MCID: ART115
MIFTS: 55

Aortic Valve Disease 1

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

Aliases & Classifications for Aortic Valve Disease 1

MalaCards integrated aliases for Aortic Valve Disease 1:

Name: Aortic Valve Disease 1 54 24 71 42 69
Aortic Valve Disease 12 71 13 52 14
Bicuspid Aortic Valve 24 71
Aortic Valve Disorder 29 69
Aovd1 24 71
Abnormality of the Aortic Valve 29
Aortic Valve, Calcification of 24
Calcification of Aortic Valve 71
Aortic Valve Calcification 69
Aortic Stenosis, Calcific 24
Calcific Aortic Stenosis 71
Aortic Valve Disease 2 69
Bav 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant form


HPO:

32
aortic valve disease 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 109730
Disease Ontology 12 DOID:62
ICD9CM 35 395 424.1
NCIt 47 C78650
SNOMED-CT 64 194988001 8722008
ICD10 33 I39.1
SNOMED-CT via HPO 65 263681008 72352009 60573004
UMLS 69 C1260873

Summaries for Aortic Valve Disease 1

OMIM : 54
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 aortic valve disease, is related to aortic valve disease 2 and familial bicuspid aortic valve, and has symptoms including bicuspid aortic valve and aortic valve stenosis. An important gene associated with Aortic Valve Disease 1 is NOTCH1 (Notch 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and Angiogenesis (CST). The drugs Desflurane and Isoflurane have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are cardiovascular system and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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 : 72 The aortic valve is a valve in the human heart between the left ventricle and the aorta. It is one of... 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 126)
id Related Disease Score Top Affiliating Genes
1 aortic valve disease 2 12.4
2 familial bicuspid aortic valve 12.3
3 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 12.2
4 aortic valve insufficiency 11.2
5 elastoma 11.0 ELN FBN1
6 early-onset generalized limb-onset dystonia 11.0 ELN FBN1
7 left ventricular outflow tract obstruction 11.0
8 anal margin squamous cell carcinoma 10.9 ELN VWF
9 familial or sporadic hemiplegic migraine 10.9 ELN FBN1
10 argyria 10.9 ACE ELN
11 12q15q21.1 microdeletion syndrome 10.9 ACE TGFB1
12 hypothyroidism due to iodide transport defect 10.9 ACE REN
13 chronic granulomatous disease 10.9 NPPB REN
14 mucopolysaccharidosis is 10.9
15 primary hyperoxaluria 10.9 ACE REN
16 aortopulmonary window 10.9 ACE FBN1 NOTCH1
17 trophoblastic neoplasm 10.8 FBN1 NKX2-6 NOTCH1
18 listeriosis 10.8 ACE REN VWF
19 chronic diarrhea due to guanylate cyclase 2c overactivity 10.8 ACE CRP VWF
20 artery disease 10.8 FBN1 NKX2-6 NPPB
21 macrotrabecular hepatoblastoma 10.8 NOTCH1 SPP1
22 islet cell tumor 10.8 ACE CRP NPPB
23 placental abruption 10.8 ACE CRP NPPB
24 homologous wasting disease 10.8 CRP ELN FBN1
25 atrial septal defect 7, with or without av conduction defects 10.8 ACE REN
26 broad ligament malignant neoplasm 10.8 ACE NPPB REN
27 mody, type ii 10.8 ACE REN
28 ischemic heart disease 10.8 ACE CRP VWF
29 iron metabolism disease 10.8 ACE CRP
30 disseminated chorioretinitis 10.8 CRP NOTCH1
31 chromosome 15q24 deletion syndrome 10.8 ELN GTF2IRD1 NKX2-6
32 hemoglobin lepore-beta-thalassemia syndrome 10.8 ELN FBN1
33 physical disorder 10.8 BMP2 RUNX2 SPP1
34 prostate malignant phyllodes tumor 10.8 ACE CRP NPPB
35 congenital bilateral megacalycosis 10.7 ACE BMP2 REN
36 synovial chondromatosis 10.7 ACE NPPB POMC
37 cystinosis 10.7 ACE CRP REN
38 monosomy 13q34 10.7 POMC REN
39 autoimmune disease of skin and connective tissue 10.7 ACE DSP TNNI3
40 cutis laxa 10.7 FBN1 POMC
41 intra-abdominal lymph node mast cell malignancy 10.7 ACE CRP SPP1
42 hypodontia of incisors and premolars 10.7 ACE POMC REN
43 parasitic helminthiasis infectious disease 10.7 ACE CRP TNNI3
44 urinary bladder posterior wall cancer 10.7 CRP NPPB REN
45 renal fibrosis 10.7 ACE TNNI3 VWF
46 cutis laxa, autosomal dominant 10.7 ELN FBN1 PDLIM1
47 screw worm infectious disease 10.7 NOTCH1 SPP1 TGFB1
48 angina pectoris 10.7 ACE CRP VWF
49 lacrimal system cancer 10.7 ACE CRP VWF
50 fibular aplasia ectrodactyly 10.7 ACE REN TGFB1

