AOVD2
MCID: ART101
MIFTS: 65

Aortic Valve Disease 2 (AOVD2)

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

Aliases & Classifications for Aortic Valve Disease 2

MalaCards integrated aliases for Aortic Valve Disease 2:

Name: Aortic Valve Disease 2 57 12 75 29 13 6 73
Aortic Valve Stenosis 57 12 76 53 75 29 44 15 73
Aortic Stenosis 12 53 55 15 40
Rheumatic Aortic Stenosis 12 73
Bicuspid Aortic Valve 57 75
Aovd2 57 75
Rheumatic Aortic Valve Stenosis 12
Aortic Valve Disease, Type 2 40
Valvular Aortic Stenosis 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
two unrelated patients reported (last curated september 2012)


HPO:

32
aortic valve disease 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614823
Disease Ontology 12 DOID:0080334 DOID:1712
MeSH 44 D001024
NCIt 50 C50462
SNOMED-CT 68 60573004
SNOMED-CT via HPO 69 263681008 72352009 7305005

Summaries for Aortic Valve Disease 2

NIH Rare Diseases : 53 Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. The condition can eventually lead to heart failure. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever. Treatment may include medications to ease the symptoms, but surgery to repair or replace the valve is the only way to eliminate the condition.

MalaCards based summary : Aortic Valve Disease 2, also known as aortic valve stenosis, is related to aortic valve insufficiency and aortic valve disease 1. An important gene associated with Aortic Valve Disease 2 is SMAD6 (SMAD Family Member 6), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include heart, testes and brain, and related phenotypes are bicuspid aortic valve and coarctation of aorta

Disease Ontology : 12 An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.

UniProtKB/Swiss-Prot : 75 Aortic valve disease 2: 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 Aortic stenosis (AS or AoS) is the narrowing of the exit of the left ventricle of the heart (where the... more...

Description from OMIM: 614823

Related Diseases for Aortic Valve Disease 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 348)
# Related Disease Score Top Affiliating Genes
1 aortic valve insufficiency 31.3 ACE ELN NKX2-6 NPPB
2 aortic valve disease 1 31.2 ACE BMP2 ELN GLS NKX2-6 NPPB
3 ventricular septal defect 31.0 MYH7 NKX2-6 NPPB TBX5
4 pulmonary hypertension 30.7 ACE BMP2 NPPA NPPB VWF
5 acute myocardial infarction 30.6 ACE NPPA NPPB VWF
6 myocardial infarction 30.6 ACE AGT NPPA NPPB VWF
7 congestive heart failure 30.6 ACE MYH7 NPPA NPPB
8 hypoplastic left heart syndrome 30.5 NKX2-6 NPPA NPPB SMAD6
9 coronary stenosis 30.5 ACE NPPB VWF
10 angina pectoris 30.3 ACE NPPB VWF
11 hypertensive heart disease 30.3 ACE AGT NPPB
12 atrial fibrillation 30.3 ACE AGT MYL4 NPPA NPPB TBX5
13 pulmonary edema 30.3 ACE NPPA NPPB
14 tetralogy of fallot 30.3 NKX2-6 NPPA NPPB TBX5
15 arteries, anomalies of 30.2 ACE AGT NPPB VWF
16 coronary artery anomaly 30.2 ACE NPPA NPPB
17 cardiac arrest 30.2 ACE MYH7 NPPB
18 muscle hypertrophy 30.2 AGT MYH7 NPPA
19 mitral valve insufficiency 30.1 ACE GLS NPPA NPPB PDLIM1 TBX5
20 atrial standstill 1 30.1 ACE MYH7 NPPB
21 vascular disease 30.1 ACE ELN TNFRSF11B VWF
22 carotid stenosis 30.0 ACE SPP1 TNFRSF11B
23 aortic aneurysm, familial abdominal, 1 30.0 ACE ELN TNFRSF11B
24 heart disease 30.0 ACE ELN MYH7 NKX2-6 NPPA NPPB
25 dilated cardiomyopathy 30.0 ACE AGT MYH7 NPPA NPPB SPP1
26 pulmonary hypertension, primary, 1 29.9 BMP2 NPPA NPPB
27 arteriosclerosis 29.9 ACE ELN SPP1
28 chronic kidney failure 29.8 ACE AGT NPPA NPPB SPP1 TNFRSF11B
29 mitral valve disease 29.8 ACE AGT NPPA
30 kidney disease 29.8 ACE AGT NPPA NPPB SPP1 TNFRSF11B
31 uremia 29.8 SPP1 TNFRSF11B VWF
32 diastolic heart failure 29.8 ACE AGT NPPA NPPB
33 central sleep apnea 29.8 NPPA NPPB
34 heart valve disease 29.4 ACE CNMD ELN NKX2-6 NPPA NPPB
35 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 12.5
36 congenital aortic valve stenosis 12.5
37 aortic valves stenosis of the child 12.3
38 williams-beuren syndrome 12.0
39 periventricular nodular heterotopia 1 11.4
40 loeys-dietz syndrome 4 11.4
41 congenital heart defects, multiple types, 2 11.4
42 kleefstra syndrome 11.4
43 subvalvular aortic stenosis 11.3
44 ritscher-schinzel syndrome 1 11.3
45 kashani strom utley syndrome 11.2
46 heterotaxy, visceral, 1, x-linked 11.1
47 nephronophthisis 16 11.1
48 congenital heart defects, multiple types, 4 11.1
49 nephronophthisis 20 11.1
50 congenital heart defects, multiple types, 5 11.1

