AOVD1
MCID: ART115
MIFTS: 71

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 57 12 75 73
Bicuspid Aortic Valve 57 76 75 37 29 55 6
Aortic Valve Disease 57 12 75 13 55 15
Aortic Valve Disorder 29 6 73
Abnormality of the Aortic Valve 29 6
Familial Bicuspid Aortic Valve 12 59
Bicuspid Aortic Valve Disease 12 15
Aovd1 57 75
Bav 57 75
Aortic Valve, Calcification of 57
Calcification of Aortic Valve 75
Aortic Valve Disease, Type 1 40
Bicuspid Aortic Valve; Bav 57
Aortic Valve Calcification 73
Aortic Stenosis, Calcific 57
Calcific Aortic Stenosis 75
Aortic Valve, Bicuspid 57
Aortic Valve Disease 2 73
Familial Bav 59

Characteristics:

Orphanet epidemiological data:

59
familial bicuspid aortic valve
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant form


HPO:

32
aortic valve disease 1:
Inheritance autosomal dominant inheritance


Classifications:



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)

MalaCards based summary : Aortic Valve Disease 1, also known as bicuspid aortic valve, is related to aortic valve disease 2 and aortic valve insufficiency. An important gene associated with Aortic Valve Disease 1 is NOTCH1 (Notch 1), and among its related pathways/superpathways are Notch signaling pathway and TGF-beta signaling pathway. Affiliated tissues include heart, endothelial and bone, and related phenotypes are hypertension and bicuspid aortic valve

Disease Ontology : 12 A bicuspid aortic valve disease that has material basis in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.

UniProtKB/Swiss-Prot : 75 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 : 76 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
Congenital Aortic Valve Insufficiency

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

(show top 50) (show all 163)
# Related Disease Score Top Affiliating Genes
1 aortic valve disease 2 34.6 SMAD6 RUNX2 NKX2-6 ELN BMP2
2 aortic valve insufficiency 32.7 NOTCH1 NKX2-6 FBN1 ELN
3 aortic aneurysm, familial thoracic 1 31.5 TGFBR2 FBN1 ELN ACTA2
4 ventricular septal defect 31.1 NKX2-6 NKX2-5 GATA5
5 orthostatic intolerance 31.0 FBN2 FBN1 ELN
6 patent ductus arteriosus 1 31.0 NKX2-6 NKX2-5 ACTA2
7 aortic disease 31.0 TGFBR2 NOTCH1 FBN1 ELN ACTA2
8 marfan syndrome 30.9 TGFBR2 FBN2 FBN1 ELN ACTA2
9 atrial heart septal defect 30.7 TBX20 NKX2-6 NKX2-5
10 hypoplastic left heart syndrome 30.7 TBX20 SMAD6 NOTCH1 NKX2-6 NKX2-5
11 aortic aneurysm 30.6 FBN1 FBN2 NOTCH1 TGFBR2 ELN ACTA2
12 patent foramen ovale 30.4 TBX20 NKX2-6 NKX2-5
13 loeys-dietz syndrome 30.4 TGFBR2 SMAD6 FBN2 FBN1 ACTA2
14 tetralogy of fallot 30.4 TBX20 NOTCH1 NKX2-6 NKX2-5 GATA5 FBN1
15 heart disease 29.9 TBX20 SOS1 NOTCH1 NKX2-6 NKX2-5 H19
16 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 12.5
17 periventricular nodular heterotopia 1 11.4
18 loeys-dietz syndrome 4 11.4
19 congenital heart defects, multiple types, 2 11.4
20 kleefstra syndrome 11.4
21 scheie syndrome 11.1
22 endocarditis 10.9
23 infective endocarditis 10.6
24 double-orifice mitral valve 10.5
25 aneurysm of sinus of valsalva 10.5
26 left ventricular noncompaction 10.4
27 rheumatic disease 10.4
28 late-onset focal dermal elastosis 10.4 FBN1 ELN
29 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.4 FBN1 ELN
30 myocardial infarction 10.4
31 familial abdominal aortic aneurysm 10.4 FBN1 ELN
32 hypoplastic right heart syndrome 10.3 TBX20 SOS1 NOTCH1
33 craniosynostosis 7 10.3 SMAD6 BMP2
34 tricuspid valve stenosis 10.3 NOTCH1 NKX2-6 FBN1
35 polyradiculopathy 10.3 NOTCH1 BMP2 ACAN
36 tricuspid valve disease 10.3 NKX2-6 NKX2-5 FBN1
37 dental pulp calcification 10.3 FBN1 FBN2 TGFBR2
38 ischemic bone disease 10.3 RUNX2 BMP2 ACAN
39 familial thoracic aortic aneurysm and dissection 10.3 TGFBR2 FBN1
40 aortic aneurysm, familial thoracic 2 10.3 FBN1 ACTA2
41 wolff-parkinson-white syndrome 10.3 TBX20 NKX2-5 BMP2
42 heart valve disease 10.3 NKX2-6 FBN1 ELN
43 heart septal defect 10.3 TBX20 NKX2-6 NKX2-5
44 loeys-dietz syndrome 3 10.3 TGFBR2 SMAD6 FBN1 ACTA2
45 char syndrome 10.3 TGFBR2 NKX2-5 FBN1 ACTA2
46 bone resorption disease 10.3 RUNX2 LRP5 BMP2
47 bone remodeling disease 10.3 RUNX2 LRP5 BMP2
48 chronic actinic dermatitis 10.3 FBN1 ELN
49 acute myocardial infarction 10.3
50 aortic arch interruption 10.3

