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ATRST1
MCID: ATR087
MIFTS: 74

Atrial Standstill 1 (ATRST1)

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

Aliases & Classifications for Atrial Standstill 1

About this section

MalaCards integrated aliases for Atrial Standstill 1:

Name: Atrial Standstill 1 57 12 73 29 6 15
Cardiomyopathy 62 39 17 32
Heart Block 44 62 71
Cardiomyopathy, Familial, with Conduction Disturbance 57 71
Atrial Cardiomyopathy with Heart Block 57 73
Cardiomyopathies 44 71
Atrst1 57 73
Familial Cardiomyopathy with Conduction Disturbance 73
Atrial Standstill, Digenic 57
Standstill, Atrial, Type 1 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
atrial standstill 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0080662
OMIM® 57 108770
UMLS 71 C0018794 C0878544 C1838539
Sources

Summaries for Atrial Standstill 1

About this section
PubMed Health : 62 About cardiomyopathy: Cardiomyopathy (KAR-de-o-mi-OP-ah-thee) refers to diseases of the heart muscle. These diseases have many causes, signs and symptoms, and treatments. In cardiomyopathy, the heart muscle becomes enlarged, thick, or rigid. In rare cases, the muscle tissue in the heart is replaced with scar tissue. As cardiomyopathy worsens, the heart becomes weaker. It's less able to pump blood through the body and maintain a normal electrical rhythm. This can lead to heart failure or irregular heartbeats called arrhythmias (ah-RITH-me-ahs). In turn, heart failure can cause fluid to build up in the lungs, ankles, feet, legs, or abdomen. The weakening of the heart also can cause other complications, such as heart valve problems.

MalaCards based summary : Atrial Standstill 1, also known as cardiomyopathy, is related to progressive familial heart block and cardiomyopathy, dilated, with woolly hair and keratoderma, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Atrial Standstill 1 is GJA5 (Gap Junction Protein Alpha 5), and among its related pathways/superpathways are Cardiac conduction and cGMP-PKG signaling pathway. The drugs Eplerenone and Milrinone have been mentioned in the context of this disorder. Affiliated tissues include heart, bone marrow and bone, and related phenotypes are ventricular escape rhythm and paroxysmal atrial fibrillation

Disease Ontology : 12 A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has material basis in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype.

OMIM® : 57 Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005). (108770) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Atrial standstill 1: A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm.

Sources

Related Diseases for Atrial Standstill 1

About this section

Diseases in the Atrial Standstill family:

Atrial Standstill 1 Atrial Standstill 2

Diseases related to Atrial Standstill 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2124)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block 33.5 TNNT2 RYR2 MYH7 MYBPC3 GJA5 DSP
2 cardiomyopathy, dilated, with woolly hair and keratoderma 33.1 RYR2 PKP2 DSP
3 cardiomyopathy, dilated, 1e 33.1 TTN-AS1 TPM1 RBM20 PKP2 MYH7 LMNA
4 naxos disease 33.0 RYR2 PKP2 DSP
5 cardiomyopathy, dilated, 1dd 32.8 TNNT2 RYR2 RBM20
6 cardiomyopathy, dilated, 1b 32.7 TTN-AS1 TNNT2 RBM20 MYH7 MYBPC3 LMNA
7 cardiomyopathy, dilated, 1h 32.7 TTN-AS1 RBM20 MYBPC3 LMNA DSP
8 atrioventricular block 32.5 TTN-AS1 TNNI3 RYR2 MYH7 LMNA GJA5
9 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 32.4 RYR2 PKP2 MYH7 DSP
10 first-degree atrioventricular block 32.1 MYH7 LMNA
11 holt-oram syndrome 32.0 MYH7 LMNA GJA5
12 intrinsic cardiomyopathy 32.0 TPM1 TNNT2 TNNI3 TAZ RYR2 RBM20
13 familial woolly hair syndrome 32.0 RYR2 PKP2 DSP
14 mitochondrial dna depletion syndrome 12b 31.7 RBM20 PRKAG2 MYH7 MYBPC3
15 heart septal defect 31.7 TNNT2 GJA5 ACTC1
16 arrhythmogenic right ventricular cardiomyopathy 31.7 RYR2 RBM20 PKP2 MYH7 LMNA DSP
17 congenital fiber-type disproportion 31.6 MYH7 LMNA ACTC1
18 left bundle branch hemiblock 31.5 TNNT2 TNNI3 RYR2 PKP2 LMNA DSP
19 restrictive cardiomyopathy 31.4 TTR TTN-AS1 TPM1 TNNT2 TNNI3 MYH7
20 ventricular fibrillation, paroxysmal familial, 1 31.3 TNNT2 RYR2 DSP
21 cardiac arrest 31.2 TNNT2 TNNI3 RYR2 MYH7 MYBPC3 DSP
22 atrial heart septal defect 31.2 TNNT2 TNNI3 MYH7 GJA5 ACTC1
23 cardiac conduction defect 31.1 RYR2 MYH7 MYBPC3 LMNA DSP CEP85L
24 mitral valve insufficiency 31.1 TNNT2 TNNI3 MYH7 MYBPC3
25 congestive heart failure 31.1 TNNT2 TNNI3 RYR2 MYH7
26 tetralogy of fallot 31.0 TPM1 TNNT2 TNNI3 RYR2 GJA5 ACTC1
27 al amyloidosis 31.0 TTR ACTC1
28 dextrocardia 30.9 TNNT2 MYH7 ACTC1
29 catecholaminergic polymorphic ventricular tachycardia 30.9 TPM1 TNNT2 RYR2 PKP2 MYH7 MYBPC3
30 wolff-parkinson-white syndrome 30.9 TTN-AS1 TNNT2 TNNI3 PRKAG2 MYH7 MYBPC3
31 arrhythmogenic right ventricular dysplasia, familial, 4 30.9 RYR2 PKP2 DSP
32 subvalvular aortic stenosis 30.9 TNNI3 DSP
33 dilated cardiomyopathy 30.8 TTN-AS1 TPM1 TNNT2 TNNI3 TAZ RYR2
34 arrhythmogenic right ventricular dysplasia, familial, 5 30.8 RYR2 PKP2 DSP
35 arrhythmogenic right ventricular dysplasia, familial, 9 30.8 RYR2 PKP2 LMNA DSP CEP85L
36 cardiac arrhythmia 30.8 RYR2 PKP2 DSP
37 arrhythmogenic right ventricular dysplasia, familial, 1 30.8 TTN-AS1 RYR2 PKP2 MYBPC3 DSP
38 heart disease 30.8 TTR TPM1 TNNT2 TNNI3 TAZ RYR2
39 barth syndrome 30.8 TTR TNNT2 TAZ MYH7 MYBPC3 ACTC1
40 third-degree atrioventricular block 30.8 TTN-AS1 GJA5
41 lipoprotein quantitative trait locus 30.7 TNNT2 TNNI3 RYR2 PKP2 MYH7 MYBPC3
42 hypertrophic cardiomyopathy 30.7 TTR TPM1 TNNT2 TNNI3 TAZ RYR2
43 progressive familial heart block, type ia 30.7 GJA5 DSP
44 mobitz type ii atrioventricular block 30.7 TNNT2 MYH7 LMNA ACTC1
45 long qt syndrome 30.7 TTN-AS1 RYR2 RBM20 PKP2 MYH7 MYBPC3
46 myopathy 30.7 TTR TTN-AS1 TPM1 TNNT2 TNNI3 TAZ
47 atrial fibrillation 30.7 RYR2 MYH7 MYBPC3 LMNA GJA5
48 aortic valve disease 2 30.7 TNNT2 TNNI3 MYH7 MYBPC3
49 hypoplastic left heart syndrome 30.6 TNNT2 TNNI3 GJA5
50 neuromuscular disease 30.5 TTN-AS1 RYR2 MYH7 LMNA

Comorbidity relations with Atrial Standstill 1 via Phenotypic Disease Network (PDN):


Heart Disease

Graphical network of the top 20 diseases related to Atrial Standstill 1:



Diseases related to Atrial Standstill 1
Sources

Symptoms & Phenotypes for Atrial Standstill 1

About this section

Human phenotypes related to Atrial Standstill 1:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 ventricular escape rhythm 31 very rare (1%) HP:0005155
2 paroxysmal atrial fibrillation 31 very rare (1%) HP:0004757
3 atrial standstill 31 very rare (1%) HP:0025478
4 first degree atrioventricular block 31 HP:0011705
5 endocardial fibroelastosis 31 HP:0001706
6 premature atrial contractions 31 HP:0006699
7 atrial cardiomyopathy 31 HP:0200127

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Lab:
endocardial fibroelastosis

Cardiac:
atrial standstill
atrial cardiomyopathy
first-degree heart block
ectopic supraventricular rhythms
atrial inexcitability

Clinical features from OMIM®:

108770 (Updated 05-Mar-2021)

UMLS symptoms related to Atrial Standstill 1:


angina pectoris, chest pain, edema

MGI Mouse Phenotypes related to Atrial Standstill 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.83 ACTC1 DSP GJA5 LAMP2 LMNA MYBPC3
2 muscle MP:0005369 9.44 ACTC1 DSP GJA5 LAMP2 LMNA MYBPC3
Sources

Drugs & Therapeutics for Atrial Standstill 1

About this section

PubMed Health treatment related to Atrial Standstill 1: 62

People who have cardiomyopathy but no signs or symptoms may not need treatment . Sometimes, dilated cardiomyopathy that comes on suddenly may even go away on its own. For other people who have cardiomyopathy , treatment is needed. Treatment depends on the type of cardiomyopathy you have, the severity of your symptoms and complications, and your age and overall health. The main goals of treating cardiomyopathy include: Managing any conditions that cause or contribute to the disease Controlling signs and symptoms so that you can live as normally as possible Stopping the disease from getting worse Reducing complications and the risk of sudden cardiac arrest (SCA) Treatments may include lifestyle changes, medicines, surgery , implanted devices to correct arrhythmias (irregular heartbeats ), and/or a nonsurgical procedure.

