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MCID: ART101
MIFTS: 73

Aortic Valve Disease 2

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Aortic Valve Disease 2

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MalaCards integrated aliases for Aortic Valve Disease 2:

Name: Aortic Valve Disease 2 57 75 29 13 6 73
Aortic Valve Stenosis 57 12 76 53 75 29 44 15 73
Bicuspid Aortic Valve 57 76 75 37 29 55 6
Aortic Stenosis 12 53 55 40
Congenital Aortic Valve Stenosis 12 59
Rheumatic Aortic Stenosis 12 73
Aovd2 57 75
Rheumatic Aortic Valve Stenosis 12
Aortic Valve Disease, Type 2 40
Valvular Aortic Stenosis 53
As 12

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


Sources

Summaries for Aortic Valve Disease 2

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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 familial bicuspid aortic valve and supravalvular aortic stenosis. An important gene associated with Aortic Valve Disease 2 is SMAD6 (SMAD Family Member 6), and among its related pathways/superpathways are Notch signaling pathway and TGF-beta signaling pathway. The drugs Captopril and Trandolapril have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and testes, and related phenotypes are sudden cardiac death and angina pectoris

Disease Ontology : 12 An aortic valve disease that has physical basis in incomplete opening of the aortic valve.

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
Sources

Related Diseases for Aortic Valve Disease 2

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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 6542)
# Related Disease Score Top Affiliating Genes
1 familial bicuspid aortic valve 35.2 DSP NOTCH1 SMAD6
2 supravalvular aortic stenosis 32.2 ELN FBN1 PDLIM1
3 aortic aneurysm, familial abdominal, 1 32.1 ELN FBN1 TNFRSF11B
4 pseudoxanthoma elasticum 32.0 ELN FBN1 SPP1
5 atrial standstill 1 31.8 ACE DSP MYH7 NPPB
6 connective tissue disease 31.8 ACE ELN FBN1 SPP1
7 ebstein anomaly 31.8 MYH7 NKX2-6 NPPB
8 chronic actinic dermatitis 31.8 ELN FBN1
9 collagen disease 31.8 ELN FBN1 VWF
10 hypoaldosteronism 31.7 ACE NPPA
11 hypoplastic left heart syndrome 31.7 NKX2-6 NOTCH1 NPPA NPPB SMAD6
12 plica syndrome 31.7 ELN VWF
13 idiopathic edema 31.7 ACE NPPA NPPB
14 uremia 31.7 SPP1 TNFRSF11B VWF
15 multicentric reticulohistiocytosis 31.6 TNFRSF11B TNFSF11
16 orthostatic intolerance 31.6 ELN FBN1 PDLIM1
17 hypertensive heart disease 31.6 ACE AGT NPPB
18 osteonecrosis 31.5 BMP2 TNFRSF11B TNFSF11
19 congestive heart failure 31.5 ACE MYH7 NPPA NPPB
20 pulmonary hypertension 31.5 ACE BMP2 NPPA NPPB VWF
21 aortic coarctation 31.4 ACE AGT FBN1 NOTCH1
22 kidney disease 31.4 ACE AGT NPPA NPPB TNFRSF11B
23 chronic kidney failure 31.4 ACE AGT NPPA NPPB TNFRSF11B
24 vascular disease 31.3 ACE ELN TNFRSF11B VWF
25 pulmonary valve insufficiency 31.3 NKX2-6 NPPB
26 myocardial infarction 31.2 ACE AGT NPPA NPPB VWF
27 otosclerosis 31.2 ACE AGT BMP2 TNFRSF11B
28 hypertension, essential 31.2 ACE AGT NPPA NPPB VWF
29 tympanosclerosis 31.2 BMP2 SPP1
30 coronary artery anomaly 31.0 ACE AGT NPPA NPPB TNFRSF11B VWF
31 paget disease of bone 5, juvenile-onset 31.0 TNFRSF11B TNFSF11
32 intrinsic cardiomyopathy 30.9 ACE DSP MYH7
33 aortic valve insufficiency 30.9 ACE ELN FBN1 NKX2-6 NOTCH1 NPPB
34 aortic aneurysm 30.9 ELN FBN1 NOTCH1
35 dilated cardiomyopathy 30.9 ACE AGT DSP MYH7 NPPA NPPB
36 atrial fibrillation 30.8 ACE AGT MYL4 NPPA NPPB TBX5
37 arteries, anomalies of 30.8 ACE AGT NPPB VWF
38 acute myocardial infarction 30.7 ACE NPPA NPPB VWF
39 malignant hypertension 30.6 ACE AGT NPPA
40 arthropathy 30.4 HGD TNFRSF11B TNFSF11
41 aortic valve disease 1 30.3 ACE BMP2 ELN FBN1 NKX2-6 NOTCH1
42 diastolic heart failure 30.3 ACE AGT NPPB
43 ventricular septal defect 30.3 MYH7 NKX2-6 NPPB TBX5
44 carotid stenosis 30.2 ACE SPP1 TNFRSF11B
45 syndrome of inappropriate antidiuretic hormone 30.2 ACE NPPA NPPB
46 oligohydramnios 30.2 ACE AGT NPPB
47 mitral valve disease 30.2 ACE AGT FBN1 NPPA
48 aortic disease 30.2 ELN FBN1 NOTCH1
49 root resorption 30.1 SPP1 TNFRSF11B TNFSF11
50 muscle hypertrophy 29.9 AGT MYH7 NPPA

