ATRST1
MCID: ATR087
MIFTS: 74

Atrial Standstill 1 (ATRST1)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Atrial Standstill 1

MalaCards integrated aliases for Atrial Standstill 1:

Name: Atrial Standstill 1 57 12 72 29 6 15
Cardiomyopathy 62 39 17 32
Heart Block 44 62 70
Cardiomyopathy, Familial, with Conduction Disturbance 57 70
Atrial Cardiomyopathy with Heart Block 57 72
Cardiomyopathies 44 70
Atrst1 57 72
Familial Cardiomyopathy with Conduction Disturbance 72
Atrial Standstill, Digenic 57
Standstill, Atrial, Type 1 39

Characteristics:

OMIM®:

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


HPO:

31
atrial standstill 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080662
OMIM® 57 108770
UMLS 70 C0018794 C0878544 C1838539

Summaries for Atrial Standstill 1

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 naxos disease, 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-Apr-2021)

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Atrial Standstill 1

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 2200)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block 33.6 TNNT2 RYR2 MYH7 MYBPC3 GJA5 DSP
2 naxos disease 33.0 RYR2 PKP2 DSP
3 cardiomyopathy, familial hypertrophic, 18 32.8 PLN CEP85L
4 cardiomyopathy, dilated, 1dd 32.8 TTN TNNT2 RYR2 RBM20
5 cardiomyopathy, dilated, 1h 32.7 TTN RBM20 MYBPC3 LMNA DSP
6 atrioventricular block 32.6 TTN TNNI3 RYR2 MYH7 LMNA GJA5
7 extrinsic cardiomyopathy 32.3 TTN TNNT2 TNNI3
8 first-degree atrioventricular block 32.2 MYH7 LMNA
9 holt-oram syndrome 32.1 MYH7 LMNA GJA5
10 intrinsic cardiomyopathy 32.1 TTN TNNT2 TNNI3 TAFAZZIN RYR2 RBM20
11 familial woolly hair syndrome 32.1 RYR2 PKP2 DSP
12 syncope 31.9 TTN TNNT2 RYR2
13 congenital fiber-type disproportion 31.8 TTN MYH7 LMNA ACTC1
14 heart septal defect 31.7 TNNT2 GJA5 ACTC1
15 mitochondrial dna depletion syndrome 12b 31.7 TTN RBM20 PRKAG2 MYH7 MYBPC3
16 myocarditis 31.7 TTN TNNI3 DSP
17 arrhythmogenic right ventricular cardiomyopathy 31.7 TTN RYR2 RBM20 PLN PKP2 MYH7
18 left bundle branch hemiblock 31.5 TNNT2 TNNI3 RYR2 PKP2 LMNA DSP
19 restrictive cardiomyopathy 31.4 TTR TTN TNNT2 TNNI3 RBM20 PKP2
20 ventricular fibrillation, paroxysmal familial, 1 31.4 TNNT2 RYR2 DSP
21 atrial heart septal defect 31.2 TTN TNNT2 TNNI3 MYH7 GJA5 ACTC1
22 congestive heart failure 31.2 TTN TNNT2 TNNI3 RYR2 PLN MYH7
23 cardiac arrest 31.2 TTN TNNT2 TNNI3 RYR2 PLN MYH7
24 cardiac conduction defect 31.1 RYR2 MYH7 MYBPC3 LMNA DSP CEP85L
25 sick sinus syndrome 31.1 TTN LMNA GJA5
26 mitral valve insufficiency 31.1 TTN TNNT2 TNNI3 MYH7 MYBPC3
27 tetralogy of fallot 31.1 TNNT2 TNNI3 RYR2 GJA5 ACTC1
28 al amyloidosis 31.1 TTR ACTC1
29 catecholaminergic polymorphic ventricular tachycardia 31.0 TNNT2 RYR2 PKP2 MYH7 MYBPC3 LMNA
30 dilated cardiomyopathy 31.0 TTN TNNT2 TNNI3 TAFAZZIN RYR2 RBM20
31 wolff-parkinson-white syndrome 31.0 TTN TNNT2 TNNI3 PRKAG2 MYH7 MYBPC3
32 subvalvular aortic stenosis 30.9 TNNI3 DSP
33 cardiac arrhythmia 30.9 RYR2 PKP2 DSP
34 arrhythmogenic right ventricular dysplasia, familial, 9 30.9 RYR2 PLN PKP2 LMNA DSP CEP85L
35 myopathy 30.9 TTR TTN TNNT2 TNNI3 TAFAZZIN RYR2
36 arrhythmogenic right ventricular dysplasia, familial, 4 30.9 RYR2 PKP2 DSP
37 arrhythmogenic right ventricular dysplasia, familial, 8 30.9 RYR2 PKP2 DSP
38 arrhythmogenic right ventricular dysplasia, familial, 5 30.9 RYR2 PKP2 DSP
39 heart disease 30.9 TTR TTN TNNT2 TNNI3 TAFAZZIN RYR2
40 arrhythmogenic right ventricular dysplasia, familial, 1 30.8 TTN RYR2 PKP2 MYBPC3 DSP
41 amyloidosis 30.8 TTR TTN TNNT2 TNNI3
42 third-degree atrioventricular block 30.8 TTN GJA5
43 barth syndrome 30.8 TTR TTN TNNT2 TAFAZZIN MYH7 MYBPC3
44 progressive familial heart block, type ia 30.8 GJA5 DSP
45 long qt syndrome 30.8 TTN RYR2 RBM20 PKP2 MYH7 MYBPC3
46 lipoprotein quantitative trait locus 30.8 TTN TNNT2 TNNI3 RYR2 PKP2 MYH7
47 familial isolated dilated cardiomyopathy 30.8 TTN TNNT2 TNNI3 TAFAZZIN RBM20 PLN
48 hypertrophic cardiomyopathy 30.8 TTR TTN TNNT2 TNNI3 TAFAZZIN RYR2
49 mobitz type ii atrioventricular block 30.7 TNNT2 MYH7 LMNA ACTC1
50 hypoplastic left heart syndrome 30.7 TNNT2 TNNI3 GJA5

