Endothelial, Smooth Muscle, Brain, Testes, Neutrophil, Bone

Publications for Aortic Valve Disease 1

Articles related to Aortic Valve Disease 1:

(show top 50) (show all 2988)
# Title Authors PMID Year
1
Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 56 54 61 6
16729972 2006
2
Mutations in NOTCH1 cause aortic valve disease. 56 6 61 54
16025100 2005
3
Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. 54 56 61
17662764 2007
4
Deregulation of Notch1 pathway and circulating endothelial progenitor cell (EPC) number in patients with bicuspid aortic valve with and without ascending aorta aneurysm. 61 56
30218064 2018
5
Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. 56 61
17203300 2007
6
Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. 61 56
15690347 2005
7
Autosomal dominant inheritance of left ventricular outflow tract obstruction. 61 56
15712195 2005
8
Bicuspid aortic valve is heritable. 56 61
15234422 2004
9
Ascending aortic aneurysm and dissection in young adults with bicuspid aortic valve: implications for echocardiographic surveillance. 56 61
9631276 1998
10
Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance. 61 56
8723060 1996
11
Congenitally bicuspid aortic valve in multiple family members. 61 56
8109558 1994
12
Association of aortic dilation with regurgitant, stenotic and functionally normal bicuspid aortic valves. 56 61
1732353 1992
13
Aortic aneurysm in patients with functionally normal or minimally stenotic bicuspid aortic valve. 61 56
2006634 1991
14
Echocardiography reveals a high incidence of bicuspid aortic valve in Turner syndrome. 56 61
6848727 1983
15
Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families. 56 61
737099 1978
16
Association of congenital bicuspid aortic valve and erdheim's cystic medial necrosis. 61 56
4112361 1972
17
The congenitally bicuspid aortic valve. A study of 85 autopsy cases. 61 56
5427836 1970
18
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 6
25173340 2014
19
Genetic associations with valvular calcification and aortic stenosis. 56
23388002 2013
20
Evaluation of the adolescent or adult with some features of Marfan syndrome. 6
22237449 2012
21
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. 56
18593716 2008
22
Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. 56
17676603 2007
23
Dissection of the aorta associated with congenital malformation of the aortic valve. 56
1993792 1991
24
[Expression of fibrillin-1 in congenital bicuspid aortic valves]. 54 61
17785109 2007
25
[Gene polymorphisms leading to calcified and stenotic aortic valves]. 54 61
17072776 2006
26
Molecular genetics of aortic valve disease. 54 61
16601454 2006
27
Tissue microarray detection of matrix metalloproteinases, in diseased tricuspid and bicuspid aortic valves with or without pathology of the ascending aorta. 61 54
15541969 2004
28
Vascular matrix remodeling in patients with bicuspid aortic valve malformations: implications for aortic dilatation. 61 54
14502156 2003
29
Impact of histopathological changes in ascending aortic diseases. 61
32331910 2020
30
Early and Late Results After David vs Bentall Procedure: A Propensity Matched Analysis. 61
31786286 2020
31
Prevalence of permanent pacemaker implantation after conventional aortic valve replacement-a propensity-matched analysis in patients with a bicuspid or tricuspid aortic valve: a benchmark for transcatheter aortic valve replacement. 61
32211779 2020
32
Commentary: Bicuspid aortic valve geometry-A tale of two valves. 61
31420148 2020
33
Two different geometric orientations for aortic neoroot creation in bicuspid aortic valve repair with root reimplantation. 61
31982122 2020
34
Effect of bicuspid aortic valve phenotype on progression of aortic stenosis. 61
32386199 2020
35
Prognostic implications of left ventricular global longitudinal strain in patients with bicuspid aortic valve disease and preserved left ventricular ejection fraction. 61
31633159 2020
36
Aortic valve-sparing root replacement in patients with bicuspid aortic valve: long-term outcome with the David I procedure over 20 years. 61
32243510 2020
37
Transcatheter aortic valve replacement for patients with severe bicuspid aortic stenosis. 61
32361278 2020
38
Outcomes of aortic coarctation surgical repair in adolescents and adults. 61
32221581 2020
39
Cardiac involvement in classical or hypermobile Ehlers-Danlos syndrome is uncommon. 61
32518415 2020
40
Sinus of Valsalva Thrombosis Following Transcatheter Aortic Valve Replacement in a Bicuspid Aortic Valve. 61
32535002 2020
41
Double-hit mutations in bicuspid aortic valve and blunt traumatic acute aortic dissection. 61
32544455 2020
42
Double-Orifice Mitral Valve Associated with Bicuspid Aortic Valve and Primary Pulmonary Vein Stenosis. 61
32577596 2020
43
Sports Participation and Exercise Restriction in Children with Isolated Bicuspid Aortic Valve. 61
32291092 2020
44
Clinical history and management of bicuspid aortic valve in children and adolescents. 61
32497585 2020
45
Stage B Aortic Regurgitation in Bicuspid Aortic Valve: New Observations on Progression Rate and Predictors. 61
32192931 2020
46
Three cusps are better than two: bicuspid aortic valve and implications for military service. 61
30429296 2020
47
Biomechanical Assessment of Bicuspid Aortic Valve Phenotypes: A Fluid-Structure Interaction Modelling Approach. 61
32519086 2020
48
The role of stress concentration in calcified bicuspid aortic valve. 61
32517630 2020
49
Circulating microRNAs vs. aortic diameter in bicuspid aortic valve aortopathy. 61
32498553 2020
50
Multimodality imaging in bicuspid aortic valve. 61
32531300 2020