Comorbidity relations with Aortic Valve Disease 1 via Phenotypic Disease Network (PDN): (show top 50) (show all 72)


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 Failure Chronic Myocardial Ischemia
Congenital Aortic Valve 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 Ischemic Heart Disease
Kidney Disease Left Bundle Branch Hemiblock
Malignant Essential Hypertension Marfan Syndrome
Mitral Valve Disease Mitral Valve Stenosis

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

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
bicuspid aortic valve

Misc:
male preponderance
systolic ejection click


Clinical features from OMIM:

109730

Human phenotypes related to Aortic Valve Disease 1:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
2 bicuspid aortic valve 59 32 obligate (100%) Obligate (100%) HP:0001647
3 coarctation of aorta 59 32 hallmark (90%) Very frequent (99-80%) HP:0001680
4 hypoplastic left heart 59 32 very rare (1%) Very rare (<4-1%) HP:0004383
5 ascending aortic dissection 59 32 very rare (1%) Very rare (<4-1%) HP:0004933
6 aortic valve stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001650
7 aortic valve calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004380
8 aortic regurgitation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001659
9 heart murmur 59 32 hallmark (90%) Very frequent (99-80%) HP:0030148
10 abnormality of the left ventricular outflow tract 59 32 very rare (1%) Very rare (<4-1%) HP:0011103
11 thoracic aorta calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004962
12 dilatation of the aortic arch 59 Frequent (79-30%)
13 aortic arch aneurysm 32 frequent (33%) HP:0005113

MGI Mouse Phenotypes related to Aortic Valve Disease 1:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.43 ACTA2 BMP2 DSP FBN1 FBN2 GATA5
2 cellular MP:0005384 10.36 BMP2 DSP FBN1 FBN2 GATA5 HEY1
3 growth/size/body region MP:0005378 10.25 BMP2 DSP FBN1 FBN2 HEY1 LRP5
4 craniofacial MP:0005382 10.24 BMP2 DSP FBN1 FBN2 HEY1 LRP5
5 mortality/aging MP:0010768 10.24 BMP2 DSP FBN1 FBN2 GATA5 HEY1
6 homeostasis/metabolism MP:0005376 10.22 BMP2 FBN1 FBN2 GATA5 LRP5 NKX2-5
7 embryo MP:0005380 10.2 BMP2 DSP FBN1 HEY1 LRP5 NKX2-5
8 muscle MP:0005369 10.13 ACTA2 DSP FBN1 FBN2 GATA5 HEY1
9 digestive/alimentary MP:0005381 10.08 BMP2 DSP GATA5 NKX2-5 NOTCH1 RUNX2
10 nervous system MP:0003631 10 BMP2 DSP FBN1 HEY1 LRP5 NKX2-5
11 normal MP:0002873 9.76 BMP2 HEY1 LRP5 NKX2-5 NKX2-6 NOTCH1
12 respiratory system MP:0005388 9.5 FBN1 FBN2 NKX2-5 NKX2-6 NOTCH1 RUNX2
13 skeleton MP:0005390 9.28 BMP2 FBN1 FBN2 GATA5 LRP5 NOTCH1