Drugs for Atrial Standstill 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 352)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4 107724-20-9 150310 443872
2
Milrinone Approved Phase 4 78415-72-2 4197
3
Verapamil Approved Phase 4 52-53-9 2520
4
Norepinephrine Approved Phase 4 51-41-2 439260
5
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
6
Selenious acid Approved, Investigational Phase 4 7783-00-8
7
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
8
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
9
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
10
Atorvastatin Approved Phase 4 134523-00-5 60823
11
Doxazosin Approved Phase 4 74191-85-8 3157
12
Acetylcarnitine Approved, Investigational Phase 4 3040-38-8 7045767
13
Iron Approved Phase 4 7439-89-6 23925 29936
14
Digoxin Approved Phase 4 20830-75-5 30322 2724385
15
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
16
Deferiprone Approved Phase 4 30652-11-0 2972
17
Enalaprilat Approved Phase 4 76420-72-9 6917719
18
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
19
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
20
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
21
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
22
Propafenone Approved Phase 4 54063-53-5 4932
23
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
24
Azathioprine Approved Phase 4 446-86-6 2265
25
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
26
Dobutamine Approved Phase 4 34368-04-2 36811
27
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
28
Regadenoson Approved, Investigational Phase 4 313348-27-5 219024
29
Adenosine Approved, Investigational Phase 4 58-61-7 60961
30
Trastuzumab Approved, Investigational Phase 4 180288-69-1 9903
31
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
32
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4 303-98-0 5281915
33
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
34
Simendan Investigational Phase 4 131741-08-7
35 Phosphodiesterase 3 Inhibitors Phase 4
36 Vasoconstrictor Agents Phase 4
37 Adrenergic alpha-Agonists Phase 4
38 Hematinics Phase 4
39 Epoetin alfa Phase 4 113427-24-0
40 Mitogens Phase 4
41 carnitine Phase 4
42 Nutrients Phase 4
43 Trace Elements Phase 4
44 Sodium Selenite Phase 4
45 Micronutrients Phase 4
46 Phosphodiesterase 5 Inhibitors Phase 4
47 Insulin, Globin Zinc Phase 4
48 insulin Phase 4
49 Alpha-lipoic Acid Phase 4
50 Thioctic Acid Phase 4

Interventional clinical trials:

(show top 50) (show all 941)
# Name Status NCT ID Phase Drugs
1 Identification of Carnitine-responsive Cardiomyopathy and Myopathy in Adult Patients With Dilated and/or Hypertrophic Cardiomyopathy and Limb Girdle Weakness. Unknown status NCT01904396 Phase 4 Carnitine
2 A Randomised, Double-Blinded, Placebo-Controlled Trial Using Cardiovascular Magnetic Resonance (CMR) Scanning to Assess Remodelling and Regression of Fibrosis in Cardiomyopathy With Eplerenone Unknown status NCT00401856 Phase 4 Eplerenone;Placebo
3 Prospective, Randomized Comparison of Therapy With Verapamil or Carvedilol on Long-Term Outcomes of Patients With Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy Unknown status NCT00374465 Phase 4 Verapamil;Carvedilol
4 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy-- a Multicenter Randomized Control Trial Unknown status NCT02948998 Phase 4 Spironolactone
5 Prophylactic Lisinopril to Prevent Anthracycline Induced Left Ventricular Systolic Dysfunction (PLAID) Study. Unknown status NCT03392740 Phase 4 Lisinopril;Placebo Oral Tablet
6 Myocardial Revascularization in Patients With Ischemic Cardiomyopathy: a Comparison Between Percutaneous Coronary Intervention and Coronary Artery Bypass Surgery Unknown status NCT00388245 Phase 4
7 Prospective, Randomized Comparison of Therapy With Verapamil or Carvedilol on Long-Term Outcomes of Patients With Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy Unknown status NCT00348530 Phase 4 Verapamil
8 Potential Differences Between Levosimendan and Milrinone on Myocardial and Hemodynamic Variables in Patients With Septic Cardiomyopathy. Effects of Norepinephrine on Right Ventricular Function in Patient With Septic Shock. Unknown status NCT02640846 Phase 4 Norepinephrine;Milrinone;Levosimendan
9 A DANish Randomized, Controlled, Multicenter Study to Assess the Efficacy of Implantable Cardioverter Defibrillator in Patients With Non-ischemic Systolic Heart Failure on Mortality. The DANISH Study Unknown status NCT00541268 Phase 4
10 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Unknown status NCT00879060 Phase 4 spironolactone
11 Carvedilol for the Prevention of Minor Cardiac Damage and Cardiac Function in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
12 A Prospective, Randomized Trial Using a reproduciBLe volUmE-Measurement stratEGy in the surGical Reconstruction of the Ischemic Cardiomyopathic Heart Unknown status NCT00326690 Phase 4
13 Syncope: Pacing or Recording in the Later Years (SPRITELY) Completed NCT01423994 Phase 4
14 Pilot Study to Assess the Effect of Low Dose Epoetin Beta Administered for Six Month in Patients With Ischemic Heart Failure Subjected to Percutaneous Coronary Intervention (PCI) Completed NCT00568542 Phase 4 erythropoetin beta;placebo
15 Peripartum Cardiomyopathy in Nigeria (PEACE) A Registry to Study the Demographics, Social and Clinical Characteristics, Pathophysiology and Outcomes of Peripartum Cardiomyopathy in Nigeria Completed NCT03081949 Phase 4 Oral Sodium Selenite 200 µg/day for 3 months
16 A Randomized Trial of Carvedilol After Renin-angiotensin System Inhibition in Chronic Chagas Cardiomyopathy Completed NCT01557140 Phase 4 RASi plus carvedilol
17 Pacing for Cardiomyopathies, a European Study- A Therapy Acceptance Study Completed NCT00180596 Phase 4
18 Phase IV Study on New Insights in Remodeling of Diabetic Cardiomyopathy: Gender Difference in Intramyocardial, Molecular and Neuroendocrine Assessment in Response to Chronic Inhibition of Cyclic GMP Phosphodiesterase 5A Completed NCT01803828 Phase 4 Tadalafil;Placebo
19 Ranolazine for the Treatment of Angina in Hypertrophic Cardiomyopathy Investigation Completed NCT01721967 Phase 4 Ranolazine
20 Ranolazine in Ischemic Cardiomyopathy Patients With Persistent Chest Pain or Dyspnea Despite Conventional Therapy: A Cross-Over Study Completed NCT01345188 Phase 4 Ranexa;Placebo
21 Efficacy and Safety Study of Supramaximal Titrated Inhibition of RAAS in Idiopathic Dilated Cardiomyopathy Completed NCT01917149 Phase 4 Benazepril;Valsartan;Metoprolol
22 A Multi-center, Randomized, Double, Placebo-controlled, Parallel Group Study of Improving Heart Function and Immunoregulation Effects of Qiliqiangxin Capsule in Patients With Dilated Cardiomyopathy Completed NCT01293903 Phase 4 Qiliqiangxin capsule;Placebo
23 Effect of Coenzyme Q10 (Ubiquinone) Supplementation on Ventricular Function of Children With Idiopathic Dilated Cardiomyopathy.A Randomised Clinical Trial Completed NCT02115581 Phase 4 Coenzyme Q10;Placebo