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

Symptoms & Phenotypes for Atrial Standstill 1

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-Apr-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-Apr-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 10.06 ACTC1 DSP GJA5 GLA LMNA MYBPC3
2 homeostasis/metabolism MP:0005376 9.77 ACTC1 GJA5 GLA LMNA MYBPC3 MYH7
3 muscle MP:0005369 9.47 ACTC1 DSP GJA5 GLA LMNA MYBPC3

Drugs & Therapeutics for Atrial Standstill 1

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 358)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4 107724-20-9 443872 150310
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
Selenious acid Approved, Investigational Phase 4 7783-00-8
6
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
7
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
8
Atorvastatin Approved Phase 4 134523-00-5 60823
9
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
10
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
11
Doxazosin Approved Phase 4 74191-85-8 3157
12
Iron Approved Phase 4 7439-89-6 23925 29936
13
Acetylcarnitine Approved, Investigational Phase 4 3040-38-8 7045767
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, 11128-99-7, 4474-91-3 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 37350-58-6, 51384-51-1 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 Adrenergic alpha-Agonists Phase 4
37 Vasoconstrictor Agents Phase 4
38 Epoetin alfa Phase 4 113427-24-0
39 Hematinics Phase 4
40 Mitogens Phase 4
41 carnitine Phase 4
42 Trace Elements Phase 4
43 Nutrients Phase 4
44 Sodium Selenite Phase 4
45 Micronutrients Phase 4
46 Phosphodiesterase 5 Inhibitors Phase 4
47 insulin Phase 4
48 Insulin, Globin Zinc Phase 4
49 Alpha-lipoic Acid Phase 4
50 Thioctic Acid Phase 4

Interventional clinical trials:

(show top 50) (show all 958)
# 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 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
3 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
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 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Unknown status NCT00879060 Phase 4 spironolactone
10 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
11 Carvedilol for the Prevention of Minor Cardiac Damage and Cardiac Function in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
12 Syncope: Pacing or Recording in the Later Years (SPRITELY) Completed NCT01423994 Phase 4
13 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
14 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
15 A Randomized Trial of Carvedilol After Renin-angiotensin System Inhibition in Chronic Chagas Cardiomyopathy Completed NCT01557140 Phase 4 RASi plus carvedilol
16 Pacing for Cardiomyopathies, a European Study- A Therapy Acceptance Study Completed NCT00180596 Phase 4
17 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
18 Ranolazine in Ischemic Cardiomyopathy Patients With Persistent Chest Pain or Dyspnea Despite Conventional Therapy: A Cross-Over Study Completed NCT01345188 Phase 4 Ranexa;Placebo
19 Ranolazine for the Treatment of Angina in Hypertrophic Cardiomyopathy Investigation Completed NCT01721967 Phase 4 Ranolazine
20 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
21 Efficacy and Safety Study of Supramaximal Titrated Inhibition of RAAS in Idiopathic Dilated Cardiomyopathy Completed NCT01917149 Phase 4 Benazepril;Valsartan;Metoprolol
22 Beta-blocker Effect on Structural Remodeling and Gene Expression in the Failing Human Heart Completed NCT01798992 Phase 4 Carvedilol;Metoprolol succinate;Metoprolol succinate + doxazosin
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 A Randomized Trial of the Effects of Exercise Training in Chagas Cardiomyopathy Completed NCT01006473 Phase 4
25 Statin Induced Augmentation of Circulating Endothelial Progenitor Cells and Myocardial Viability in Patients With Ischemic and Nonischemic Cardiomyopathy Completed NCT00701220 Phase 4 Atorvastatin Calcium
26 Polypharmacy in the Heart Failure Patient: Are All Prescribed Drug Classes Required? Aspirin Withdrawal in Non-ischaemic Cardiomyopathy Study Completed NCT01534026 Phase 4 Aspirin
27 Protective Effects of Spironolactone Against Anthracycline Induced Cardiomyopathy Completed NCT02053974 Phase 4 Spironolactone
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 Phase 4. Study of Cardiac Resynchronization Therapy in Patients With Permanent Atrial Fibrillation. Completed NCT01181414 Phase 4 Beta blocker/digoxine/amiodarone
30 Effect of Aldosterone on Energy Starvation in Heart Failure Completed NCT00574119 Phase 4 spironolactone
31 Analyse Der Unterschiede Zwischen Aktiv-fixierenden Und Passiv-fixierenden Stimulations-Elektroden Hinsichtlich Implantationsdauer Und Elektrischer Parameter Completed NCT00180557 Phase 4
32 The Ontario Multidetector Computed Tomography (MDCT) Coronary Angiography Study (OMCAS) Completed NCT00371891 Phase 4
33 123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging Completed NCT01868841 Phase 4 AdreView
34 Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure Completed NCT01261065 Phase 4 carvedilol
35 Novel Strategy For Perioperative Beta-Blocker Therapy - Pilot Study Completed NCT02746575 Phase 4 metoprolol
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 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
38 Clinical Evaluation on Advanced Resynchronization Completed NCT00658203 Phase 4
39 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
40 Pulse Reduction On Beta-blocker and Ivabradine Therapy Recruiting NCT02973594 Phase 4 Ivabradine;Placebo
41 The Effects of SGLT Inhibition on Diabetic Cardiomyopathy Recruiting NCT04200586 Phase 4 Dapagliflozin
42 Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy Recruiting NCT04133532 Phase 4 Metoprolol
43 Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS): A Pilot Study Recruiting NCT03228823 Phase 4 Amiodarone (Antiarrhythmic drug)
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 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
46 A Study to Characterize the Safety and Efficacy of Tafamidis Once Daily in The Treatment of Transthyretin Amyloid Cardiomyopathy in Chinese Participants Not yet recruiting NCT04814186 Phase 4 Tafamidis
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 70 / 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