Drugs & Therapeutics for Aortic Valve Disease 1

Search Clinical Trials , 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:

41
Heart, Endothelial, Bone, Smooth Muscle, Lung, Thyroid, T Cells

Publications for Aortic Valve Disease 1

Articles related to Aortic Valve Disease 1:

(show top 50) (show all 1049)
# Title Authors Year
1
The importance of genetics and genetic counselors in the evaluation of patients with bicuspid aortic valve and aortopathy. ( 30394908 )
2019
2
Vascular malformation in a bicuspid aortic valve. ( 30447516 )
2019
3
Unusual combination of mitral valve prolapse, bicuspid aortic valve, and ventricular septal defect restricted by the tricuspid septal leaflet. ( 29339711 )
2018
4
Aorto-left ventricular tunnel with anomalous origin of right coronary artery and bicuspid aortic valve: a case report. ( 29954427 )
2018
5
Unusual management of parturient patient with severe bicuspid aortic valve stenosis and congestive heart failure. ( 29942337 )
2018
6
Involvement of the Bicuspid Aortic Valve Mimicking a Mass in Takayasu Arteritis. ( 29665041 )
2018
7
A Case of Severe Coarctation of Aorta Associated With Bicuspid Aortic Valve Managed Surgically. ( 29459614 )
2018
8
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. ( 30455415 )
2018
9
A single-stage hybrid approach for the management of severely stenotic bicuspid aortic valve, ascending aortic aneurysm, and coarctation of the aorta with a literature review. ( 30279887 )
2018
10
Influence of Aortic Dilation on the Regional Aortic Stiffness of Bicuspid Aortic Valve Assessed by 4-Dimensional Flow Cardiac Magnetic Resonance: Comparison With Marfan Syndrome and Degenerative Aortic Aneurysm. ( 29778849 )
2018
11
Candidate plasma biomarkers for predicting ascending aortic aneurysm in bicuspid aortic valve disease. ( 29929532 )
2018
12
Aortic morphological variability in patients with bicuspid aortic valve and aortic coarctation. ( 30380029 )
2018
13
Aortic arch tortuosity, a novel biomarker for thoracic aortic disease, is increased in adults with bicuspid aortic valve. ( 30366853 )
2018
14
Cardiac arrest due to critical stenosis of a bicuspid aortic valve mimicking left main coronary artery occlusion on ECG. ( 30287626 )
2018
15
Mahaim fibers coexisting with coarctation of aorta and bicuspid aortic valve. ( 30421621 )
2018
16
Arterial stiffness in adult patients after coarctation of aorta repair and with bicuspid aortic valve. ( 30507296 )
2018
17
Characteristics of Adults Having Aortic Valve Replacement for Pure Aortic Regurgitation Involving a Congenitally Bicuspid Aortic Valve Unaffected by Infective Endocarditis or Aortic Dissection. ( 30343820 )
2018
18
Infective Endocarditis in Patients With Bicuspid Aortic Valve or Mitral Valve Prolapse. ( 29903346 )
2018
19
Infective endocarditis of a bicuspid aortic valve complicated by septal aneurysm and mitral-aortic intervalvular fibrosa pseudoaneurysm. ( 29512617 )
2018
20
Prevalence and Impact of Coexistent Bicuspid Aortic Valve in Hypertrophic Cardiomyopathy. ( 28377231 )
2018
21
Comparison of biomechanical properties in ascending aortic aneurysms of patients with congenital bicuspid aortic valve and Marfan syndrome. ( 30527531 )
2018
22
Transcatheter bicuspid aortic valve replacement in Turner syndrome: A unique experience of interventional cardiologist. ( 30279848 )
2018
23
TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome. ( 30281655 )
2018
24
A rare case of a patient with aortic root aneurysm, bicuspid aortic valve, and Scimitar syndrome with anomalous venous return to the right superior pulmonary vein. ( 29357959 )