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
Sources

Symptoms & Phenotypes for Aortic Valve Disease 2

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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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sudden cardiac death 59 32 very rare (1%) Very rare (<4-1%) HP:0001645
2 angina pectoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0001681
3 left ventricular hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001712
4 endocarditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100584
5 reduced ejection fraction 59 32 occasional (7.5%) Occasional (29-5%) HP:0012664
6 aortic valve stenosis 59 32 obligate (100%) Obligate (100%) HP:0001650
7 aortic valve calcification 59 32 frequent (33%) Frequent (79-30%) HP:0004380
8 exertional dyspnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002875
9 endocardial fibroelastosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001706
10 heart murmur 59 32 hallmark (90%) Very frequent (99-80%) HP:0030148
11 dysplastic aortic valve 59 32 frequent (33%) Frequent (79-30%) HP:0005176
12 aortic valve atresia 59 32 frequent (33%) Frequent (79-30%) HP:0010883
13 abnormal t-wave 59 32 frequent (33%) Frequent (79-30%) HP:0005135
14 increased qrs voltage 59 32 frequent (33%) Frequent (79-30%) HP:0025075
15 abnormal pulse pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0030850
16 thoracic aortic aneurysm 59 32 very rare (1%) Very rare (<4-1%) HP:0012727
17 bicuspid aortic valve 32 HP:0001647
18 coarctation of aorta 32 HP:0001680
19 calcification of the aorta 32 HP:0004963
20 left ventricular failure 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Aortic Valve Disease 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.28 NPPA SMAD6 SPP1 TBX5 TNFRSF11B VWF
2 growth/size/body region MP:0005378 10.15 ACE AGT BMP2 DSP FBN1 HGD
3 homeostasis/metabolism MP:0005376 10.13 TNFSF11 VWF ACE AGT BMP2 FBN1
4 hematopoietic system MP:0005397 10.02 ACE BMP2 FBN1 NOTCH1 NPPA PDLIM1
5 mortality/aging MP:0010768 9.97 ACE AGT BMP2 DSP FBN1 NKX2-6
6 craniofacial MP:0005382 9.95 DSP FBN1 NOTCH1 SPP1 TNFRSF11B TNFSF11
7 muscle MP:0005369 9.65 AGT DSP FBN1 MYH7 NOTCH1 NPPA
8 renal/urinary system MP:0005367 9.17 ACE AGT FBN1 HGD NOTCH1 NPPA
Sources