Variations for Aortic Valve Disease 1

ClinVar genetic disease variations for Aortic Valve Disease 1:

6 (show top 50) (show all 87) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-ATP8 NC_012920.1:m.8420_8421insATAinsertion Pathogenic 626321 rs1569484208 MT:8418-8419 MT:8418-8419
2 NOTCH1 NOTCH1, PRO1797HISSNV Pathogenic 635566
3 NOTCH1 NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter)SNV Pathogenic 12476 rs41309764 9:139402690-139402690 9:136508238-136508238
4 NOTCH1 NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs)deletion Pathogenic 12477 rs41309766 9:139399836-139399836 9:136505384-136505384
5 SOS1 NM_005633.3(SOS1):c.1655G>C (p.Arg552Thr)SNV Pathogenic 40682 rs397517154 2:39249914-39249914 2:39022773-39022773
6 NOTCH1 NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter)SNV Pathogenic 221997 rs1057515423 9:139401304-139401304 9:136506852-136506852
7 NOTCH1 NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter)SNV Pathogenic 221998 rs1057515422 9:139407501-139407501 9:136513049-136513049
8 46;XY;t(1;5)(p35.3;q31.3)dnTranslocation Pathogenic 267817
9 DSP NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)SNV Pathogenic 374137 rs1057518920 6:7575619-7575619 6:7575386-7575386
10 NOTCH1 NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter)SNV Pathogenic 374271 rs1057518661 9:139391843-139391843 9:136497391-136497391
11 LCTL , SMAD3 , SMAD6 , ZWILCH GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)copy number loss Pathogenic 590960 15:66817545-67418205
12 SMAD6 NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu)SNV Pathogenic 590966 rs1567092020 15:66996366-66996366 15:66704028-66704028
13 MT-ATP6 NC_012920.1:m.8751_8752insAAAinsertion Pathogenic 590899 rs1569484234 MT:8750-8751 MT:8750-8751
14 ROBO4 NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys)SNV Likely pathogenic 560394 rs201393279 11:124767038-124767038 11:124897142-124897142
15 ROBO4 NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr)SNV Likely pathogenic 560395 rs138370967 11:124766945-124766945 11:124897049-124897049
16 ROBO4 NM_019055.6(ROBO4):c.695C>T (p.Thr232Met)SNV Likely pathogenic 560396 rs150700978 11:124765793-124765793 11:124895897-124895897
17 ROBO4 NM_019055.6(ROBO4):c.740T>C (p.Val247Ala)SNV Likely pathogenic 560399 rs779392207 11:124765748-124765748 11:124895852-124895852
18 ROBO4 NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser)SNV Likely pathogenic 560400 rs755747435 11:124765550-124765550 11:124895654-124895654
19 ROBO4 NM_019055.6(ROBO4):c.1233T>A (p.His411Gln)SNV Likely pathogenic 560397 rs1565326476 11:124764182-124764182 11:124894286-124894286
20 SMAD6 NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu)SNV Likely pathogenic 590965 rs900988907 15:67073386-67073386 15:66781048-66781048
21 TAB2 NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)SNV Likely pathogenic 373443 rs1057518422 6:149700090-149700090 6:149378954-149378954
22 DSG1 NM_001942.4(DSG1):c.604G>T (p.Glu202Ter)SNV Likely pathogenic 373942 rs1057518788 18:28911750-28911750 18:31331787-31331787
23 NOTCH1 NM_017617.5(NOTCH1):c.2380del (p.Glu794fs)deletion Likely pathogenic 216971 rs863224901 9:139407560-139407560 9:136513108-136513108
24 ROBO4 NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu)indel Likely pathogenic 560402 rs1565322176 11:124757062-124757063 11:124887166-124887167
25 ROBO4 NM_019055.6(ROBO4):c.2056+1G>TSNV Likely pathogenic 560404 rs764038221 11:124757628-124757628 11:124887732-124887732
26 ROBO4 NM_019055.6(ROBO4):c.1864G>C (p.Asp622His)SNV Likely pathogenic 560401 rs138111911 11:124761279-124761279 11:124891383-124891383