2018
25
Aortic replacement for bicuspid aortic valve aortopathy: When and why? ( 30055816 )
2018
26
MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy. ( 30059548 )
2018
27
Aortic valve-mediated wall shear stress is heterogeneous and predicts regional aortic elastic fiber thinning in bicuspid aortic valve-associated aortopathy. ( 30060930 )
2018
28
Transcatheter Treatment of Bicuspid Aortic Valve Disease: Imaging and Interventional Considerations. ( 30073170 )
2018
29
Normalization of Transvalvular Flow Patterns After Bicuspid Aortic Valve Repair: Insights From Four-Dimensional Flow Cardiovascular Magnetic Resonance Imaging. ( 30076795 )
2018
30
Segmental aortic stiffness in patients with bicuspid aortic valve compared with first-degree relatives. ( 30077994 )
2018
31
Permanent pacemaker implantation after transcatheter aortic valve replacement in bicuspid aortic valve patients. ( 30079561 )
2018
32
Aortic elasticity and the influence of valve morphology in children with bicuspid aortic valve. ( 30079852 )
2018
33
Association between aortic valvular calcification and characteristics of the aortic valve in patients with bicuspid aortic valve stenosis. ( 30080100 )
2018
34
Functional Outcomes of Type I Bicuspid Aortic Valve Repair With Annular Stabilization: Subcommissural Annuloplasty Versus External Subannular Aortic Ring. ( 30086284 )
2018
35
Activation of the AKT Pathway in the Ascending Aorta With Bicuspid Aortic Valve. ( 30089758 )
2018
36
Bicuspid aortic valve aortopathy: One size fits all? ( 30093148 )
2018
37
Role of lipoprotein (a) and LPA KIV2 repeat polymorphism in bicuspid aortic valve stenosis and calcification: a proof of concept study. ( 30099661 )
2018
38
Bicuspid Aortic Valve-Associated Aortic Dilatation - What Is the Mechanism of Bicuspid Aortopathy? ( 30101811 )
2018
39
Bicuspid aortic valve with critical coarctation of the aorta: single- or two-stage operation? ( 30174883 )
2018
40
Abnormal aortic stiffness in patients with bicuspid aortic valve: phenotypic variation determined by magnetic resonance imaging. ( 30187149 )
2018
41
Supra-Annular Sizing for Transcatheter Aortic Valve Replacement Candidates With Bicuspid Aortic Valve. ( 30190072 )
2018
42
4-D flow MRI aortic 3-D hemodynamics and wall shear stress remain stable over short-term follow-up in pediatric and young adult patients with bicuspid aortic valve. ( 30203126 )
2018
43
Bicuspid aortic valve repair with "self-made" radio-opaque rigid annuloplasty ring implantation. ( 30206987 )
2018
44
Aortic stenosis exacerbates flow aberrations related to the bicuspid aortic valve fusion pattern and the aortopathy phenotype. ( 30215695 )
2018
45
Deregulation of Notch1 pathway and circulating endothelial progenitor cell (EPC) number in patients with bicuspid aortic valve with and without ascending aorta aneurysm. ( 30218064 )
2018
46
Variants in cardiac GATA genes associated with bicuspid aortic valve. ( 30229885 )
2018
47
Haemodynamic assessment of bicuspid aortic valve aortopathy: a systematic review of the current literature. ( 30239633 )
2018
48
Bicuspid aortic valve formation: Nos3 mutation leads to abnormal lineage patterning of neural crest cells and the second heart field. ( 30242109 )
2018
49
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype. ( 30255099 )
2018
50
Reconstruction of regurgitant bicuspid aortic valve (Sievers type 1, L/R, I) with raphe resection and concomitant pericardial patch-augmentation: A standardized approach. ( 30265460 )
2018