Drugs & Therapeutics for Aortic Valve Disease 2

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Drugs for Aortic Valve Disease 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 292)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Captopril Approved Phase 4 62571-86-2 44093
2
Trandolapril Approved Phase 4 87679-37-6 5484727
3
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
4
Desflurane Approved Phase 4 57041-67-5 42113
5
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
8
Aspirin Approved, Vet_approved Phase 4,Phase 3,Not Applicable 50-78-2 2244
9
Clopidogrel Approved Phase 4,Phase 3,Early Phase 1,Not Applicable 120202-66-6, 113665-84-2 60606
10
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
11
Ticagrelor Approved Phase 4,Phase 3,Early Phase 1 274693-27-5 9871419
12
Fluvastatin Approved Phase 4,Phase 2 93957-54-1 1548972
13
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
14
Remifentanil Approved Phase 4 132875-61-7 60815
15
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
16
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
17
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
18
Acetylcysteine Approved, Investigational Phase 4,Phase 1 616-91-1 12035
19
Adenosine Approved, Investigational Phase 4,Phase 1,Phase 2 58-61-7 60961
20
Regadenoson Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 313348-27-5 219024
21
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
22 Edoxaban Approved Phase 4 480449-70-5
23
Acenocoumarol Approved, Investigational Phase 4 152-72-7 9052 54676537
24
Rivaroxaban Approved Phase 4,Phase 3 366789-02-8
25
Warfarin Approved Phase 4 81-81-2 6691 54678486
26
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
27
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
28
Dobutamine Approved Phase 4 34368-04-2 36811
29
Bisoprolol Approved Phase 4 66722-44-9 2405
30
Serine Approved, Nutraceutical Phase 4,Phase 3 56-45-1 5951
31
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 77-92-9 311
32
Glutamic Acid Approved, Nutraceutical Phase 4 56-86-0 33032
33 Simendan Investigational Phase 4,Not Applicable 131741-08-7
34 Angiotensin-Converting Enzyme Inhibitors Phase 4
35 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
36 HIV Protease Inhibitors Phase 4,Phase 3
37
protease inhibitors Phase 4,Phase 3
38 Phosphodiesterase 5 Inhibitors Phase 4
39 Phosphodiesterase Inhibitors Phase 4,Not Applicable
40 Vasodilator Agents Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
41 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
42 Anesthetics Phase 4,Phase 2,Not Applicable
43 Anesthetics, General Phase 4,Not Applicable
44 Anesthetics, Inhalation Phase 4
45 Anesthetics, Intravenous Phase 4
46 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Not Applicable
47 Hypnotics and Sedatives Phase 4
48 U 78517F Phase 4
49 Anticoagulants Phase 4,Phase 3,Not Applicable
50 Antithrombin III Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 661)
# Name Status NCT ID Phase Drugs
1 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
2 Aortic Stenosis and PhosphodiEsterase Type 5 iNhibition (ASPEN): A Pilot Study Unknown status NCT01275339 Phase 4 Tadalafil;Placebo
3 Endothelial Progenitors in Aortic Stenosis: Association With Aortic Stenosis Progression and Severity Unknown status NCT02060071 Phase 4
4 A Randomized Trial of Angiotensin Receptor bLocker,Fimasartan, in Aortic Stenosis (ALFA Trial) Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
5 The Pacing vs No Pacing Study - PNP Study Unknown status NCT02498639 Phase 4
6 Desflurane-induced Myocardial Protection Unknown status NCT02019797 Phase 4 Desflurane
7 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 Unknown status NCT02482844 Phase 4
8 Study of Administration Of Antithrombin in Patients With Low Plasmatic Levels of Antithrombin After Cardiac Surgery Unknown status NCT01201070 Phase 4 antithrombin III
9 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4 spironolactone
10 Acute Hemodynamic Effects of Sildenafil in Patients With Severe Aortic Stenosis Completed NCT01060020 Phase 4 Sildenafil
11 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
12 Platelet Function And Aggregometry In Patients With Aortic Valve Stenosis Completed NCT00156520 Phase 4 aprotonin; epsilon aminocaproic acid
13 REST Study: Left Ventricular Regression European Study Completed NCT00256165 Phase 4
14 EDWARDS INTUITY Valve System CADENCE-MIS Study Completed NCT02672553 Phase 4
15 Cerebral Embolic Load in Patients Undergoing Surgical Aortic Valve Replacement: A Comparison of the Conventional With the Minimized Extracorporeal Circulation Technique Using Transcranial Doppler Ultrasound Completed NCT02308566 Phase 4
16 Glutamate and Diastolic Function in Patients Undergoing Aortic Valve Repair Completed NCT01144039 Phase 4 LG-group;HG-group;Placebo-group