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:

54

Misc:
systolic ejection click
male preponderance

Cardiac:
bicuspid aortic valve


Clinical features from OMIM:

109730

Human phenotypes related to Aortic Valve Disease 1:

32
id Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 32 HP:0001647
2 aortic valve stenosis 32 HP:0001650

MGI Mouse Phenotypes related to Aortic Valve Disease 1:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.45 ACE BMP2 CRP DSP FBN1 GTF2IRD1
2 homeostasis/metabolism MP:0005376 10.35 VWF GTF2IRD1 HCK NKX2-6 NOTCH1 PDLIM1
3 growth/size/body region MP:0005378 10.32 ACE BMP2 DSP FBN1 GTF2IRD1 HCK
4 cellular MP:0005384 10.28 VWF BMP2 DSP FBN1 GTF2IRD1 NKX2-6
5 hematopoietic system MP:0005397 10.27 RUNX2 SPP1 TGFB1 VWF ACE BMP2
6 mortality/aging MP:0010768 10.27 BMP2 DSP FBN1 GLS GTF2IRD1 HCK
7 immune system MP:0005387 10.23 FBN1 HCK NOTCH1 POMC REN RUNX2
8 craniofacial MP:0005382 10.13 BMP2 DSP FBN1 GTF2IRD1 NOTCH1 RUNX2
9 integument MP:0010771 10.03 DSP FBN1 GTF2IRD1 NOTCH1 POMC RUNX2
10 muscle MP:0005369 9.97 DSP FBN1 GTF2IRD1 NOTCH1 REN RUNX2
11 liver/biliary system MP:0005370 9.95 ACE GTF2IRD1 NOTCH1 POMC RUNX2 SPP1
12 nervous system MP:0003631 9.9 BMP2 DSP FBN1 GTF2IRD1 NOTCH1 POMC
13 neoplasm MP:0002006 9.8 GTF2IRD1 HCK NOTCH1 POMC SPP1 TGFB1
14 renal/urinary system MP:0005367 9.5 ACE FBN1 NOTCH1 POMC REN SPP1
15 respiratory system MP:0005388 9.32 FBN1 GLS GTF2IRD1 HCK NKX2-6 NOTCH1