27 ROBO4 NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs)deletion Likely pathogenic 560405 rs755569942 11:124761632-124761645 11:124891736-124891749
28 ROBO4 NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter)SNV Likely pathogenic 560398 rs201492213 11:124761441-124761441 11:124891545-124891545
29 SMAD6 NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)SNV Conflicting interpretations of pathogenicity 471759 rs1246889300 15:66995638-66995638 15:66703300-66703300
30 NOTCH1 NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu)SNV Conflicting interpretations of pathogenicity 409080 rs375897519 9:139396919-139396919 9:136502467-136502467
31 COL5A1 NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe)SNV Conflicting interpretations of pathogenicity 180298 rs150147262 9:137593039-137593039 9:134701193-134701193
32 NOTCH1 NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val)SNV Conflicting interpretations of pathogenicity 134907 rs369067940 9:139410139-139410139 9:136515687-136515687
33 NOTCH1 NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)SNV Conflicting interpretations of pathogenicity 134921 rs201620358 9:139405111-139405111 9:136510659-136510659
34 NOTCH1 NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met)SNV Conflicting interpretations of pathogenicity 520096 rs200562991 9:139412350-139412350 9:136517898-136517898
35 NOTCH1 NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met)SNV Conflicting interpretations of pathogenicity 264528 rs61755997 9:139410051-139410051 9:136515599-136515599
36 SMAD6 NM_005585.5(SMAD6):c.794del (p.His265fs)deletion Conflicting interpretations of pathogenicity 590964 rs1567092071 15:66996390-66996390 15:66704052-66704052
37 LSM1 NM_014462.3(LSM1):c.231+4A>CSNV Uncertain significance 623485 rs775468919 8:38027316-38027316 8:38169798-38169798
38 NOTCH1 NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn)SNV Uncertain significance 264044 rs763187824 9:139413985-139413985 9:136519533-136519533
39 ROBO4 NM_019055.6(ROBO4):c.1529A>T (p.Asp510Val)SNV Uncertain significance 560403 rs1565325937 11:124763602-124763602 11:124893706-124893706
40 SMAD6 NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro)SNV Uncertain significance 590963 rs1419095990 15:66996288-66996288 15:66703950-66703950
41 SMAD6 NM_005585.5(SMAD6):c.691C>G (p.Arg231Gly)SNV Uncertain significance 590962 rs1395007983 15:66996287-66996287 15:66703949-66703949
42 SMAD6 NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala)SNV Uncertain significance 590961 rs768542939 15:66996207-66996207 15:66703869-66703869
43 DGCR6 , PRODH , USP18 GRCh37/hg19 22q11.21(chr22:18844632-19008108)copy number loss Uncertain significance 590955 22:18656495-19016663
44 FBN3 GRCh37/hg19 19p13.2(chr19:8213468-8227432)copy number gain Uncertain significance 590954 19:8206748-8235774
45 ZNF626 GRCh37/hg19 19p12(chr19:20834979-20987550)copy number gain Uncertain significance 590953 19:20826692-21001965
46 ABCC6 , NOMO3 GRCh37/hg19 16p13.11-12.3(chr16:16633361-16688008)copy number gain Uncertain significance 590952 16:16308351-16878729
47 KLF12 GRCh37/hg19 13q22.1(chr13:74152544-74283131)copy number gain Uncertain significance 590951 13:74133837-74298889
48 DPY19L1 , NPSR1 , TBX20 GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065)copy number gain Uncertain significance 590950 7:34899235-35269625
49 covers 16 genes, none of which curated to show dosage sensitivity GRCh37/hg19 1q42.13(chr1:228297613-228703236)copy number gain Uncertain significance 590949 1:228224824-228784907
50 TBX20 NM_001077653.2(TBX20):c.117C>G (p.Ile39Met)SNV Uncertain significance 590956 rs1562569196 7:35293115-35293115 7:35253504-35253504