17 Remifentanil/Sufentanil for CABG+/-AVR Evaluated by Recovery, Cognitive Function, Haemodynamics and Biochemical Markers. Completed NCT02053818 Phase 4 Remifentanil;Sufentanil
18 Cardiovascular Effects of Chronic Sildenafil in Men With Type 2 Diabetes Completed NCT00692237 Phase 4 Sildenafil;Placebo
19 Ranolazine for the Treatment of Chest Pain in HCM Patients Completed NCT01721967 Phase 4 Ranolazine
20 Safety And Efficacy Of Sildenafil In Children With Pulmonary Arterial Hypertension Completed NCT01642407 Phase 4 Sildenafil
21 Protamine Sulfate During Transcatheter Aortic Valve Implantation Recruiting NCT02974660 Phase 4 Protamine sulfate;0.9% NaCl
22 Anticoagulant Versus Dual Antiplatelet Therapy for Preventing Leaflet Thrombosis and Cerebral Embolization After Transcatheter Aortic Valve Replacement Recruiting NCT03284827 Phase 4 NOAC;DAPT
23 Frailty and Cognitive Function Assessment of TAVI Patients Recruiting NCT02650388 Phase 4
24 Dual Antiplatelet Therapy Versus Oral Anticoagulation for a Short Time to Prevent Cerebral Embolism After TAVI Recruiting NCT01642134 Phase 4 aspirin+clopidogrel (Duoplavin)
25 The Effect of the Forced Diuresis With Matched Hydration in Reducing Acute Kidney Injury During TAVI Recruiting NCT01866800 Phase 4 Conventional Treatment
26 Rivaroxaban or Aspirin for Biological Aortic Prosthesis Recruiting NCT02974920 Phase 4 Rivaroxaban 10 MG;Aspirin
27 Assessment of Osteoblastic Activity With 18F-Fluoride in Aortic Bioprosthesis Structural Valve Dysfunction (SVD) Recruiting NCT03015818 Phase 4
28 Antiplatelet Therapy for Patients Undergoing Transcatheter Aortic Valve Implantation Recruiting NCT02247128 Phase 4 Aspirin + clopidogrel;Aspirin monotherapy;OAC + clopicogrel;OAC monotherapy
29 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Recruiting NCT03249272 Phase 4 Regadenoson;Adenosine
30 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
31 Platelet Reactivity After TAVI: A Multicenter Pilot Study Active, not recruiting NCT02224066 Phase 4 Ticagrelor 90 mg twice per day during three months following TAVI;Aspirin 100 mg plus Clopidogrel 75 mg daily during three months following TAVI
32 The PARTNER TRIAL - Post Approval Study Part II Active, not recruiting NCT02184442 Phase 4
33 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy Not yet recruiting NCT02948998 Phase 4 Spironolactone
34 Randomized Study to Evaluate the Efficacy of Fluvastatin on Inflammatory Markers in Patients With Aortic Stenosis. Suspended NCT00404287 Phase 4 Fluvastatin
35 The Effects of Dobutamine on Postoperative Cardiac Function in Aortic Valve Replacement Suspended NCT01375335 Phase 4 Dobutamine
36 The Effect of Lipitor on Aortic Stenosis Terminated NCT00590135 Phase 4 atorvastatin (Lipitor)
37 Effect of Bisoprolol on Progression of Aortic Stenosis Terminated NCT01579058 Phase 4 bisoprolol;placebo
38 Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot Study Terminated NCT01272388 Phase 4 Tadalafil;Placebo
39 Balloon Aortic Valvuloplasty Performed Without Heparin to Decrease Vascular and Bleeding Complications of the Procedure Terminated NCT01823393 Phase 4 Heparin;NaCl
40 Effects of Levosimendan in Patients Eligible for Aortic Valve Replacement With Left Ventricular Hypertrophy Terminated NCT01188369 Phase 4 levosimendan;placebo drug
41 TRANscatheter or SurgIcal Aortic Valve ReplacemenT in All-Comers With Severe Aortic Valve Stenosis Withdrawn NCT02838199 Phase 4
42 The Potential of Candesartan to Retard the Progression of Aortic Stenosis Unknown status NCT00699452 Phase 3 candesartan;placebo
43 Effects of High Dose Atorvastatin in Patients With Surgical Aortic Stenosis Unknown status NCT00811330 Phase 3 Atorvastatin 80 mg
44 Effect of Angiotensin II Receptor Blockers (ARB) on Left Ventricular Reverse Remodelling After Aortic Valve Replacement in Severe Valvular Aortic Stenosis Unknown status NCT00294775 Phase 3 Candesartan
45 Erythropoietin + Iron Therapy for Anemic Patients Undergoing Aortic Valve Replacement Unknown status NCT02390102 Phase 3 Erythropoietin;Placebo
46 Safety Profile Evaluation of TICagrelor Alone Compared to a Combination of Lysine Acetylsalicylate-Clopidogrel in the Context of Transcatheter Aortic Valve Implantation (TAVI) Unknown status NCT02817789 Phase 3 Ticagrelor alone;Combination lysine acetylsalicylate - clopidogrel
47 Value of Oral Phytate (InsP6) in the Prevention of Progression of the Cardiovascular Calcifications Unknown status NCT01000233 Phase 2, Phase 3
48 The Medtronic CoreValveâ„¢ Evolut Râ„¢ CE Mark Clinical Study Unknown status NCT01876420 Phase 3
49 Myocardial Protection With Perhexiline in Left Ventricular Hypertrophy Unknown status NCT00989508 Phase 2, Phase 3 Perhexiline;Placebo marked PEXSIG
50 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3