Comorbidity relations with Aortic Valve Disease 2 via Phenotypic Disease Network (PDN):


Aortic Valve Disease 1 Familial Atrial Fibrillation
Heart Disease Intermediate Coronary Syndrome
Ischemic Heart Disease Rheumatic Heart Disease

Graphical network of the top 20 diseases related to Aortic Valve Disease 2:



Diseases related to Aortic Valve Disease 2

Symptoms & Phenotypes for Aortic Valve Disease 2

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
bicuspid aortic valve
stenosis of aortic valve

Cardiovascular Vascular:
calcification of the aorta
coarctation of the aorta


Clinical features from OMIM:

614823

Human phenotypes related to Aortic Valve Disease 2:

32
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 32 HP:0001647
2 coarctation of aorta 32 HP:0001680
3 calcification of the aorta 32 HP:0004963

MGI Mouse Phenotypes related to Aortic Valve Disease 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 ACE AGT BMP2 MYH7 NKX2-6 NPPA
2 homeostasis/metabolism MP:0005376 10 ACE AGT BMP2 CNMD HGD MYL4
3 hematopoietic system MP:0005397 9.96 ACE BMP2 CNMD IBSP NPPA PDLIM1
4 immune system MP:0005387 9.65 ACE AGT BMP2 CNMD HGD IBSP
5 muscle MP:0005369 9.17 AGT MYH7 NPPA SMAD6 SPP1 TBX5

Drugs & Therapeutics for Aortic Valve Disease 2

Search Clinical Trials , NIH Clinical Center for Aortic Valve Disease 2

Cochrane evidence based reviews: aortic valve stenosis

Genetic Tests for Aortic Valve Disease 2

Genetic tests related to Aortic Valve Disease 2:

# Genetic test Affiliating Genes
1 Aortic Valve Disease 2 29 SMAD6
2 Aortic Valve Stenosis 29

Anatomical Context for Aortic Valve Disease 2

MalaCards organs/tissues related to Aortic Valve Disease 2:

41
Heart, Testes, Brain, Liver, Bone, Endothelial, Kidney

Publications for Aortic Valve Disease 2

Articles related to Aortic Valve Disease 2:

(show top 50) (show all 965)
# Title Authors Year
1
Beneficial Effects of High-Density Lipoproteins on Acquired von Willebrand Syndrome in Aortic Valve Stenosis. ( 29443370 )
2018
2
Planimetry of the Orifice Area in Aortic Valve Stenosis Using Phase-Contrast Cardiac Magnetic Resonance Imaging. ( 29279525 )
2018
3
One-stage hybrid surgery for Kommerell diverticulum and aortic valve stenosis. ( 29539822 )
2018
4
A transcriptome-wide association study identifies PALMD as a susceptibility gene for calcific aortic valve stenosis. ( 29511167 )
2018
5
Comparative study of bicuspid vs. tricuspid aortic valve stenosis. ( 29029001 )
2018
6
Unusual management of parturient patient with severe bicuspid aortic valve stenosis and congestive heart failure. ( 29942337 )
2018
7
Acquired von Willebrand Syndrome Due to Aortic Valve Stenosis in a Case with Antiphospholipid Antibody. ( 29321442 )
2018
8
Impact of peripheral artery disease on early and late outcomes of transcatheter aortic valve implantation in patients with severe aortic valve stenosis. ( 29425561 )
2018
9
Impella support following emergency percutaneous balloon aortic valvuloplasty in patients with severe aortic valve stenosis and cardiogenic shock. ( 29571667 )
2018
10
Hybrid Balloon Valvuloplasty for the Treatment of Severe Congenital Aortic Valve Stenosis in Infants. ( 28964424 )
2018
11
Left Atrial Size and Function in Patients With Congenital Aortic Valve Stenosis. ( 30180956 )
2018
12
Mitral Kissing Vegetation and Acquired Aortic Valve Stenosis Secondary to Infectious Endocarditis in a Goat with Suppurative Mastitis. ( 29996509 )
2018
13
Reversible aortic valve stenosis with Löffler endocarditis. ( 29529171 )
2018
14
The predictive value of baseline pulmonary hypertension in early and long term cardiac and all-cause mortality after transcatheter aortic valve implantation for patients with severe aortic valve stenosis: A systematic review and meta-analysis. ( 29724516 )
2018
15
Severe aortic valve stenosis in a 14-year-old boy with sitosterolemia. ( 30528907 )
2018
16
Association between aortic valvular calcification and characteristics of the aortic valve in patients with bicuspid aortic valve stenosis. ( 30080100 )
2018
17
Role of lipoprotein (a) and LPA KIV2 repeat polymorphism in bicuspid aortic valve stenosis and calcification: a proof of concept study. ( 30099661 )
2018
18
Transcatheter aortic valve replacement for bicuspid aortic valve stenosis. ( 30289753 )
2018
19
Transcatheter aortic valve replacement in bicuspid aortic valve stenosis: where do we stand? ( 29332374 )
2018
20
Aortic valve stenosis and aortic diameters determine the extent of increased wall shear stress in bicuspid aortic valve disease. ( 29451963 )
2018
21
Bicuspid Aortic Valve Stenosis and the Effect of Vitamin K2 on Calcification Using 18F-Sodium Fluoride Positron Emission Tomography/Magnetic Resonance: The BASIK2 Rationale and Trial Design. ( 29561783 )
2018
22
TAVR in bicuspid aortic valve stenosis: "We are not there yet" to draw final conclusions. ( 29634859 )
2018
23
Diagnosis and Outcomes of Transcatheter Aortic Valve Implantation in Bicuspid Aortic Valve Stenosis. ( 29928309 )
2018
24
Successful transcatheter repair of severe aortic valve stenosis with a fishhook-like calcification. ( 28601933 )
2018
25
Prognostic Value of Exercise-Stress Echocardiography in Asymptomatic Patients With Aortic Valve Stenosis. ( 28734909 )
2018
26
Effect of diabetes mellitus on clinical outcomes and quality of life after transcatheter aortic valve implantation for severe aortic valve stenosis. ( 28807801 )