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 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:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 TGFBR2 SOS1 NOTCH1 MYH11 FBN2 FBN1
2
Show member pathways
13.18 TGFBR2 SOS1 MYH11 FBN2 FBN1 ELN
3
Show member pathways
12.87 SOS1 FBN2 FBN1 ELN EFEMP2 ACTA2
4 12.57 TGFBR2 SOS1 NOTCH1 JAG1 HEY2 HEY1
5
Show member pathways
12.36 NOTCH1 JAG1 HEY2 HEY1
6
Show member pathways
12.3 TGFBR2 SOS1 NOTCH1 JAG1 HEY2 HEY1
7
Show member pathways
12.01 NOTCH1 JAG1 HEY2 HEY1
8 11.66 TGFBR2 SMAD6 FBN1
9 11.31 NOTCH1 HEY2 HEY1
10
Show member pathways
11.12 FBN2 FBN1 ELN EFEMP2
11 10.93 NOTCH1 JAG1 HEY1
12 10.83 TGFBR2 FBN2 FBN1
13 10.79 NOTCH1 JAG1
14 10.75 NOTCH1 JAG1
15 10.59 NOTCH1 NKX2-5 HEY2 HEY1

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 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.16 MT-ATP8 MT-ATP6
2 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 8.96 MT-ATP8 MT-ATP6
3 microfibril GO:0001527 8.62 FBN2 FBN1