Search NIH Clinical Center for Aortic Valve Disease 2

Cochrane evidence based reviews: aortic valve stenosis

Sources

Genetic Tests for Aortic Valve Disease 2

About this section

Genetic tests related to Aortic Valve Disease 2:

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

Anatomical Context for Aortic Valve Disease 2

About this section

MalaCards organs/tissues related to Aortic Valve Disease 2:

41
Heart, Endothelial, Testes, Brain, Kidney, Bone, Skin
Sources

Publications for Aortic Valve Disease 2

About this section

Articles related to Aortic Valve Disease 2:

(show top 50) (show all 614)
# 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
The integrated value of sST2 and global longitudinal strain in the early stratification of patients with severe aortic valve stenosis: a translational imaging approach. ( 28664478 )
2017
10
Woman in black: the cardiac ochronosis with severe aortic valve stenosis. ( 29092008 )
2017
11
Severe unicuspid aortic valve stenosis: VACTERL association. ( 28942414 )
2017
12
Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis. ( 28709382 )
2017
13
Aortic Valve Stenosis in Alkaptonuria. ( 28528068 )
2017
14
Could circulating fetuin A be a biomarker of aortic valve stenosis? ( 28931474 )
2017
15
Cardiac amyloidosis mimicking severe aortic valve stenosis - a case report demonstrating diagnostic pitfalls and role of dobutamine stress echocardiography. ( 28330445 )
2017
16
Effect of APOE I/ Genotype on Lipoprotein(a) and the Associated Risk of Myocardial Infarction and Aortic Valve Stenosis. ( 28651346 )
2017
17
Calcific aortic valve stenosis: hard disease in the heart: A biomolecular approach towards diagnosis and treatment. ( 29136138 )
2017
18
Antihypertensive Treatments in Patients Affected by Aortic Valve Stenosis. ( 27881062 )
2017
19
Alcohol consumption, cigarette smoking and incidence of aortic valve stenosis. ( 28494128 )
2017
20
Role for Galectin-3 in Calcific Aortic Valve Stenosis. ( 27815266 )
2016
21
Determinants and prognostic value of Galectin-3 in patients with aortic valve stenosis. ( 26896466 )
2016
22
Micro-RNA-21 (biomarker) and global longitudinal strain (functional marker) in detection of myocardial fibrotic burden in severe aortic valve stenosis: a pilot study. ( 27567668 )
2016
23
Severe Aortic Valve Stenosis: Sustained Cure of Acquired von Willebrand Syndrome After Surgical Valve Replacement. ( 27481874 )
2016
24
Mitral and aortic valve stenosis in alkaptonuria. ( 26823449 )
2016
25
PCSK9 R46L Loss-of-Function Mutation Reduces Lipoprotein(a), LDL Cholesterol, and Risk of Aortic Valve Stenosis. ( 27218270 )
2016
26
Lactobacillus paracasei endocarditis in a consumer of probiotics with advanced and severe bicuspid aortic valve stenosis complicated with diffuse left ventricular mid-layer fibrosis. ( 27657466 )
2016
27
Aortic valve stenosis: what do people know? A heart valve disease awareness survey of over 8,800 people aged 60 or over. ( 27283409 )
2016
28
The Relationship between Galectin-3 and Different Patterns of Ventricular Geometry Remodelling in Aortic Valve Stenosis. ( 26525848 )
2016
29
Systemic vascular load in calcific degenerative aortic valve stenosis: insight from percutaneous valve replacement. ( 25660919 )
2015
30