24 Beta-blocker Effect on Structural Remodeling and Gene Expression in the Failing Human Heart Completed NCT01798992 Phase 4 Carvedilol;Metoprolol succinate;Metoprolol succinate + doxazosin
25 Protective Effects of Spironolactone Against Anthracycline Induced Cardiomyopathy Completed NCT02053974 Phase 4 Spironolactone
26 Statin Induced Augmentation of Circulating Endothelial Progenitor Cells and Myocardial Viability in Patients With Ischemic and Nonischemic Cardiomyopathy Completed NCT00701220 Phase 4 Atorvastatin Calcium
27 Polypharmacy in the Heart Failure Patient: Are All Prescribed Drug Classes Required? Aspirin Withdrawal in Non-ischaemic Cardiomyopathy Study Completed NCT01534026 Phase 4 Aspirin
28 Sympathetic Heart Innervation in Patients With Previous Experience of Transient Stress-induced Cardiomyopathy (Tako-Tsubo): Effects of α-lipoic Acid and L-acetyl Carnitine Therapies. Completed NCT01524861 Phase 4 Placebo;alpha-lipoic acid;L-acetyl carnitine
29 A Randomized Trial of the Effects of Exercise Training in Chagas Cardiomyopathy Completed NCT01006473 Phase 4
30 Effect of Aldosterone on Energy Starvation in Heart Failure Completed NCT00574119 Phase 4 spironolactone
31 Phase 4. Study of Cardiac Resynchronization Therapy in Patients With Permanent Atrial Fibrillation. Completed NCT01181414 Phase 4 Beta blocker/digoxine/amiodarone
32 Analyse Der Unterschiede Zwischen Aktiv-fixierenden Und Passiv-fixierenden Stimulations-Elektroden Hinsichtlich Implantationsdauer Und Elektrischer Parameter Completed NCT00180557 Phase 4
33 Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure Completed NCT01261065 Phase 4 carvedilol
34 123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging Completed NCT01868841 Phase 4 AdreView
35 Vitamin D Treatment Attenuates Heart Apoptosis After Coronary Artery Bypass Surgery; A Double-Blind Randomized Placebo-Controlled Clinical Trial Completed NCT04323852 Phase 4 Vitamin D;Placebo
36 Acutely Decompensated Heart Failure in a County Emergency Department: A Double Blind Randomized Controlled Comparison of Nesiritide vs. Placebo Treatment Completed NCT00559338 Phase 4 recombinant B-type, natriuretic peptide;placebo
37 Novel Strategy For Perioperative Beta-Blocker Therapy - Pilot Study Completed NCT02746575 Phase 4 metoprolol
38 The Ontario Multidetector Computed Tomography (MDCT) Coronary Angiography Study (OMCAS) Completed NCT00371891 Phase 4
39 Clinical Evaluation on Advanced Resynchronization Completed NCT00658203 Phase 4
40 Increased Survival and Reversion of Iron-Induced Cardiac Disease in Patients With Thalassemia Major Receiving Intensive Combined Chelation Therapy Completed NCT00800761 Phase 4 Deferoxamine and Deferiprone;Deferoxamine
41 Pulse Reduction On Beta-blocker and Ivabradine Therapy Recruiting NCT02973594 Phase 4 Ivabradine;Placebo
42 The Effects of SGLT Inhibition on Diabetic Cardiomyopathy Recruiting NCT04200586 Phase 4 Dapagliflozin
43 Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy Recruiting NCT04133532 Phase 4 Metoprolol
44 A Multicenter, Prospective, Randomized, Open-label, Blinded-endpoint, Phase 4 Study to Evaluate the Efficacy and Safety of Sacubitril/Valsartan Compared With Enalapril on Morbidity, Mortality, and NT-proBNP Change in Patients With Chronic Chagas' Cardiomyopathy Recruiting NCT04023227 Phase 4 Sacubitril/valsartan;Enalapril
45 Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS): A Pilot Study Recruiting NCT03228823 Phase 4 Amiodarone (Antiarrhythmic drug)
46 Alternative Imaging Modalities in Ischemic Heart Failure (AIMI-HF) Project I-A of Imaging Modalities to Assist With Guiding Therapy and the Evaluation of Patients With Heart Failure (IMAGE-HF) Active, not recruiting NCT01288560 Phase 4
47 A Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy of Immunosuppression in Biopsy-proven Virus Negative Myocarditis or Inflammatory Cardiomyopathy Not yet recruiting NCT04654988 Phase 4 Prednisone;Azathioprine;Placebo Prednisone;Placebo Azathioprine
48 Effect of Spironolactone Treatment on Heart- and Skeletal Muscle in Chronic Alcoholics Suspended NCT00226109 Phase 4 spironolactone
49 The Effects of Dobutamine on Postoperative Systolic Deformation and Diastolic Function in Patients With Hypertrophic Cardiomyopathy Operated for Aortic Valve Stenosis Suspended NCT01375335 Phase 4 Dobutamine
50 Spironolactone Therapy in Chronic Stable Right HF Trial Suspended NCT03344159 Phase 4 Spironolactone;Placebo