2018
27
Transcatheter Aortic Valve Implantation Improves Cardiac Sympathetic Nerve Activity on 123I-Metaiodobenzylguanidine Myocardial Scintigraphy in Severe Aortic Valve Stenosis. ( 28966286 )
2018
28
When is compassionate appropriate for end-stage aortic valve stenosis? ( 29072061 )
2018
29
Blood, tissue and imaging biomarkers in calcific aortic valve stenosis: past, present and future. ( 29194051 )
2018
30
Topographic Pattern of Valve Calcification: A New Determinant of Disease Severity in Aortic Valve Stenosis. ( 29248658 )
2018
31
Determinants of elevated carbohydrate antigen 125 in patients with severe symptomatic aortic valve stenosis referred for transcatheter aortic valve implantation. ( 29297708 )
2018
32
Layer-specific deformation analysis in severe aortic valve stenosis, primary mitral valve regurgitation, and healthy individuals validated against invasive hemodynamic measurements of heart function. ( 29356100 )
2018
33
Balloon Aortic Valvuloplasty in a Premature Neonate with Critical Aortic Valve Stenosis Weighing 1493 g. ( 29375228 )
2018
34
Increased serum chemerin level to predict early onset of aortic valve stenosis. ( 29387388 )
2018
35
Resolving Apparent Inconsistencies Between Area, Flow, and Gradient Measurements in Patients With Aortic Valve Stenosis and Preserved Left Ventricular Ejection Fraction. ( 29395002 )
2018
36
Mitral Effective Regurgitant Orifice Area Predicts Pulmonary Artery Pressure Level in Patients with Aortic Valve Stenosis. ( 29395625 )
2018
37
Comparison of In-hospital Outcomes Between Transcatheter and Surgical Aortic Valve Replacement in Patients with Aortic Valve Stenosis: A Retrospective Cohort Study Using Administrative Data. ( 29422279 )
2018
38
Outcomes comparison of different surgical strategies for the management of severe aortic valve stenosis: study protocol of a prospective multicentre European registry (E-AVR registry). ( 29440154 )
2018
39
Functional SNP in the 3'UTR of PON1 is Associated with the Risk of Calcific Aortic Valve Stenosis via MiR-616. ( 29462797 )
2018
40
Transcatheter aortic valve implantation: a safe and efficient procedure to treat an aortic valve stenosis before lung cancer resection. ( 29492835 )
2018
41
Quadricuspid Aortic Valve Stenosis: Expanding Our Experience in Transcatheter Aortic Valve Implantation. ( 29493518 )
2018
42
CT-derived left ventricular global strain in aortic valve stenosis patients: A comparative analysis pre and post transcatheter aortic valve implantation. ( 29496427 )
2018
43
Genome-wide analysis yields new loci associating with aortic valve stenosis. ( 29511194 )
2018
44
Progression of Functional Tricuspid Regurgitation With Aortic Valve Stenosis After Intervention. ( 29515048 )
2018
45
The von Willebrand factor ratio discriminates between more and less perioperative bleeding in patients with aortic valve stenosis. ( 29532652 )
2018
46
Pitfalls of Supra-Aortic Valve Stenosis Repair: Let Us Intensify Their Follow-Up Screening! ( 29544409 )
2018
47
Pathological significance of lipoprotein(a) in aortic valve stenosis. ( 29614432 )
2018
48
Management of Patients With Aortic Valve Stenosis. ( 29622096 )
2018
49
Coffee consumption and risk of aortic valve stenosis: A prospective study. ( 29627121 )
2018
50
Severe heart failure (NYHA Class IV) is associated with increased left ventricular mass index and short mitral deceleration time in severe aortic valve stenosis. ( 29676482 )
2018