Long-Term Results of Balloon Valvuloplasty as Primary Treatment for Congenital Aortic Valve Stenosis: a 20-Year Review. ( 25788411 )
2015
31
Oxidized Phospholipids, Lipoprotein(a), and Progression of Calcific Aortic Valve Stenosis. ( 26361154 )
2015
32
Impact of chronic obstructive pulmonary disease on survival and symptoms of severe aortic valve stenosis. ( 25658150 )
2015
33
Transcatheter Versus Surgical Aortic Valve Replacement in Patients with Severe Aortic Valve Stenosis: One-year Results from the All-comers Nordic Aortic Valve Intervention (NOTION) Randomized Clinical Trial. ( 25787196 )
2015
34
Clinical outcomes and revascularization strategies in patients with low-flow, low-gradient severe aortic valve stenosis according to the assigned treatment modality. ( 25946444 )
2015
35
Osteopontin alters endothelial and valvular interstitial cell behaviour in calcific aortic valve stenosis through HMGB1 regulation. ( 26273067 )
2015
36
Single-Stage Repair of Thoracic Aortic Aneurysm through a Median Sternotomy in a Patient with Pseudocoarctation of the Aorta and Severe Aortic Valve Stenosis. ( 26131037 )
2015
37
FTO Is Associated with Aortic Valve Stenosis in a Gender Specific Manner of Heterozygote Advantage: A Population-Based Case-Control Study. ( 26431034 )
2015
38
Hypertension, aortic valve stenosis, and the aorta: more lessons from TAVR. ( 25660920 )
2015
39
Transcatheter Aortic Valve Implantation (TAVI) in Patients With Bicuspid Aortic Valve Stenosis - Systematic Review and Meta-Analysis. ( 25818374 )
2015
40
Quadricuspid aortic valve stenosis treated with a novel, self-expanding, repositionable transcatheter aortic valve prosthesis. ( 25662057 )
2015
41
Elevated Lipoprotein(a) Does Not Cause Low-Grade Inflammation Despite Causal Association With Aortic Valve Stenosis and Myocardial Infarction: A Study of 100,578 Individuals from the General Population. ( 25938632 )
2015
42
Myocardial efficiency is an important determinant of functional improvement after aortic valve replacement in aortic valve stenosis patients: a combined PET and CMR study. ( 25680386 )
2015
43
Carbonic anhydrase XII in valve interstitial cells promotes the regression of calcific aortic valve stenosis. ( 25771146 )
2015
44
Differing relationship between hypercholesterolemia and a bicuspid aortic valve according to the presence of aortic valve stenosis or aortic valve regurgitation. ( 26033769 )
2015
45
Blood coagulation and fibrinolysis in aortic valve stenosis: links with inflammation and calcification. ( 25809537 )
2015
46
High sensitivity C reactive protein as a prognostic marker in patients with mild to moderate aortic valve stenosis during lipid-lowering treatment: an SEAS substudy. ( 25685360 )
2015
47
Impact of Aortic Valve Stenosis on Coronary Hemodynamics and the Instantaneous Effect of Transcatheter Aortic Valve Implantation. ( 26245891 )
2015
48
A case of severe aortic valve stenosis including triple-vessel ischemic heart disease in which multidisciplinary percutaneous coronary intervention and balloon aortic valvuloplasty relieved low cardiac output syndrome. ( 24902937 )
2015
49
Aortopathy in patients with bicuspid aortic valve stenosis: role of aortic root functional parametersa8 . ( 25855595 )
2015
50
Relation of Left Ventricular Mass to Prognosis in Initially Asymptomatic Mild to Moderate Aortic Valve Stenosis. ( 26489804 )
2015
Sources