Genetic Tests for Atrial Standstill 1

Genetic tests related to Atrial Standstill 1:

# Genetic test Affiliating Genes
1 Atrial Standstill 1 29 GJA5

Anatomical Context for Atrial Standstill 1

MalaCards organs/tissues related to Atrial Standstill 1:

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

Publications for Atrial Standstill 1

Articles related to Atrial Standstill 1:

(show top 50) (show all 30374)
# Title Authors PMID Year
1
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. 6 61 54
16917092 2006
2
Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 54 6 61
15673802 2005
3
Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy. 6 61
32163302 2020
4
Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy. 6 61
32396390 2020
5
Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy. 6 61
31638223 2019
6
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy. 6 61
29517769 2018
7
Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy. 61 6
30025578 2018
8
Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy. 6 61
30022097 2018
9
Co-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy. 61 6
28699631 2017
10
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. 61 6
28630369 2017
11
Penetrance of Hypertrophic Cardiomyopathy in Children Who Are Mutation Positive. 6 61
28396031 2017
12
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 6 61
28790153 2017
13
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes. 61 6
28606303 2017
14
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 61 6
27532257 2017
15
Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study. 61 6
27737317 2016
16
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing. 61 6
27662471 2016
17
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 61 6
25611685 2015
18
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 61 6
23299917 2013
19
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 61 6
23785128 2013
20
Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families. 6 61
23054336 2013
21
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. 61 6
22820313 2012
22
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 6 61
20800588 2010
23
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. 61 6
20041886 2010
24
A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation. 61 6
20394946 2010
25
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 61 6
20160190 2010
26
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 61 6
20129281 2010
27
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 61 6
18585512 2008
28
Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. 6 61
18029407 2008
29
Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. 61 6
18076673 2008
30
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 6 61
16432188 2006
31
Familial atrial standstill in association with dilated cardiomyopathy. 57 61
16176547 2005
32
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. 6 54
12015247 2002
33
Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. 6 61
10882745 2000
34
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation. 6
29024827 2018
35
Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects. 6
28359939 2017
36
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 6
28152038 2017
37
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 6
27799064 2016
38
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. 6
27435932 2016
39
Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation. 6
27177193 2016
40
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic. 6
26743238 2016
41
Hypertrophy of lymphoid organs is a possible phenotypic characteristic of R420W mutation of the cardiac ryanodine receptor gene: a study using a knock-in mouse model. 6
25087098 2014
42
A knock-in mouse model of N-terminal R420W mutation of cardiac ryanodine receptor exhibits arrhythmogenesis with abnormal calcium dynamics in cardiomyocytes. 6
25193700 2014
43
Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish. 6
23992123 2014
44
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 6
23183350 2013
45
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. 6
23103869 2012
46
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. 6
22787013 2012
47
Mortality of inherited arrhythmia syndromes: insight into their natural history. 6
22373669 2012
48
Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies. 6
22374134 2012
49
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. 6
19924139 2010
50
Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms. 57
16188595 2005

Variations for Atrial Standstill 1

ClinVar genetic disease variations for Atrial Standstill 1:

6 (show top 50) (show all 9944)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UQCRFS1 NM_006003.3(UQCRFS1):c.215-1G>C SNV Pathogenic 619297 rs1568344751 GRCh37: 19:29699066-29699066
GRCh38: 19:29208159-29208159
2 UQCRFS1 NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) SNV Pathogenic 619499 rs1242465339 GRCh37: 19:29698670-29698670
GRCh38: 19:29207763-29207763
3 UQCRFS1 NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) SNV Pathogenic 619501 rs1568346416 GRCh37: 19:29703985-29703985
GRCh38: 19:29213078-29213078
4 DSP NM_004415.4(DSP):c.2725C>T (p.Gln909Ter) SNV Pathogenic 577561 rs1561694696 GRCh37: 6:7576621-7576621
GRCh38: 6:7576388-7576388
5 PKP2 NM_001005242.3(PKP2):c.1369C>T (p.Gln457Ter) SNV Pathogenic 927629 GRCh37: 12:33003709-33003709
GRCh38: 12:32850775-32850775
6 LMNA NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) SNV Pathogenic 66868 rs56793579 GRCh37: 1:156084893-156084893
GRCh38: 1:156115102-156115102
7 LMNA NM_170707.4(LMNA):c.1296_1299GCAC[4] (p.Ser437fs) Microsatellite Pathogenic 66803 rs267607577 GRCh37: 1:156106142-156106143
GRCh38: 1:156136351-156136352
8 TTN-AS1 , TTN NM_001267550.2(TTN):c.47961del (p.Gly15988fs) Deletion Pathogenic 523430 rs1553707780 GRCh37: 2:179481655-179481655
GRCh38: 2:178616928-178616928
9 TTN-AS1 , TTN NM_001267550.2(TTN):c.51739+1G>C SNV Pathogenic 179336 rs727504799 GRCh37: 2:179474410-179474410
GRCh38: 2:178609683-178609683
10 DSP NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) Deletion Pathogenic 464963 rs1554108287 GRCh37: 6:7580728-7580732
GRCh38: 6:7580495-7580499
11 TNNT2 NM_001276345.2(TNNT2):c.844dup (p.Gln282fs) Duplication Pathogenic 181639 rs730881119 GRCh37: 1:201328757-201328758
GRCh38: 1:201359629-201359630
12 LAMP2 NM_013995.2(LAMP2):c.584_588dup (p.Val197fs) Duplication Pathogenic 180887 rs730880492 GRCh37: X:119581848-119581849
GRCh38: X:120447993-120447994
13 TTN-AS1 , TTN NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) SNV Pathogenic 132133 rs869320740 GRCh37: 2:179410829-179410829
GRCh38: 2:178546102-178546102
14 TTN-AS1 , TTN NM_001267550.2(TTN):c.91839dup (p.Val30614fs) Duplication Pathogenic 179692 rs730880365 GRCh37: 2:179414725-179414726
GRCh38: 2:178549998-178549999
15 TTN-AS1 , TTN NM_001267550.2(TTN):c.86821+2T>A SNV Pathogenic 47458 rs397517735 GRCh37: 2:179424036-179424036
GRCh38: 2:178559309-178559309
16 TTN-AS1 , TTN NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs) Deletion Pathogenic 202482 rs794729354 GRCh37: 2:179424468-179424472
GRCh38: 2:178559741-178559745
17 CEP85L , PLN NM_002667.5(PLN):c.25C>T (p.Arg9Cys) SNV Pathogenic 13636 rs111033559 GRCh37: 6:118880109-118880109
GRCh38: 6:118558946-118558946
18 PRKAG2 NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) SNV Pathogenic 6846 rs121908987 GRCh37: 7:151273498-151273498
GRCh38: 7:151576412-151576412
19 TTN-AS1 , TTN NM_001267550.2(TTN):c.97492+1G>C SNV Pathogenic 180058 rs727505319 GRCh37: 2:179406990-179406990
GRCh38: 2:178542263-178542263
20 TTN-AS1 , TTN NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) SNV Pathogenic 165869 rs371678190 GRCh37: 2:179442793-179442793
GRCh38: 2:178578066-178578066
21 TNNI3 NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) SNV Pathogenic 43395 rs397516357 GRCh37: 19:55663278-55663278
GRCh38: 19:55151910-55151910
22 MYH7 NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) SNV Pathogenic 43098 rs45516091 GRCh37: 14:23900817-23900817
GRCh38: 14:23431608-23431608
23 TTR NM_000371.4(TTR):c.238A>G (p.Thr80Ala) SNV Pathogenic 13421 rs121918070 GRCh37: 18:29175120-29175120