Variations for Aortic Valve Disease 1

ClinVar genetic disease variations for Aortic Valve Disease 1:

6 (show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH1 NM_017617.4(NOTCH1): c.3319C> T (p.Arg1107Ter) single nucleotide variant Pathogenic rs41309764 GRCh37 Chromosome 9, 139402690: 139402690
2 NOTCH1 NM_017617.4(NOTCH1): c.3319C> T (p.Arg1107Ter) single nucleotide variant Pathogenic rs41309764 GRCh38 Chromosome 9, 136508238: 136508238
3 NOTCH1 NM_017617.4(NOTCH1): c.4512delC (p.Cys1505Valfs) deletion Pathogenic rs41309766 GRCh38 Chromosome 9, 136505384: 136505384
4 NOTCH1 NM_017617.4(NOTCH1): c.4512delC (p.Cys1505Valfs) deletion Pathogenic rs41309766 GRCh37 Chromosome 9, 139399836: 139399836
5 NOTCH1 NM_017617.3(NOTCH1): c.2734C> T (p.Arg912Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201620358 GRCh37 Chromosome 9, 139405111: 139405111
6 NOTCH1 NM_017617.3(NOTCH1): c.2734C> T (p.Arg912Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201620358 GRCh38 Chromosome 9, 136510659: 136510659
7 NOTCH1 NM_017617.4(NOTCH1): c.2021T> C (p.Met674Thr) single nucleotide variant Uncertain significance rs587782970 GRCh37 Chromosome 9, 139409148: 139409148
8 NOTCH1 NM_017617.4(NOTCH1): c.2021T> C (p.Met674Thr) single nucleotide variant Uncertain significance rs587782970 GRCh38 Chromosome 9, 136514696: 136514696
9 COL5A1 NM_000093.4(COL5A1): c.514G> T (p.Val172Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150147262 GRCh38 Chromosome 9, 134701193: 134701193
10 COL5A1 NM_000093.4(COL5A1): c.514G> T (p.Val172Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150147262 GRCh37 Chromosome 9, 137593039: 137593039
11 GATA5 NM_080473.4(GATA5): c.1159C> T (p.Arg387Cys) single nucleotide variant Uncertain significance rs145205240 GRCh37 Chromosome 20, 61039927: 61039927
12 GATA5 NM_080473.4(GATA5): c.1159C> T (p.Arg387Cys) single nucleotide variant Uncertain significance rs145205240 GRCh38 Chromosome 20, 62464871: 62464871
13 NOTCH1 NM_017617.4(NOTCH1): c.3765C> A (p.Cys1255Ter) single nucleotide variant Pathogenic rs1057515423 GRCh37 Chromosome 9, 139401304: 139401304
14 NOTCH1 NM_017617.4(NOTCH1): c.3765C> A (p.Cys1255Ter) single nucleotide variant Pathogenic rs1057515423 GRCh38 Chromosome 9, 136506852: 136506852
15 NOTCH1 NM_017617.4(NOTCH1): c.2439C> G (p.Tyr813Ter) single nucleotide variant Pathogenic rs1057515422 GRCh37 Chromosome 9, 139407501: 139407501
16 NOTCH1 NM_017617.4(NOTCH1): c.2439C> G (p.Tyr813Ter) single nucleotide variant Pathogenic rs1057515422 GRCh38 Chromosome 9, 136513049: 136513049
17 NOTCH1 NM_017617.4(NOTCH1): c.1555+10A> G single nucleotide variant Benign rs11145767 GRCh37 Chromosome 9, 139411714: 139411714
18 NOTCH1 NM_017617.4(NOTCH1): c.1555+10A> G single nucleotide variant Benign rs11145767 GRCh38 Chromosome 9, 136517262: 136517262
19 NOTCH1 NM_017617.4(NOTCH1): c.1670-9A> G single nucleotide variant Benign rs3124603 GRCh37 Chromosome 9, 139410177: 139410177
20 NOTCH1 NM_017617.4(NOTCH1): c.1670-9A> G single nucleotide variant Benign rs3124603 GRCh38 Chromosome 9, 136515725: 136515725
21 NOTCH1 NM_017617.4(NOTCH1): c.6348C> G (p.Tyr2116Ter) single nucleotide variant Pathogenic rs1057518661 GRCh38 Chromosome 9, 136497391: 136497391
22 NOTCH1 NM_017617.4(NOTCH1): c.6348C> G (p.Tyr2116Ter) single nucleotide variant Pathogenic rs1057518661 GRCh37 Chromosome 9, 139391843: 139391843
23 NOTCH1 NM_017617.4(NOTCH1): c.852G> A (p.Pro284=) single nucleotide variant Benign rs2229975 GRCh37 Chromosome 9, 139413908: 139413908
24 NOTCH1 NM_017617.4(NOTCH1): c.852G> A (p.Pro284=) single nucleotide variant Benign rs2229975 GRCh38 Chromosome 9, 136519456: 136519456