Variations for Aortic Valve Disease 2

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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 94)
# 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 SLC2A10 NM_030777.3(SLC2A10): c.929C> T (p.Ser310Phe) single nucleotide variant Uncertain significance rs763521707 GRCh37 Chromosome 20, 45354604: 45354604
18 SLC2A10 NM_030777.3(SLC2A10): c.929C> T (p.Ser310Phe) single nucleotide variant Uncertain significance rs763521707 GRCh38 Chromosome 20, 46725965: 46725965
19 TBX5 NM_000192.3(TBX5): c.958delA (p.Ile320Phefs) deletion Pathogenic rs878853750 GRCh38 Chromosome 12, 114366189: 114366189
20 TBX5 NM_000192.3(TBX5): c.958delA (p.Ile320Phefs) deletion Pathogenic rs878853750 GRCh37 Chromosome 12, 114803994: 114803994
21 SMAD6 NM_005585.4(SMAD6): c.106G> A (p.Asp36Asn) single nucleotide variant Uncertain significance rs773308777 GRCh37 Chromosome 15, 66995702: 66995702
22 SMAD6 NM_005585.4(SMAD6): c.106G> A (p.Asp36Asn) single nucleotide variant Uncertain significance rs773308777 GRCh38 Chromosome 15, 66703364: 66703364
23 SMAD6 NM_005585.4(SMAD6): c.482C> T (p.Ala161Val) single nucleotide variant Uncertain significance rs748622672 GRCh38 Chromosome 15, 66703740: 66703740
24 SMAD6 NM_005585.4(SMAD6): c.482C> T (p.Ala161Val) single nucleotide variant Uncertain significance rs748622672 GRCh37 Chromosome 15, 66996078: 66996078
25 SMAD6 NM_005585.4(SMAD6): c.594C> T (p.Arg198=) single nucleotide variant Likely benign rs565225133 GRCh37 Chromosome 15, 66996190: 66996190
26 SMAD6 NM_005585.4(SMAD6): c.594C> T (p.Arg198=) single nucleotide variant Likely benign rs565225133 GRCh38 Chromosome 15, 66703852: 66703852
27 TBX5 NM_000192.3(TBX5): c.1281C> T (p.Ser427=) single nucleotide variant Benign rs6489957 GRCh37 Chromosome 12, 114793613: 114793613
28 TBX5 NM_000192.3(TBX5): c.1281C> T (p.Ser427=) single nucleotide variant Benign rs6489957 GRCh38 Chromosome 12, 114355808: 114355808
29 46;XY;t(1;5)(p35.3;q31.3)dn Translocation Pathogenic
30 TBX5 NM_000192.3(TBX5): c.587C> A (p.Ser196Ter) single nucleotide variant Pathogenic rs886041247 GRCh37 Chromosome 12, 114832622: 114832622
31 TBX5 NM_000192.3(TBX5): c.587C> A (p.Ser196Ter) single nucleotide variant Pathogenic rs886041247 GRCh38 Chromosome 12, 114394817: 114394817
32 TAB2 NM_015093.5(TAB2): c.1039C> T (p.Arg347Ter) single nucleotide variant Likely pathogenic rs1057518422 GRCh37 Chromosome 6, 149700090: 149700090
33 TAB2 NM_015093.5(TAB2): c.1039C> T (p.Arg347Ter) single nucleotide variant Likely pathogenic rs1057518422 GRCh38 Chromosome 6, 149378954: 149378954
34 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh37 Chromosome 6, 7575619: 7575619
35 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh38 Chromosome 6, 7575386: 7575386
36 DSG1 NM_001942.3(DSG1): c.604G> T (p.Glu202Ter) single nucleotide variant Likely pathogenic rs1057518788 GRCh37 Chromosome 18, 28911750: 28911750
37 DSG1 NM_001942.3(DSG1): c.604G> T (p.Glu202Ter) single nucleotide variant Likely pathogenic rs1057518788 GRCh38 Chromosome 18, 31331787: 31331787
38 TBX5 NM_000192.3(TBX5): c.456delC (p.Val153Serfs) deletion Pathogenic rs1057520136 GRCh37 Chromosome 12, 114836432: 114836432
39 TBX5 NM_000192.3(TBX5): c.456delC (p.Val153Serfs) deletion Pathogenic rs1057520136 GRCh38 Chromosome 12, 114398627: 114398627
40 TBX5 NM_000192.3(TBX5): c.1084C> G (p.Gln362Glu) single nucleotide variant Uncertain significance rs765204502 GRCh37 Chromosome 12, 114793810: 114793810
41 TBX5 NM_000192.3(TBX5): c.1084C> G (p.Gln362Glu) single nucleotide variant Uncertain significance rs765204502 GRCh38 Chromosome 12, 114356005: 114356005
42 TBX5 NM_000192.3(TBX5): c.1162G> A (p.Glu388Lys) single nucleotide variant Uncertain significance rs139371720 GRCh38 Chromosome 12, 114355927: 114355927
43 TBX5 NM_000192.3(TBX5): c.1162G> A (p.Glu388Lys) single nucleotide variant Uncertain significance rs139371720 GRCh37 Chromosome 12, 114793732: 114793732
44 TBX5 NM_000192.3(TBX5): c.755G> T (p.Ser252Ile) single nucleotide variant Uncertain significance rs863223776 GRCh38 Chromosome 12, 114385476: 114385476
45 TBX5 NM_000192.3(TBX5): c.755G> T (p.Ser252Ile) single nucleotide variant Uncertain significance rs863223776 GRCh37 Chromosome 12, 114823281: 114823281
46 TBX5 NM_000192.3(TBX5): c.278dupG (p.Leu94Profs) duplication Pathogenic GRCh38 Chromosome 12, 114399597: 114399597
47 TBX5 NM_000192.3(TBX5): c.278dupG (p.Leu94Profs) duplication Pathogenic GRCh37 Chromosome 12, 114837402: 114837402
48 TBX5 NM_000192.3(TBX5): c.1545C> T (p.Ser515=) single nucleotide variant Benign rs186780790 GRCh37 Chromosome 12, 114793349: 114793349
49 TBX5 NM_000192.3(TBX5): c.1545C> T (p.Ser515=) single nucleotide variant Benign rs186780790 GRCh38 Chromosome 12, 114355544: 114355544
50 TBX5 NM_000192.3(TBX5): c.443G> A (p.Trp148Ter) single nucleotide variant Pathogenic rs1060503154 GRCh37 Chromosome 12, 114836445: 114836445
Sources