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 187)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Desflurane Approved Phase 4 57041-67-5 42113
2
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Captopril Approved Phase 4 62571-86-2 44093
5
Trandolapril Approved Phase 4 87679-37-6 5484727
6
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 5460373 44475014
7
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-78-2 2244
8
Cefazolin Approved Phase 4 25953-19-9 656510 33255
9
Vancomycin Approved Phase 4 1404-90-6 441141 14969
10
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
11
Cabergoline Approved Phase 4 81409-90-7 54746
12
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
13
Warfarin Approved Phase 4,Phase 2,Phase 1 81-81-2 6691 54678486
14
Ticagrelor Approved Phase 4,Phase 3 274693-27-5 9871419
15
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
16
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
17
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
18
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
19
Fluvastatin Approved Phase 4 93957-54-1 1548972
20
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
21
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Early Phase 1 59-30-3 6037
22
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3 120202-66-6, 113665-84-2 60606
23
Glutamic Acid Approved, Nutraceutical Phase 4 56-86-0 33032
24 Simendan Investigational Phase 4 131741-08-7
25 Anesthetics Phase 4
26 Anesthetics, General Phase 4
27 Anesthetics, Inhalation Phase 4
28 Anesthetics, Intravenous Phase 4
29 Central Nervous System Depressants Phase 4
30 Hypnotics and Sedatives Phase 4
31 U 78517F Phase 4
32 Angiotensin-Converting Enzyme Inhibitors Phase 4
33 Antihypertensive Agents Phase 4,Phase 3
34 HIV Protease Inhibitors Phase 4,Phase 3
35
protease inhibitors Phase 4,Phase 3
36 Anti-Arrhythmia Agents Phase 4,Phase 3
37 Cardioplegic Solutions Phase 4,Phase 1,Phase 2
38 Hematinics Phase 4,Phase 3
39 Micronutrients Phase 4,Phase 3,Phase 1,Early Phase 1
40 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1,Phase 2
41 Phosphodiesterase Inhibitors Phase 4
42 Protective Agents Phase 4
43 Trace Elements Phase 4,Phase 3,Phase 1,Early Phase 1
44 Vasodilator Agents Phase 4,Early Phase 1
45 Vitamin B 12 Phase 4
46 Vitamin B Complex Phase 4,Early Phase 1
47 Vitamins Phase 4,Phase 3,Phase 1,Early Phase 1
48 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
49 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
50 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 173)