Search NIH Clinical Center for Atrial Standstill 1

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Dopamine
Dopamine Hydrochloride
Epinephrine
epinephrine bitartrate
epinephrine hydrochloride
epinephryl borate
Isoproterenol
Isoproterenol Hydrochloride
Isoproterenol Sulfate
Racepinephrine Hydrochloride

Cochrane evidence based reviews: heart block

Sources

Genetic Tests for Atrial Standstill 1

About this section

Genetic tests related to Atrial Standstill 1:

# Genetic test Affiliating Genes
1 Atrial Standstill 1 29 GJA5
Sources

Anatomical Context for Atrial Standstill 1

About this section

MalaCards organs/tissues related to Atrial Standstill 1:

40
Heart, Bone Marrow, Bone, Endothelial, Liver, Brain, Skeletal Muscle
Sources

Publications for Atrial Standstill 1

About this section

Articles related to Atrial Standstill 1:

(show top 50) (show all 30342)
# Title Authors PMID Year
1
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. 61 54 6
16917092 2006
2
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 6 61
23299917 2013
3
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 6 61
20160190 2010
4
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 6 61
20129281 2010
5
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 6 61
18585512 2008
6
Familial atrial standstill in association with dilated cardiomyopathy. 61 57
16176547 2005
7
Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms. 57
16188595 2005
8
A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. 57
12522116 2003
9
Familial total atrial standstill. 57
1575158 1992
10
Familial atrial dysrhythmia with A-V block. Intracellular microelectrode, clinical electrophysiologic, and morphologic observations. 57
4430108 1974
11
Familial atrial cardiomyopathy with heart block. 57
4636548 1972
12
Atrial standstill: a review, and presentation of two new cases of familial and unususal nature with reference to epicardial pacing in one. 57
5347950 1969
13
Cardiomyocyte-targeted overexpression of the coxsackie-adenovirus receptor causes a cardiomyopathy in association with beta-catenin signaling. 54 61
20144615 2010
14
Involvement of reductive stress in the cardiomyopathy in transgenic mice with cardiac-specific overexpression of heat shock protein 27. 54 61
20439823 2010
15
Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. 61 54
20083571 2010
16
Nesprin-1 mutations in human and murine cardiomyopathy. 54 61
19944109 2010
17
Letter by yilmaz et Al regarding article, "analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy". 54 61
20407095 2010
18
Familial dilated cardiomyopathy secondary to dystrophin splice site mutation. 54 61
20206892 2010
19
Ventricular fibrillation following autologous intramyocardial cell therapy for inherited cardiomyopathy. 54 61
19026577 2010
20
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain. 61 54
20133133 2010
21
Attenuation of Doxorubicin-induced cardiomyopathy by endothelin-converting enzyme-1 ablation through prevention of mitochondrial biogenesis impairment. 61 54
20101000 2010
22
A common MLP (muscle LIM protein) variant is associated with cardiomyopathy. 54 61
20044516 2010
23
Long-term improvement in mdx cardiomyopathy after therapy with peptide-conjugated morpholino oligomers. 61 54
19815563 2010
24
Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations. 61 54
19864899 2010
25
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. 54 61
20031633 2009
26
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene. 54 61
19773168 2009
27
Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. 61 54
20031619 2009
28
Unique microRNA profile in end-stage heart failure indicates alterations in specific cardiovascular signaling networks. 47
19641226 2009
29
Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia. 54 61
19638735 2009
30
Association of angiotensin-converting enzyme activity and polymorphism with echocardiographic measures in familial and nonfamilial hypertrophic cardiomyopathy. 54 61
19390744 2009
31
Familial amyloid cardiomyopathy due to TTR mutations: an underdiagnosed cause of restrictive cardiomyopathy [corrected]. 54 61
19477408 2009
32
[Anthracycline-induced cardiomyopathy]. 54 61
19423276 2009
33
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. 61 54
19433360 2009
34
Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations. 61 54
19178614 2009
35
A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death. 54 61
19328042 2009
36
Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 61 54
19427443 2009
37
Correlation between BNP levels and Doppler echocardiographic parameters of left ventricle filling pressure in patients with Chagasic cardiomyopathy. 61 54
19452608 2009
38
Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy. 54 61
19233868 2009
39
MicroRNA-320 is involved in the regulation of cardiac ischemia/reperfusion injury by targeting heat-shock protein 20. 47
19380620 2009
40
A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. 61 54
19279339 2009
41
Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. 61 54
19318653 2009
42
Stress-induced (Takotsubo) cardiomyopathy: a transient disorder. 54 61
17651835 2009
43
Relation of brain natriuretic peptide level to extent of left ventricular scarring in patients with chronic heart failure secondary to ischemic cardiomyopathy. 54 61
19121444 2009
44
Protective effect of geranylgeranylacetone via enhancement of HSPB8 induction in desmin-related cardiomyopathy. 54 61
19399179 2009
45
Catecholamine-induced cardiomyopathy. 61 54
19158054 2008
46
Anthracycline-induced cardiomyopathy. 54 61
19020367 2008
47
Dystrophin: from non-ischemic cardiomyopathy to ischemic cardiomyopathy. 54 61
18562127 2008
48
Role of coxsackievirus and adenovirus receptor in the pathogenesis of dilated cardiomyopathy and its influencing factor. 61 54
18959124 2008
49
Effects of functional electrical stimulation on quality of life and emotional stress in patients with chronic heart failure secondary to ischaemic or idiopathic dilated cardiomyopathy: a randomised, placebo-controlled trial. 61 54
18558509 2008
50
Claudin-5 levels are reduced in human end-stage cardiomyopathy. 54 61
18513742 2008
Sources

Variations for Atrial Standstill 1

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ClinVar genetic disease variations for Atrial Standstill 1:

6 (show top 50) (show all 9936)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTR NM_000371.4(TTR):c.424G>A (p.Val142Ile) SNV Pathogenic 13426 rs76992529 18:29178618-29178618 18:31598655-31598655
2 SCN1B NM_001037.5(SCN1B):c.308A>T (p.Asp103Val) SNV Pathogenic 375404 rs1057519457 19:35524503-35524503 19:35033599-35033599
3 MIPEP NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter) SNV Pathogenic 208631 rs114638163 13:24380133-24380133 13:23805994-23805994
4 C1QTNF9 GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Pathogenic 208634 13:23519916-24941516
5 TPM1 NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) SNV Pathogenic 43420 rs397516373 15:63351862-63351862 15:63059663-63059663
6 TTN-AS1 NM_001267550.2(TTN):c.47961del (p.Gly15988fs) Deletion Pathogenic 523430 rs1553707780 2:179481655-179481655 2:178616928-178616928
7 TTN-AS1 NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) SNV Pathogenic 132133 rs869320740 2:179410829-179410829 2:178546102-178546102
8 CEP85L NM_002667.5(PLN):c.37_39AGA[1] (p.Arg14del) Microsatellite Pathogenic 44580 rs397516784 6:118880120-118880122 6:118558957-118558959
9 TNNT2 NM_001276345.2(TNNT2):c.844dup (p.Gln282fs) Duplication Pathogenic 181639 rs730881119 1:201328757-201328758 1:201359629-201359630
10 LAMP2 NM_013995.2(LAMP2):c.584_588dup (p.Val197fs) Duplication Pathogenic 180887 rs730880492 X:119581848-119581849 X:120447993-120447994
11 LMNA NM_170707.4(LMNA):c.1296_1299GCAC[4] (p.Ser437fs) Microsatellite Pathogenic 66803 rs267607577 1:156106142-156106143 1:156136351-156136352
12 TTN-AS1 NM_001267550.2(TTN):c.91839dup (p.Val30614fs) Duplication Pathogenic 179692 rs730880365 2:179414725-179414726 2:178549998-178549999
13 TTN-AS1 NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs) Deletion Pathogenic 202482 rs794729354 2:179424468-179424472 2:178559741-178559745
14 TTN-AS1 NM_001267550.2(TTN):c.86821+2T>A SNV Pathogenic 47458 rs397517735 2:179424036-179424036 2:178559309-178559309
15 TTN-AS1 NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) SNV Pathogenic 47301 rs397517689 2:179439257-179439257 2:178574530-178574530
16 CEP85L NM_002667.5(PLN):c.25C>T (p.Arg9Cys) SNV Pathogenic 13636 rs111033559 6:118880109-118880109 6:118558946-118558946
17 PRKAG2 NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) SNV Pathogenic 6846 rs121908987 7:151273498-151273498 7:151576412-151576412
18 PKP2 NM_004572.3(PKP2):c.775G>T (p.Glu259Ter) SNV Pathogenic 464432 rs1425855043 12:33031039-33031039 12:32878105-32878105
19 PKP2 NM_001005242.2(PKP2):c.148_151del (p.Thr50fs) Deletion Pathogenic 45028 rs397516997 12:33049515-33049518 12:32896581-32896584
20 TTN-AS1 NM_001267550.2(TTN):c.97492+1G>C SNV Pathogenic 180058 rs727505319 2:179406990-179406990 2:178542263-178542263
21 TTN-AS1 NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) SNV Pathogenic 165869 rs371678190 2:179442793-179442793 2:178578066-178578066
22 TTN-AS1 NM_001267550.2(TTN):c.51739+1G>C SNV Pathogenic 179336 rs727504799 2:179474410-179474410 2:178609683-178609683
23 TNNI3 NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) SNV Pathogenic 43395 rs397516357 19:55663278-55663278 19:55151910-55151910
24 TAZ NM_000116.5(TAZ):c.688del (p.Arg230fs) Deletion Pathogenic 626857 rs1569552936 X:153648588-153648588 X:154420249-154420249
25 PKP2 NM_001005242.3(PKP2):c.2014-1G>C SNV Pathogenic 6756 rs193922674 12:32955491-32955491 12:32802557-32802557
26 RBM20 NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) SNV Pathogenic 271 rs267607004 10:112572062-112572062 10:110812304-110812304
27 MYH7 NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) SNV Pathogenic 43098 rs45516091 14:23900817-23900817 14:23431608-23431608
28 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) SNV Pathogenic 14088 rs3218713 14:23900677-23900677 14:23431468-23431468
29 PKP2 NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) SNV Pathogenic 45016 rs372827156 12:33003841-33003841 12:32850907-32850907
30 PKP2 NM_004572.3(PKP2):c.1171-2A>G SNV Pathogenic 202030 rs794729133 12:33003909-33003909 12:32850975-32850975
31 LMNA NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) SNV Pathogenic 48074 rs60682848 1:156104629-156104629 1:156134838-156134838
32 LMNA NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) SNV Pathogenic 14504 rs28933093 1:156100532-156100532 1:156130741-156130741
33 MYH7 NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) SNV Pathogenic 42890 rs121913632 14:23894969-23894969 14:23425760-23425760
34 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) SNV Pathogenic 42874 rs397516127 14:23896043-23896043 14:23426834-23426834
35 TTN-AS1 NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) Duplication Pathogenic 519013 rs1285329277 2:179424782-179424783 2:178560055-178560056
36 TPM1 NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) SNV Pathogenic 12456 rs104894503 15:63353098-63353098 15:63060899-63060899
37 TNNI3 NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) SNV Pathogenic 43388 rs397516353 19:55665477-55665477 19:55154109-55154109
38 TNNI3 NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) SNV Pathogenic 12426 rs104894724 19:55665514-55665514 19:55154146-55154146
39 TTN-AS1 NM_001267550.2(TTN):c.49345+1G>A SNV Pathogenic 915698 2:179478778-179478778 2:178614051-178614051
40 TTN-AS1 NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) SNV Pathogenic 202377 rs751502842 2:179477169-179477169 2:178612442-178612442
41 TTN-AS1 NM_001267550.2(TTN):c.49648+2del Deletion Pathogenic 179411 rs727504851 2:179477886-179477886 2:178613159-178613159
42 TNNT2 NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) SNV Pathogenic 177636 rs727504247 1:201328345-201328345 1:201359217-201359217
43 DSP NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) SNV Pathogenic 180326 rs730880082 6:7577219-7577219 6:7576986-7576986
44 PKP2 NM_001005242.3(PKP2):c.2357+1G>A SNV Pathogenic 6757 rs111517471 12:32949042-32949042 12:32796108-32796108
45 PKP2 NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) Indel Pathogenic 45063 rs397517021 12:32955434-32955439 12:32802500-32802505
46 TNNT2 NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) SNV Pathogenic 12408 rs121964855 1:201334766-201334766 1:201365638-201365638
47 DSP NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) SNV Pathogenic 199855 rs149701627 6:7565702-7565702 6:7565469-7565469
48 PKP2 NM_001005242.3(PKP2):c.1128dup (p.Ile377fs) Duplication Pathogenic 919177 12:33021902-33021903 12:32868968-32868969
49 PKP2 NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter) SNV Pathogenic 839473 12:32955442-32955442 12:32802508-32802508
50 PKP2 NM_004572.3(PKP2):c.368G>A (p.Trp123Ter) SNV Pathogenic 196395 rs760576804 12:33031446-33031446 12:32878512-32878512