Variations for Aortic Valve Disease 2

UniProtKB/Swiss-Prot genetic disease variations for Aortic Valve Disease 2:

75
# Symbol AA change Variation ID SNP ID
1 SMAD6 p.Pro415Leu VAR_068075 rs387907284
2 SMAD6 p.Cys484Phe VAR_068076 rs387907283

ClinVar genetic disease variations for Aortic Valve Disease 2:

6 (show top 50) (show all 95)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX5 NM_000192.3(TBX5): c.710G> A (p.Arg237Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894378 GRCh37 Chromosome 12, 114823326: 114823326
2 TBX5 NM_000192.3(TBX5): c.710G> A (p.Arg237Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894378 GRCh38 Chromosome 12, 114385521: 114385521
3 TBX5 NM_000192.3(TBX5): c.709C> T (p.Arg237Trp) single nucleotide variant Pathogenic rs104894382 GRCh37 Chromosome 12, 114823327: 114823327
4 TBX5 NM_000192.3(TBX5): c.709C> T (p.Arg237Trp) single nucleotide variant Pathogenic rs104894382 GRCh38 Chromosome 12, 114385522: 114385522
5 SMAD6 NM_005585.4(SMAD6): c.1451G> T (p.Cys484Phe) single nucleotide variant Pathogenic rs387907283 GRCh37 Chromosome 15, 67073833: 67073833
6 SMAD6 NM_005585.4(SMAD6): c.1451G> T (p.Cys484Phe) single nucleotide variant Pathogenic rs387907283 GRCh38 Chromosome 15, 66781495: 66781495
7 SMAD6 NM_005585.4(SMAD6): c.1244C> T (p.Pro415Leu) single nucleotide variant Pathogenic rs387907284 GRCh37 Chromosome 15, 67073626: 67073626
8 SMAD6 NM_005585.4(SMAD6): c.1244C> T (p.Pro415Leu) single nucleotide variant Pathogenic rs387907284 GRCh38 Chromosome 15, 66781288: 66781288
9 TBX5 NM_000192.3(TBX5): c.787G> A (p.Val263Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147405081 GRCh37 Chromosome 12, 114804165: 114804165
10 TBX5 NM_000192.3(TBX5): c.787G> A (p.Val263Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147405081 GRCh38 Chromosome 12, 114366360: 114366360
11 TBX5 NM_000192.3(TBX5): c.835C> T (p.Arg279Ter) single nucleotide variant Pathogenic rs863223788 GRCh38 Chromosome 12, 114366312: 114366312
12 TBX5 NM_000192.3(TBX5): c.835C> T (p.Arg279Ter) single nucleotide variant Pathogenic rs863223788 GRCh37 Chromosome 12, 114804117: 114804117
13 TBX5 NM_000192.3(TBX5): c.331G> T (p.Asp111Tyr) single nucleotide variant Benign/Likely benign rs77357563 GRCh37 Chromosome 12, 114837349: 114837349
14 TBX5 NM_000192.3(TBX5): c.331G> T (p.Asp111Tyr) single nucleotide variant Benign/Likely benign rs77357563 GRCh38 Chromosome 12, 114399544: 114399544
15 TBX5 NM_000192.3(TBX5): c.309C> T (p.Leu103=) single nucleotide variant Benign rs28730763 GRCh38 Chromosome 12, 114399566: 114399566
16 TBX5 NM_000192.3(TBX5): c.309C> T (p.Leu103=) single nucleotide variant Benign rs28730763 GRCh37 Chromosome 12, 114837371: 114837371
17 TBX5 NM_000192.3(TBX5): c.958delA (p.Ile320Phefs) deletion Pathogenic rs878853750 GRCh38 Chromosome 12, 114366189: 114366189
18 TBX5 NM_000192.3(TBX5): c.958delA (p.Ile320Phefs) deletion Pathogenic rs878853750 GRCh37 Chromosome 12, 114803994: 114803994
19 SMAD6 NM_005585.4(SMAD6): c.106G> A (p.Asp36Asn) single nucleotide variant Uncertain significance rs773308777 GRCh37 Chromosome 15, 66995702: 66995702
20 SMAD6 NM_005585.4(SMAD6): c.106G> A (p.Asp36Asn) single nucleotide variant Uncertain significance rs773308777 GRCh38 Chromosome 15, 66703364: 66703364
21 SMAD6 NM_005585.4(SMAD6): c.482C> T (p.Ala161Val) single nucleotide variant Uncertain significance rs748622672 GRCh38 Chromosome 15, 66703740: 66703740
22 SMAD6 NM_005585.4(SMAD6): c.482C> T (p.Ala161Val) single nucleotide variant Uncertain significance rs748622672 GRCh37 Chromosome 15, 66996078: 66996078
23 SMAD6 NM_005585.4(SMAD6): c.594C> T (p.Arg198=) single nucleotide variant Likely benign rs565225133 GRCh37 Chromosome 15, 66996190: 66996190
24 SMAD6 NM_005585.4(SMAD6): c.594C> T (p.Arg198=) single nucleotide variant Likely benign rs565225133 GRCh38 Chromosome 15, 66703852: 66703852