25 NOTCH1 NM_017617.3(NOTCH1): c.6109G> T (p.Ala2037Ser) single nucleotide variant Uncertain significance rs1060502237 GRCh37 Chromosome 9, 139393422: 139393422
26 NOTCH1 NM_017617.3(NOTCH1): c.6109G> T (p.Ala2037Ser) single nucleotide variant Uncertain significance rs1060502237 GRCh38 Chromosome 9, 136498970: 136498970
27 MYH11 NM_001040113.1(MYH11): c.3581C> T (p.Thr1194Met) single nucleotide variant Uncertain significance rs552818350 GRCh37 Chromosome 16, 15826512: 15826512
28 MYH11 NM_001040113.1(MYH11): c.3581C> T (p.Thr1194Met) single nucleotide variant Uncertain significance rs552818350 GRCh38 Chromosome 16, 15732655: 15732655
29 NOTCH1 NM_017617.4(NOTCH1): c.3908G> A (p.Arg1303His) single nucleotide variant Uncertain significance rs768775024 GRCh37 Chromosome 9, 139401085: 139401085
30 NOTCH1 NM_017617.4(NOTCH1): c.3908G> A (p.Arg1303His) single nucleotide variant Uncertain significance rs768775024 GRCh38 Chromosome 9, 136506633: 136506633
31 NOTCH1 NM_017617.4(NOTCH1): c.5215G> A (p.Val1739Met) single nucleotide variant Uncertain significance rs377294245 GRCh37 Chromosome 9, 139396893: 139396893
32 NOTCH1 NM_017617.4(NOTCH1): c.5215G> A (p.Val1739Met) single nucleotide variant Uncertain significance rs377294245 GRCh38 Chromosome 9, 136502441: 136502441
33 NOTCH1 NM_017617.4(NOTCH1): c.7498C> G (p.His2500Asp) single nucleotide variant Uncertain significance rs763902589 GRCh38 Chromosome 9, 136496241: 136496241
34 NOTCH1 NM_017617.4(NOTCH1): c.7498C> G (p.His2500Asp) single nucleotide variant Uncertain significance rs763902589 GRCh37 Chromosome 9, 139390693: 139390693
35 NOTCH1 NM_017617.4(NOTCH1): c.1441+7C> T single nucleotide variant Benign rs9411208 GRCh38 Chromosome 9, 136517745: 136517745
36 NOTCH1 NM_017617.4(NOTCH1): c.1441+7C> T single nucleotide variant Benign rs9411208 GRCh37 Chromosome 9, 139412197: 139412197
37 NOTCH1 NM_017617.4(NOTCH1): c.2265T> C (p.Asn755=) single nucleotide variant Benign rs2229971 GRCh38 Chromosome 9, 136513480: 136513480
38 NOTCH1 NM_017617.4(NOTCH1): c.2265T> C (p.Asn755=) single nucleotide variant Benign rs2229971 GRCh37 Chromosome 9, 139407932: 139407932
39 NOTCH1 NM_017617.4(NOTCH1): c.5094C> T (p.Asp1698=) single nucleotide variant Benign rs10521 GRCh38 Chromosome 9, 136503255: 136503255
40 NOTCH1 NM_017617.4(NOTCH1): c.5094C> T (p.Asp1698=) single nucleotide variant Benign rs10521 GRCh37 Chromosome 9, 139397707: 139397707
41 DSG1 NM_001942.3(DSG1): c.604G> T (p.Glu202Ter) single nucleotide variant Likely pathogenic rs1057518788 GRCh38 Chromosome 18, 31331787: 31331787
42 DSG1 NM_001942.3(DSG1): c.604G> T (p.Glu202Ter) single nucleotide variant Likely pathogenic rs1057518788 GRCh37 Chromosome 18, 28911750: 28911750
43 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh38 Chromosome 6, 7575386: 7575386
44 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh37 Chromosome 6, 7575619: 7575619
45 TAB2 NM_015093.5(TAB2): c.1039C> T (p.Arg347Ter) single nucleotide variant Likely pathogenic rs1057518422 GRCh38 Chromosome 6, 149378954: 149378954
46 TAB2 NM_015093.5(TAB2): c.1039C> T (p.Arg347Ter) single nucleotide variant Likely pathogenic rs1057518422 GRCh37 Chromosome 6, 149700090: 149700090
47 NOTCH1 NM_017617.4(NOTCH1): c.312T> C (p.Asn104=) single nucleotide variant Benign rs4489420 GRCh38 Chromosome 9, 136523808: 136523808
48 NOTCH1 NM_017617.4(NOTCH1): c.312T> C (p.Asn104=) single nucleotide variant Benign rs4489420 GRCh37 Chromosome 9, 139418260: 139418260
49 NOTCH1 NM_017617.4(NOTCH1): c.6555C> T (p.Asp2185=) single nucleotide variant Benign rs2229974 GRCh38 Chromosome 9, 136497184: 136497184
50 NOTCH1 NM_017617.4(NOTCH1): c.6555C> T (p.Asp2185=) single nucleotide variant Benign rs2229974 GRCh37 Chromosome 9, 139391636: 139391636