id Name Status NCT ID Phase Drugs
1 Desflurane-induced Myocardial Protection Unknown status NCT02019797 Phase 4 Desflurane
2 Acute Haemodynamic Effects of Treatment With Angiotensin Converting Enzyme (ACE)-Inhibitors in Patients With Symptomatic Aortic Stenosis Unknown status NCT00252317 Phase 4 Captopril and Trandolapril;Captopril Test Dose and Trandolapril
3 The Pacing vs No Pacing Study - PNP Study Unknown status NCT02498639 Phase 4
4 Intracoronary Administration of Levosimendan in Cardiac Surgery Patients Unknown status NCT01500785 Phase 4 levosimendan;Vitamin B 12
5 Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients Completed NCT01619982 Phase 4 Cefazolin pre-operative prophylaxis;Vancomycin hydrochloride
6 Aspirin Versus Aspirin + ClopidogRel Following Transcatheter Aortic Valve Implantation: the ARTE Trial Completed NCT01559298 Phase 4 Aspirin (80 mg/d) + clopidogrel (75 mg/d);Aspirin
7 Cardiac Valve Complications in Prolactinomas Treated With Cabergoline Completed NCT00460616 Phase 4 Cabergoline
8 Glutamate and Diastolic Function in Patients Undergoing Aortic Valve Repair Completed NCT01144039 Phase 4 LG-group;HG-group;Placebo-group
9 Frailty and Cognitive Function Assessment of TAVI Patients Recruiting NCT02650388 Phase 4
10 Preventing contrAst Induced Nephropathy After TranscathEter Aortic Valve Replacement Recruiting NCT03121053 Phase 4 sodium bicarbonate;hypotone saline
11 Antiplatelet Therapy for Patients Undergoing Transcatheter Aortic Valve Implantation Recruiting NCT02247128 Phase 4 Aspirin + clopidogrel;Aspirin monotherapy;OAC + clopicogrel;OAC monotherapy
12 Assessment of the Prognosis of Persistent Left Bundle Branch Block (LBBB)After Transcatheter Aortic Valve Implantation (TAVI ) by an Electrophysiological and Remote Monitoring Risk-adapted Algorithm Recruiting NCT02482844 Phase 4
13 TAVI Protocol - Paravertebral Block Study Recruiting NCT01404975 Phase 4
14 The Effect of the Forced Diuresis With Matched Hydration in Reducing Acute Kidney Injury During TAVI Recruiting NCT01866800 Phase 4 Conventional Treatment
15 Protamine Sulfate During Transcatheter Aortic Valve Implantation Recruiting NCT02974660 Phase 4 Protamine sulfate;0.9% NaCl
16 Aortic Stenosis and PhosphodiEsterase Type 5 iNhibition (ASPEN): A Pilot Study Recruiting NCT01275339 Phase 4 Tadalafil;Placebo
17 Randomized Study to Evaluate the Efficacy of Fluvastatin on Inflammatory Markers in Patients With Aortic Stenosis. Suspended NCT00404287 Phase 4 Fluvastatin
18 Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot Study Terminated NCT01272388 Phase 4 Tadalafil;Placebo
19 TRANscatheter or SurgIcal Aortic Valve ReplacemenT in All-Comers With Severe Aortic Valve Stenosis Withdrawn NCT02838199 Phase 4
20 The Potential of Candesartan to Retard the Progression of Aortic Stenosis Unknown status NCT00699452 Phase 3 candesartan;placebo
21 Erythropoietin + Iron Therapy for Anemic Patients Undergoing Aortic Valve Replacement Unknown status NCT02390102 Phase 3 Erythropoietin;Placebo
22 Beta Blockers and Angiotensin Receptor Blockers in Bicuspid Aortic Valve Disease Aortopathy (BAV Study) Completed NCT01202721 Phase 3 Atenolol;Telmisartan
23 Vitamin K Supplement for Inhibition of the Progress in Aortic Valve Calcification Completed NCT00785109 Phase 3
24 Conservative Aortic Valve Surgery for Aortic Insufficiency and Aneurysms of the Aortic Root. CAVIAAR Completed NCT00478803 Phase 3
25 Effects of Rosuvastatin on Aortic Stenosis Progression Completed NCT00800800 Phase 3 Rosuvastatin;Placebo
26 Evaluating the Effectiveness of Atorvastatin on the Progression of Aortic Dilatation and Valvular Degeneration in Patients With Bicuspid Aortic Valve Recruiting NCT02679261 Phase 3 Atorvastatin;Placebo
27 Vitamin K1 to Slow Progression of Vascular Calcification in HD Patients Recruiting NCT01742273 Phase 3 Vitamin K1
28 A Trial to Assess the Safety and Efficacy of Prophylactic TicagrelOr With Acetylsalicylic Acid Versus CLopidogrel With Acetylsalicylic Acid in the Development of Cerebrovascular EMbolic Events During TAVI Recruiting NCT02989558 Phase 3 Ticagrelor plus ASA;Clopidogrel plus ASA
29 Comparison of a Rivaroxaban-based Strategy With an Antiplatelet-based Strategy Following Successful TAVR for the Prevention of Leaflet Thickening and Reduced Leaflet Motion as Evaluated by Four-dimensional, Volume-rendered Computed Tomography (4DCT) Recruiting NCT02833948 Phase 3 Acetylicsalicylic acid;Clopidogrel;Rivaroxaban
30 The preDIlatation in tRanscathEter aortiC Valve implanTation Trial Recruiting NCT02448927 Phase 3
31 Effects of High Dose Atorvastatin in Patients With Surgical Aortic Stenosis Recruiting NCT00811330 Phase 3 Atorvastatin 80 mg
32 Anti-Thrombotic Strategy After Trans-Aortic Valve Implantation for Aortic Stenosis Recruiting NCT02664649 Phase 3 Apixaban;Standard of care
33 The Medtronic CoreValve™ Evolut R™ CE Mark Clinical Study Active, not recruiting NCT01876420 Phase 3
34 The PARTNER II Trial: Placement of AoRTic TraNscathetER Valves Active, not recruiting NCT01314313 Phase 3
35 Neuromonitoring in Patients During Aortic Valve Replacement Enrolling by invitation NCT02697786 Phase 3
36 Study Investigating the Effect of Drugs Used to Treat Osteoporosis on the Progression of Calcific Aortic Stenosis. Unknown status NCT02132026 Phase 2 Denosumab;Alendronic Acid;Denosumab Placebo;Alendronic Acid Placebo
37 Cardiac Operation Under Totally Endoscope and Cardiopulmonary Bypass (CPB) Unknown status NCT00921596 Phase 1, Phase 2
38 Antiplatelet Effect of Low Doses of Aspirin Taken Every 12 Hours in Patients Undergoing Coronary Artery Bypass Graft and/or Aortic Valve Surgery Unknown status NCT01466452 Phase 2 Aspirin;Aspirin;Aspirin
39 Prolongation of the Interval Between Monitoring of Warfarin in Stable Patients Completed NCT00356759 Phase 2 Prolongation of the interval between monitoring of warfarin
40 A Pilot Study to Evaluate the Safety and Efficacy of the Apica Access, Stabilization and Closure (ASC™) Device Completed NCT01721642 Phase 1, Phase 2
41 NHLBI DIR LAMPOON Study: Intentional Laceration of the Anterior Mitral Leaflet to Prevent Left Ventricular Outflow Tract Obstruction During Transcatheter Mitral Valve Implantation Enrolling by invitation NCT03015194 Phase 2
42 CO as a Stimulant for Mitochondrial Biogenesis in Human Cardiac Muscle Terminated NCT01727167 Phase 1, Phase 2 200ppm CO for one hour
43 Transcranial Doppler (TCD) Assessment During Early Anti-thrombotic Therapy After Bioprosthetic Aortic Valve Replacement Completed NCT00465218 Phase 1
44 Transcaval Access for Transcatheter Aortic Valve Replacement in People With No Good Options for Aortic Access Completed NCT02280824 Phase 1
45 Safety of Ataciguat in Patients With Moderate Calcific Aortic Valve Stenosis Completed NCT02049203 Phase 1 Ataciguat;Placebo
46 The Aortic Valve DECalcification (AVADEC) Trial Not yet recruiting NCT03243890 Phase 1
47 A Clinical Evaluation of the HYDRA Self Expanding Transcatheter Aortic Valve Not yet recruiting NCT02434263 Phase 1
48 Transapical Implantation of Ventor Embracer™ Valve in Patients With Severe Aortic Valve Disease Unknown status NCT00677638
49 Risk Factors Associated With Calcification of the Aortic Valve Unknown status NCT00375336
50 Long-Term Follow-up After the Autograft Aortic Valve Procedure (Ross Operation) Unknown status NCT00708409