25 TBX5 NM_000192.3(TBX5): c.1281C> T (p.Ser427=) single nucleotide variant Benign rs6489957 GRCh37 Chromosome 12, 114793613: 114793613
26 TBX5 NM_000192.3(TBX5): c.1281C> T (p.Ser427=) single nucleotide variant Benign rs6489957 GRCh38 Chromosome 12, 114355808: 114355808
27 TBX5 NM_000192.3(TBX5): c.587C> A (p.Ser196Ter) single nucleotide variant Pathogenic rs886041247 GRCh37 Chromosome 12, 114832622: 114832622
28 TBX5 NM_000192.3(TBX5): c.587C> A (p.Ser196Ter) single nucleotide variant Pathogenic rs886041247 GRCh38 Chromosome 12, 114394817: 114394817
29 TBX5 NM_000192.3(TBX5): c.456delC (p.Val153Serfs) deletion Pathogenic rs1057520136 GRCh37 Chromosome 12, 114836432: 114836432
30 TBX5 NM_000192.3(TBX5): c.456delC (p.Val153Serfs) deletion Pathogenic rs1057520136 GRCh38 Chromosome 12, 114398627: 114398627
31 TBX5 NM_000192.3(TBX5): c.1084C> G (p.Gln362Glu) single nucleotide variant Uncertain significance rs765204502 GRCh37 Chromosome 12, 114793810: 114793810
32 TBX5 NM_000192.3(TBX5): c.1084C> G (p.Gln362Glu) single nucleotide variant Uncertain significance rs765204502 GRCh38 Chromosome 12, 114356005: 114356005
33 TBX5 NM_000192.3(TBX5): c.1162G> A (p.Glu388Lys) single nucleotide variant Uncertain significance rs139371720 GRCh38 Chromosome 12, 114355927: 114355927
34 TBX5 NM_000192.3(TBX5): c.1162G> A (p.Glu388Lys) single nucleotide variant Uncertain significance rs139371720 GRCh37 Chromosome 12, 114793732: 114793732
35 TBX5 NM_000192.3(TBX5): c.755G> T (p.Ser252Ile) single nucleotide variant Uncertain significance rs863223776 GRCh38 Chromosome 12, 114385476: 114385476
36 TBX5 NM_000192.3(TBX5): c.755G> T (p.Ser252Ile) single nucleotide variant Uncertain significance rs863223776 GRCh37 Chromosome 12, 114823281: 114823281
37 TBX5 NM_000192.3(TBX5): c.278dupG (p.Leu94Profs) duplication Pathogenic GRCh38 Chromosome 12, 114399597: 114399597
38 TBX5 NM_000192.3(TBX5): c.278dupG (p.Leu94Profs) duplication Pathogenic GRCh37 Chromosome 12, 114837402: 114837402
39 TBX5 NM_000192.3(TBX5): c.1545C> T (p.Ser515=) single nucleotide variant Benign rs186780790 GRCh37 Chromosome 12, 114793349: 114793349
40 TBX5 NM_000192.3(TBX5): c.1545C> T (p.Ser515=) single nucleotide variant Benign rs186780790 GRCh38 Chromosome 12, 114355544: 114355544
41 TBX5 NM_000192.3(TBX5): c.443G> A (p.Trp148Ter) single nucleotide variant Pathogenic rs1060503154 GRCh37 Chromosome 12, 114836445: 114836445
42 TBX5 NM_000192.3(TBX5): c.443G> A (p.Trp148Ter) single nucleotide variant Pathogenic rs1060503154 GRCh38 Chromosome 12, 114398640: 114398640
43 SMAD6 NM_005585.4(SMAD6): c.35G> A (p.Arg12Gln) single nucleotide variant Uncertain significance rs946785791 GRCh38 Chromosome 15, 66703293: 66703293
44 SMAD6 NM_005585.4(SMAD6): c.35G> A (p.Arg12Gln) single nucleotide variant Uncertain significance rs946785791 GRCh37 Chromosome 15, 66995631: 66995631
45 SMAD6 NM_005585.4(SMAD6): c.92_100delGTGGCGGCG (p.Gly31_Gly33del) deletion Uncertain significance rs1060500750 GRCh38 Chromosome 15, 66703350: 66703358
46 SMAD6 NM_005585.4(SMAD6): c.92_100delGTGGCGGCG (p.Gly31_Gly33del) deletion Uncertain significance rs1060500750 GRCh37 Chromosome 15, 66995688: 66995696
47 SMAD6 NM_005585.4(SMAD6): c.465_471dupCGGGCGG (p.Ser158Argfs) duplication Uncertain significance rs958818801 GRCh38 Chromosome 15, 66703723: 66703729
48 SMAD6 NM_005585.4(SMAD6): c.465_471dupCGGGCGG (p.Ser158Argfs) duplication Uncertain significance rs958818801 GRCh37 Chromosome 15, 66996061: 66996067
49 SMAD6 NM_005585.4(SMAD6): c.1260C> T (p.Pro420=) single nucleotide variant Likely benign rs371930288 GRCh38 Chromosome 15, 66781304: 66781304
50 SMAD6 NM_005585.4(SMAD6): c.1260C> T (p.Pro420=) single nucleotide variant Likely benign rs371930288 GRCh37 Chromosome 15, 67073642: 67073642