UniProtKB/Swiss-Prot genetic disease variations for Atrial Standstill 1:

73
# Symbol AA change Variation ID SNP ID
1 GJA5 p.Pro88Ser VAR_035013 rs121434558
2 GJA5 p.Ala96Ser VAR_035014 rs121434557
3 SCN5A p.Asp1275Asn VAR_026373 rs137854618

Copy number variations for Atrial Standstill 1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 39890 10 121400871 121427319 Deletion BAG3 Cardiomyopathy
2 139275 2 178000000 180600000 Loss TTN Cardiomyopathy
3 262125 X 31047265 33267647 Deletion DMD Cardiomyopathy
4 140112 2 191900000 197400000 Loss DNAJB1 Cardiomyopathy
5 20789 1 154318992 154376502 Deletion LMNA Cardiomyopathy
Sources

Expression for Atrial Standstill 1

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Search GEO for disease gene expression data for Atrial Standstill 1.
Sources

Pathways for Atrial Standstill 1

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Pathways related to Atrial Standstill 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 65
Show member pathways
 12.58 TPM1 TNNT2 TNNI3 RYR2 MYBPC3
2
cGMP-PKG signaling pathway 36
Show member pathways
 12.3 TPM1 TNNT2 TNNI3 RYR2 MYH7 ACTC1
3
Cytoskeletal Signaling 4
12.25 TPM1 TNNT2 TNNI3 LMNA ACTC1
4
Arrhythmogenic right ventricular cardiomyopathy 36 1
11.89 RYR2 PKP2 LMNA DSP
5
Dilated cardiomyopathy 36
Show member pathways
 11.55 TPM1 TNNT2 TNNI3 RYR2 PRKAG2 MYH7
6
Striated Muscle Contraction 65 1
11.41 TPM1 TNNT2 TNNI3 MYBPC3 ACTC1
7
Cardiac muscle contraction 36
11.37 TPM1 TNNT2 TNNI3 RYR2 MYH7 ACTC1
8
Cardiac Progenitor Differentiation 1
11.33 TNNT2 TNNI3 ACTC1
9
Antiarrhythmic Pathway, Pharmacodynamics 60
11.31 RYR2 LMNA GJA5 DSP
Sources

GO Terms for Atrial Standstill 1

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Cellular components related to Atrial Standstill 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 9.5 PKP2 GJA5 DSP
2 myofibril GO:0030016 9.43 TNNT2 TNNI3 MYH7
3 myosin filament GO:0032982 9.4 MYH7 MYBPC3
4 troponin complex GO:0005861 9.37 TNNT2 TNNI3
5 sarcomere GO:0030017 9.17 TPM1 TNNT2 TNNI3 RYR2 MYH7 MYBPC3
6 cardiac Troponin complex GO:1990584 9.16 TNNT2 TNNI3
7 cardiac myofibril GO:0097512 9.13 TNNT2 TNNI3 MYBPC3

Biological processes related to Atrial Standstill 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.83 TNNI3 TAZ RBM20 PKP2 GJA5
2 positive regulation of ATPase activity GO:0032781 9.67 TPM1 TNNT2 MYBPC3
3 muscle contraction GO:0006936 9.65 TPM1 TNNT2 TNNI3 TAZ MYH7
4 muscle filament sliding GO:0030049 9.63 TPM1 TNNT2 TNNI3 MYH7 MYBPC3 ACTC1
5 regulation of cardiac muscle contraction GO:0055117 9.58 RYR2 GJA5
6 ventricular cardiac muscle cell action potential GO:0086005 9.58 RYR2 PKP2
7 regulation of muscle contraction GO:0006937 9.58 TPM1 TNNT2 TNNI3
8 heart contraction GO:0060047 9.57 TNNI3 ACTC1
9 striated muscle contraction GO:0006941 9.56 TNNI3 MYH7
10 negative regulation of ATPase activity GO:0032780 9.55 TNNT2 TNNI3
11 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.54 TNNI3 RYR2
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.54 RYR2 PKP2 GJA5
13 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.52 PKP2 DSP
14 desmosome organization GO:0002934 9.51 PKP2 DSP
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.5 RYR2 PKP2 DSP
16 regulation of atrial cardiac muscle cell action potential GO:0098910 9.48 RYR2 GJA5
17 regulation of AV node cell action potential GO:0098904 9.46 RYR2 GJA5
18 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.43 TPM1 TNNT2 TNNI3 PKP2 MYH7 MYBPC3
19 cardiac muscle contraction GO:0060048 9.23 TPM1 TNNT2 TNNI3 TAZ RYR2 MYH7

Molecular functions related to Atrial Standstill 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 TTR TPM1 TNNT2 RYR2 MYBPC3 LMNA
2 actin binding GO:0003779 9.55 TPM1 TNNT2 TNNI3 MYH7 MYBPC3
3 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.96 PKP2 DSP
4 troponin C binding GO:0030172 8.62 TNNT2 TNNI3
Sources

Sources for Atrial Standstill 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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