Search NIH Clinical Center for Aortic Valve Disease 1

Cochrane evidence based reviews: aortic valve disease 1

Genetic Tests for Aortic Valve Disease 1

Genetic tests related to Aortic Valve Disease 1:

id Genetic test Affiliating Genes
1 Aortic Valve Disorder 29
2 Abnormality of the Aortic Valve 29
3 Aortic Valve Disease 1 24 NOTCH1

Anatomical Context for Aortic Valve Disease 1

MalaCards organs/tissues related to Aortic Valve Disease 1:

39
Heart, Lung, Testes, Bone, Kidney, Endothelial

Publications for Aortic Valve Disease 1

Variations for Aortic Valve Disease 1

ClinVar genetic disease variations for Aortic Valve Disease 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH1 NM_017617.4(NOTCH1): c.3319C> T (p.Arg1107Ter) single nucleotide variant Pathogenic rs41309764 GRCh38 Chromosome 9, 136508238: 136508238
2 NOTCH1 NM_017617.4(NOTCH1): c.4512delC (p.Cys1505Valfs) deletion Pathogenic rs41309766 GRCh38 Chromosome 9, 136505384: 136505384
3 NOTCH1 NM_017617.4(NOTCH1): c.2380delG (p.Glu794Serfs) deletion Likely pathogenic rs863224901 GRCh37 Chromosome 9, 139407560: 139407560
4 NOTCH1 NM_017617.4(NOTCH1): c.3765C> A (p.Cys1255Ter) single nucleotide variant Pathogenic rs1057515423 GRCh37 Chromosome 9, 139401304: 139401304
5 NOTCH1 NM_017617.4(NOTCH1): c.2439C> G (p.Tyr813Ter) single nucleotide variant Pathogenic rs1057515422 GRCh37 Chromosome 9, 139407501: 139407501
6 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh37 Chromosome 6, 7575619: 7575619
7 NOTCH1 NM_017617.4(NOTCH1): c.6348C> G (p.Tyr2116Ter) single nucleotide variant Pathogenic rs1057518661 GRCh38 Chromosome 9, 136497391: 136497391