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:

37
# 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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 ACAN ACTA2 BMP2 DSP ELN FBN1
2
Show member pathways
13.25 ACAN ACTA2 ELN FBN1 FBN2 SOS1
3
Show member pathways
12.69 ACAN ACTA2 BMP2 ELN FBN1 FBN2
4
Show member pathways
12.57 HEY1 LRP5 NOTCH1 SOS1 TGFBR2
5
Show member pathways
12.55 ACAN BMP2 ELN FBN1 FBN2
6 12.52 BMP2 HEY1 LRP5 NOTCH1 SOS1 TGFBR2
7
Show member pathways
11.98 ACAN ACTA2 ELN FBN1 FBN2 SOS1
8 11.73 RUNX2 SOS1 TGFBR2
9 11.64 BMP2 SMAD6 TGFBR2
10
Show member pathways
11.56 BMP2 RUNX2 SMAD6
11 11.42 RUNX2 SMAD6 TGFBR2
12 11.36 NKX2-5 NOTCH1 TBX20
13
Show member pathways
11.32 BMP2 ELN FBN1 FBN2
14 11.29 HEY1 NOTCH1 RUNX2
15 11.23 ACTA2 NKX2-5 SOS1 TGFBR2
16 10.86 ACAN BMP2 ELN FBN1 FBN2
17 10.68 BMP2 HEY1 NKX2-5 NOTCH1 TBX20
18 10.65 FBN1 FBN2 RUNX2 TGFBR2

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 extracellular matrix GO:0031012 9.46 ACAN ELN FBN1 FBN2
2 collagen-containing extracellular matrix GO:0062023 9.26 ACAN ELN FBN1 FBN2
3 microfibril GO:0001527 8.62 FBN1 FBN2