Expression for Aortic Valve Disease 2

Search GEO for disease gene expression data for Aortic Valve Disease 2.

Pathways for Aortic Valve Disease 2

GO Terms for Aortic Valve Disease 2

Cellular components related to Aortic Valve Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.61 ACE AGT BMP2 IBSP NPPA NPPB
2 extracellular matrix GO:0031012 9.46 ELN IBSP TNFRSF11B VWF
3 extracellular region GO:0005576 9.4 ACE AGT BMP2 CNMD ELN IBSP

Biological processes related to Aortic Valve Disease 2 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell growth GO:0030308 9.78 AGT NPPA NPPB
2 animal organ morphogenesis GO:0009887 9.77 BMP2 ELN TNFSF11
3 negative regulation of angiogenesis GO:0016525 9.76 AGT CNMD NPPB
4 osteoblast differentiation GO:0001649 9.72 BMP2 IBSP SPP1
5 extracellular matrix organization GO:0030198 9.72 ELN IBSP SPP1 TNFRSF11B VWF
6 regulation of the force of heart contraction GO:0002026 9.6 MYH7 MYL4
7 cell-substrate adhesion GO:0031589 9.58 SMAD6 VWF
8 positive regulation of bone resorption GO:0045780 9.57 SPP1 TNFSF11
9 cell growth involved in cardiac muscle cell development GO:0061049 9.56 AGT NPPA
10 cardiac muscle hypertrophy in response to stress GO:0014898 9.54 MYH7 NPPA
11 positive regulation of renal sodium excretion GO:0035815 9.52 AGT NPPB
12 regulation of blood vessel diameter GO:0097746 9.51 ACE NPPB
13 atrioventricular valve morphogenesis GO:0003181 9.49 BMP2 TBX5
14 cGMP biosynthetic process GO:0006182 9.48 NPPA NPPB
15 receptor guanylyl cyclase signaling pathway GO:0007168 9.46 NPPA NPPB
16 regulation of blood pressure GO:0008217 9.46 ACE AGT NPPA NPPB
17 proteoglycan metabolic process GO:0006029 9.43 BMP2 CNMD
18 regulation of blood vessel size GO:0050880 9.43 AGT NPPA NPPB
19 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.4 ACE AGT
20 regulation of renal output by angiotensin GO:0002019 9.37 ACE AGT
21 regulation of signaling receptor activity GO:0010469 9.17 AGT BMP2 NPPA NPPB SPP1 TNFRSF11B
22 pericardium development GO:0060039 9.13 BMP2 NKX2-6 TBX5

Molecular functions related to Aortic Valve Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.33 AGT NPPA NPPB
2 cytokine activity GO:0005125 9.26 BMP2 SPP1 TNFRSF11B TNFSF11
3 hormone receptor binding GO:0051427 8.62 NPPA NPPB

Sources for Aortic Valve Disease 2

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
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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