Expression for Aortic Valve Disease 1

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

Pathways for Aortic Valve Disease 1

GO Terms for Aortic Valve Disease 1

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.61 ACE BMP2 CRP FBN1 NPPB POMC
2 extracellular matrix GO:0031012 9.46 DSP FBN1 TGFB1 VWF
3 extracellular region GO:0005576 9.4 ACE BMP2 CRP ELN FBN1 NOTCH1

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

(show all 29)
id Name GO ID Score Top Affiliating Genes
1 response to organic substance GO:0010033 9.81 REN SPP1 TGFB1
2 extracellular matrix organization GO:0030198 9.81 ELN FBN1 SPP1 VWF
3 BMP signaling pathway GO:0030509 9.79 BMP2 RUNX2 TGFB1
4 extracellular matrix disassembly GO:0022617 9.74 ELN FBN1 SPP1
5 response to hypoxia GO:0001666 9.65 BMP2 PDLIM1 TGFB1
6 endocardial cushion morphogenesis GO:0003203 9.64 BMP2 NOTCH1
7 heart contraction GO:0060047 9.64 ACE TNNI3
8 beta-amyloid metabolic process GO:0050435 9.63 ACE REN
9 regulation of blood vessel diameter GO:0097746 9.62 ACE NPPB
10 pathway-restricted SMAD protein phosphorylation GO:0060389 9.61 BMP2 TGFB1
11 positive regulation of epithelial to mesenchymal transition GO:0010718 9.61 BMP2 NOTCH1 TGFB1
12 cardiac epithelial to mesenchymal transition GO:0060317 9.6 BMP2 NOTCH1
13 angiotensin maturation GO:0002003 9.59 ACE REN
14 cardiac muscle tissue morphogenesis GO:0055008 9.58 BMP2 NOTCH1
15 positive regulation of superoxide anion generation GO:0032930 9.58 CRP TGFB1
16 chondrocyte differentiation GO:0002062 9.58 BMP2 RUNX2 TGFB1
17 atrioventricular valve morphogenesis GO:0003181 9.56 BMP2 NOTCH1
18 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.55 BMP2 RUNX2
19 inflammatory response GO:0006954 9.55 BMP2 CRP HCK SPP1 TGFB1
20 positive regulation of astrocyte differentiation GO:0048711 9.54 BMP2 NOTCH1
21 pericardium development GO:0060039 9.52 BMP2 NKX2-6
22 epithelial to mesenchymal transition GO:0001837 9.5 BMP2 NOTCH1 TGFB1
23 cellular response to insulin-like growth factor stimulus GO:1990314 9.49 FBN1 TGFB1
24 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.46 BMP2 RUNX2
25 positive regulation of odontogenesis GO:0042482 9.37 BMP2 TGFB1
26 mononuclear cell proliferation GO:0032943 9.26 ACE TGFB1
27 regulation of blood pressure GO:0008217 9.26 ACE NPPB POMC REN
28 heart development GO:0007507 9.1 BMP2 FBN1 NKX2-6 NOTCH1 TGFB1 TNNI3
29 positive regulation of cell proliferation GO:0008284 10.02 HCK NKX2-6 NOTCH1 RUNX2 TGFB1

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

id Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.02 BMP2 HCK NPPB POMC REN

Sources for Aortic Valve Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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