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 extracellular matrix organization GO:0030198 9.99 ACAN ELN FBN1 FBN2
2 skeletal system development GO:0001501 9.97 ACAN BMP2 FBN1 RUNX2
3 Notch signaling pathway GO:0007219 9.92 BMP2 HEY1 NOTCH1 TGFBR2
4 animal organ morphogenesis GO:0009887 9.92 BMP2 ELN GATA5 TGFBR2
5 BMP signaling pathway GO:0030509 9.88 BMP2 NKX2-5 RUNX2 SMAD6
6 negative regulation of osteoblast differentiation GO:0045668 9.85 LRP5 NOTCH1 SMAD6
7 positive regulation of epithelial to mesenchymal transition GO:0010718 9.85 BMP2 NOTCH1 TGFBR2
8 heart looping GO:0001947 9.84 NKX2-5 NOTCH1 TBX20 TGFBR2
9 positive regulation of osteoblast differentiation GO:0045669 9.83 BMP2 FBN2 LRP5 RUNX2
10 cellular response to BMP stimulus GO:0071773 9.82 BMP2 GATA5 RUNX2
11 positive regulation of transcription, DNA-templated GO:0045893 9.81 ACTA2 BMP2 GATA5 HEY1 LRP5 NKX2-5
12 embryonic heart tube development GO:0035050 9.75 NKX2-5 NKX2-6 TBX20
13 negative regulation of cardiac muscle hypertrophy GO:0010614 9.73 GATA5 NOTCH1
14 osteoblast development GO:0002076 9.73 LRP5 RUNX2
15 pulmonary valve morphogenesis GO:0003184 9.73 HEY1 NOTCH1 SMAD6
16 ventricular septum morphogenesis GO:0060412 9.73 HEY1 NKX2-5 NOTCH1 TGFBR2
17 pharyngeal system development GO:0060037 9.72 NKX2-5 NKX2-6
18 chondrocyte development GO:0002063 9.72 ACAN RUNX2
19 negative regulation of myotube differentiation GO:0010832 9.72 NKX2-5 NOTCH1
20 ventricular trabecula myocardium morphogenesis GO:0003222 9.72 NKX2-5 NOTCH1
21 heart trabecula formation GO:0060347 9.72 HEY1 NKX2-5
22 cardiac epithelial to mesenchymal transition GO:0060317 9.72 BMP2 HEY1 NOTCH1
23 cardiac muscle cell proliferation GO:0060038 9.71 NKX2-5 NOTCH1
24 atrial septum morphogenesis GO:0060413 9.71 NKX2-5 TBX20
25 cardiac septum morphogenesis GO:0060411 9.71 HEY1 NOTCH1
26 pathway-restricted SMAD protein phosphorylation GO:0060389 9.71 BMP2 TGFBR2
27 positive regulation of astrocyte differentiation GO:0048711 9.71 BMP2 NOTCH1
28 outflow tract septum morphogenesis GO:0003148 9.71 NKX2-5 SMAD6 TBX20 TGFBR2
29 cardiac left ventricle morphogenesis GO:0003214 9.7 NOTCH1 TGFBR2
30 ventricular cardiac muscle cell development GO:0055015 9.7 NKX2-5 NKX2-6
31 embryonic eye morphogenesis GO:0048048 9.7 FBN1 FBN2
32 Notch signaling involved in heart development GO:0061314 9.7 HEY1 NOTCH1
33 pericardium development GO:0060039 9.69 BMP2 NKX2-6
34 heart trabecula morphogenesis GO:0061384 9.69 NOTCH1 SOS1
35 atrioventricular valve morphogenesis GO:0003181 9.69 BMP2 NOTCH1 TGFBR2
36 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.68 BMP2 RUNX2
37 cardiac atrium morphogenesis GO:0003209 9.68 NOTCH1 SOS1
38 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.68 BMP2 RUNX2
39 negative regulation of SMAD protein complex assembly GO:0010991 9.67 SMAD6 TBX20
40 cardiac ventricle morphogenesis GO:0003208 9.67 HEY1 NKX2-5 NOTCH1
41 cardiac muscle tissue morphogenesis GO:0055008 9.67 BMP2 NKX2-5 NOTCH1 TBX20
42 arterial endothelial cell differentiation GO:0060842 9.66 HEY1 NOTCH1
43 endocardial cushion fusion GO:0003274 9.66 GATA5 TGFBR2
44 glomerular mesangial cell development GO:0072144 9.65 ACTA2 NOTCH1
45 sequestering of TGFbeta in extracellular matrix GO:0035583 9.65 FBN1 FBN2
46 outflow tract morphogenesis GO:0003151 9.65 ELN NKX2-5 NOTCH1 TBX20 TGFBR2
47 atrial cardiac muscle cell development GO:0055014 9.63 NKX2-5 NKX2-6
48 atrioventricular node development GO:0003162 9.63 NKX2-5 NOTCH1
49 pericardium morphogenesis GO:0003344 9.63 NOTCH1 SOS1 TBX20
50 endocardial cushion morphogenesis GO:0003203 9.62 BMP2 HEY1 NOTCH1 TBX20

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, RNA polymerase II-specific GO:0000981 9.98 GATA5 HEY1 NKX2-5 NKX2-6 RUNX2 SMAD6
2 sequence-specific DNA binding GO:0043565 9.85 GATA5 HEY1 NKX2-5 NKX2-6 NOTCH1
3 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.72 GATA5 HEY1 NKX2-5 RUNX2 TBX20
4 transcription regulatory region DNA binding GO:0044212 9.67 GATA5 NKX2-5 RUNX2 SMAD6
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.63 GATA5 NKX2-5 NOTCH1 RUNX2 SMAD6 TBX20
6 extracellular matrix structural constituent GO:0005201 9.56 ACAN ELN FBN1 FBN2
7 DNA-binding transcription factor activity GO:0003700 9.56 GATA5 HEY1 NKX2-5 NKX2-6 NOTCH1 RUNX2
8 type I transforming growth factor beta receptor binding GO:0034713 9.4 SMAD6 TGFBR2
9 extracellular matrix constituent conferring elasticity GO:0030023 8.8 ELN FBN1 FBN2

Sources for Aortic Valve Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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