Expression for Aortic Valve Disease 2

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

Pathways for Aortic Valve Disease 2

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

# Super pathways Score Top Affiliating Genes
1
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12 BMP2 MYH7 NPPA NPPB TBX5
2
Elastic fibre formation 66
Show member pathways
 11.44 BMP2 ELN FBN1
3
Lung fibrosis 1
11.34 DSP ELN SPP1
4
Heart Development 1
11.16 BMP2 NOTCH1 TBX5
5
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.09 SPP1 TNFRSF11B TNFSF11
6
Osteoblast Signaling 1
10.58 TNFRSF11B TNFSF11
7
Osteoclast Signaling 1
10.34 SPP1 TNFRSF11B TNFSF11
8
Cardiomyocyte Differentiation through BMP Receptors 64
10.27 BMP2 MYH7 NPPA NPPB
Sources

GO Terms for Aortic Valve Disease 2

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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 FBN1 NPPA NPPB
2 extracellular matrix GO:0031012 9.46 ELN FBN1 NPPA VWF
3 extracellular region GO:0005576 9.4 ACE AGT BMP2 ELN FBN1 NOTCH1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.83 BMP2 FBN1 NKX2-6 NOTCH1 TBX5
2 kidney development GO:0001822 9.79 ACE AGT FBN1
3 extracellular matrix organization GO:0030198 9.77 ELN FBN1 SPP1 TNFRSF11B VWF
4 extracellular matrix disassembly GO:0022617 9.7 ELN FBN1 SPP1
5 cell-substrate adhesion GO:0031589 9.63 SMAD6 VWF
6 positive regulation of bone resorption GO:0045780 9.62 SPP1 TNFSF11
7 cardiac muscle tissue morphogenesis GO:0055008 9.61 BMP2 NOTCH1
8 endocardial cushion morphogenesis GO:0003203 9.61 BMP2 NOTCH1
9 cell growth involved in cardiac muscle cell development GO:0061049 9.6 AGT NPPA
10 positive regulation of renal sodium excretion GO:0035815 9.59 AGT NPPB
11 regulation of blood vessel diameter GO:0097746 9.58 ACE NPPB
12 cardiac muscle hypertrophy in response to stress GO:0014898 9.58 MYH7 NPPA
13 cardiac epithelial to mesenchymal transition GO:0060317 9.57 BMP2 NOTCH1
14 angiotensin maturation GO:0002003 9.56 ACE AGT
15 regulation of blood pressure GO:0008217 9.56 ACE AGT NPPA NPPB
16 endocardial cushion development GO:0003197 9.55 NOTCH1 TBX5
17 positive regulation of astrocyte differentiation GO:0048711 9.54 BMP2 NOTCH1
18 pulmonary valve morphogenesis GO:0003184 9.51 NOTCH1 SMAD6
19 regulation of blood vessel size GO:0050880 9.5 AGT NPPA NPPB
20 receptor guanylyl cyclase signaling pathway GO:0007168 9.49 NPPA NPPB
21 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.48 ACE AGT
22 regulation of extracellular matrix assembly GO:1901201 9.46 AGT NOTCH1
23 regulation of renal output by angiotensin GO:0002019 9.4 ACE AGT
24 atrioventricular valve morphogenesis GO:0003181 9.33 BMP2 NOTCH1 TBX5
25 regulation of signaling receptor activity GO:0010469 9.23 AGT BMP2 FBN1 NPPA NPPB SPP1
26 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 cytokine activity GO:0005125 9.46 BMP2 SPP1 TNFRSF11B TNFSF11
2 hormone receptor binding GO:0051427 8.96 NPPA NPPB
3 hormone activity GO:0005179 8.92 AGT FBN1 NPPA NPPB
4 protein binding GO:0005515 10.19 AGT BMP2 DSP ELN FBN1 HGD
Sources

Sources for Aortic Valve Disease 2

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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