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

(show top 50) (show all 61)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.14 NOTCH1 NKX2-5 HEY2 HEY1 GATA5 ACTA2
2 positive regulation of gene expression GO:0010628 10.04 NOTCH1 NKX2-5 MIR29B1 HEY2 HEY1 GATA5
3 negative regulation of gene expression GO:0010629 10.03 NOTCH1 MIR29B1 HEY2 GATA5
4 heart development GO:0007507 9.96 TGFBR2 NOTCH1 NKX2-5 HEY2 FBN1
5 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.88 TGFBR2 SMAD6 MIR29B1
6 cell fate commitment GO:0045165 9.87 NOTCH1 HEY2 GATA5
7 heart looping GO:0001947 9.87 TGFBR2 NOTCH1 NKX2-5
8 camera-type eye development GO:0043010 9.86 JAG1 FBN2 FBN1
9 vasculogenesis GO:0001570 9.85 TGFBR2 NKX2-5 HEY2
10 negative regulation of neuron differentiation GO:0045665 9.85 NOTCH1 JAG1 HEY1
11 keratinocyte differentiation GO:0030216 9.85 NOTCH1 JAG1 DSP
12 Notch signaling pathway GO:0007219 9.85 TGFBR2 NOTCH1 JAG1 HEY2 HEY1
13 negative regulation of Notch signaling pathway GO:0045746 9.83 JAG1 HEY2 HEY1
14 regulation of neurogenesis GO:0050767 9.83 NOTCH1 HEY2 HEY1
15 outflow tract morphogenesis GO:0003151 9.8 TGFBR2 NOTCH1 NKX2-5 HEY2 ELN
16 outflow tract septum morphogenesis GO:0003148 9.76 TGFBR2 SMAD6 NKX2-5
17 negative regulation of myotube differentiation GO:0010832 9.73 NOTCH1 NKX2-5
18 endocardial cushion morphogenesis GO:0003203 9.73 NOTCH1 HEY1
19 negative regulation of stem cell differentiation GO:2000737 9.72 NOTCH1 JAG1
20 cardiac muscle tissue morphogenesis GO:0055008 9.72 NOTCH1 NKX2-5
21 cardiac muscle cell proliferation GO:0060038 9.72 NOTCH1 NKX2-5
22 cardiac right ventricle morphogenesis GO:0003215 9.72 JAG1 HEY2
23 negative regulation of transcription regulatory region DNA binding GO:2000678 9.72 HEY2 HEY1
24 ventricular trabecula myocardium morphogenesis GO:0003222 9.72 NOTCH1 NKX2-5 HEY2
25 atrial septum morphogenesis GO:0060413 9.71 NKX2-5 HEY2
26 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.71 NOTCH1 HEY2
27 atrioventricular valve morphogenesis GO:0003181 9.71 TGFBR2 NOTCH1
28 response to muramyl dipeptide GO:0032495 9.71 NOTCH1 JAG1
29 heart trabecula formation GO:0060347 9.71 NKX2-5 HEY2 HEY1
30 ventricular cardiac muscle cell development GO:0055015 9.7 NKX2-5 HEY2
31 elastic fiber assembly GO:0048251 9.7 MYH11 EFEMP2
32 embryonic eye morphogenesis GO:0048048 9.7 FBN2 FBN1
33 cardiac epithelial to mesenchymal transition GO:0060317 9.7 NOTCH1 HEY2 HEY1
34 heart trabecula morphogenesis GO:0061384 9.69 SOS1 NOTCH1
35 dorsal aorta morphogenesis GO:0035912 9.69 HEY2 HEY1
36 cardiac left ventricle morphogenesis GO:0003214 9.69 TGFBR2 NOTCH1 HEY2
37 pericardium morphogenesis GO:0003344 9.68 SOS1 NOTCH1
38 cardiac atrium morphogenesis GO:0003209 9.67 SOS1 NOTCH1
39 pulmonary artery morphogenesis GO:0061156 9.67 JAG1 HEY2
40 cardiac septum morphogenesis GO:0060411 9.67 NOTCH1 JAG1 HEY2 HEY1
41 mesenchymal cell development GO:0014031 9.66 NOTCH1 HEY2
42 circulatory system development GO:0072359 9.65 HEY2 HEY1
43 negative regulation of biomineral tissue development GO:0070168 9.65 NOTCH1 HEY2 HEY1
44 ventricular septum morphogenesis GO:0060412 9.65 TGFBR2 NOTCH1 NKX2-5 HEY2 HEY1
45 glomerular mesangial cell development GO:0072144 9.64 NOTCH1 ACTA2
46 sequestering of TGFbeta in extracellular matrix GO:0035583 9.64 FBN2 FBN1
47 endocardial cushion fusion GO:0003274 9.63 TGFBR2 GATA5
48 tricuspid valve morphogenesis GO:0003186 9.63 TGFBR2 HEY2
49 regulation of vasculogenesis GO:2001212 9.62 HEY2 HEY1
50 negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation GO:2000820 9.62 HEY2 HEY1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.73 SMAD6 NOTCH1 NKX2-5 HEY2 HEY1 GATA5
2 extracellular matrix structural constituent GO:0005201 9.26 FBN2 FBN1 ELN EFEMP2
3 type I transforming growth factor beta receptor binding GO:0034713 9.16 TGFBR2 SMAD6
4 extracellular matrix constituent conferring elasticity GO:0030023 8.8 FBN2 FBN1 ELN

Sources for Aortic Valve Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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