GRCh38: 18:31595157-31595157
24 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) SNV Pathogenic 14088 rs3218713 GRCh37: 14:23900677-23900677
GRCh38: 14:23431468-23431468
25 PKP2 NM_004572.3(PKP2):c.1171-2A>G SNV Pathogenic 202030 rs794729133 GRCh37: 12:33003909-33003909
GRCh38: 12:32850975-32850975
26 MYH7 NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) SNV Pathogenic 42890 rs121913632 GRCh37: 14:23894969-23894969
GRCh38: 14:23425760-23425760
27 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) SNV Pathogenic 42874 rs397516127 GRCh37: 14:23896043-23896043
GRCh38: 14:23426834-23426834
28 LMNA NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) SNV Pathogenic 48074 rs60682848 GRCh37: 1:156104629-156104629
GRCh38: 1:156134838-156134838
29 TTN-AS1 , TTN NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) Duplication Pathogenic 519013 rs1285329277 GRCh37: 2:179424782-179424783
GRCh38: 2:178560055-178560056
30 TPM1 NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) SNV Pathogenic 12456 rs104894503 GRCh37: 15:63353098-63353098
GRCh38: 15:63060899-63060899
31 TNNI3 NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) SNV Pathogenic 43388 rs397516353 GRCh37: 19:55665477-55665477
GRCh38: 19:55154109-55154109
32 TNNI3 NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) SNV Pathogenic 12426 rs104894724 GRCh37: 19:55665514-55665514
GRCh38: 19:55154146-55154146
33 TTN-AS1 , TTN NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) SNV Pathogenic 202377 rs751502842 GRCh37: 2:179477169-179477169
GRCh38: 2:178612442-178612442
34 TNNT2 NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) SNV Pathogenic 177636 rs727504247 GRCh37: 1:201328345-201328345
GRCh38: 1:201359217-201359217
35 DSP NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) SNV Pathogenic 180326 rs730880082 GRCh37: 6:7577219-7577219
GRCh38: 6:7576986-7576986
36 TNNT2 NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) SNV Pathogenic 12408 rs121964855 GRCh37: 1:201334766-201334766
GRCh38: 1:201365638-201365638
37 PKP2 NM_001005242.3(PKP2):c.2357+1G>A SNV Pathogenic 6757 rs111517471 GRCh37: 12:32949042-32949042
GRCh38: 12:32796108-32796108
38 PKP2 NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) Indel Pathogenic 45063 rs397517021 GRCh37: 12:32955434-32955439
GRCh38: 12:32802500-32802505
39 DSP NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) SNV Pathogenic 199855 rs149701627 GRCh37: 6:7565702-7565702
GRCh38: 6:7565469-7565469
40 PKP2 NM_004572.3(PKP2):c.368G>A (p.Trp123Ter) SNV Pathogenic 196395 rs760576804 GRCh37: 12:33031446-33031446
GRCh38: 12:32878512-32878512
41 PKP2 NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) SNV Pathogenic 45010 rs397516986 GRCh37: 12:33021899-33021899
GRCh38: 12:32868965-32868965
42 TMEM43 NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) SNV Pathogenic 734 rs63750743 GRCh37: 3:14183165-14183165
GRCh38: 3:14141665-14141665
43 PKP2 NM_004572.3(PKP2):c.2013del (p.Lys672fs) Deletion Pathogenic 202022 rs764817683 GRCh37: 12:32974422-32974422
GRCh38: 12:32821488-32821488
44 DSP NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) SNV Pathogenic 44914 rs397516940 GRCh37: 6:7580954-7580954
GRCh38: 6:7580721-7580721
45 DSP NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) SNV Pathogenic 405247 rs746877365 GRCh37: 6:7579760-7579760
GRCh38: 6:7579527-7579527
46 DSP NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) SNV Pathogenic 222582 rs869025395 GRCh37: 6:7583346-7583346
GRCh38: 6:7583113-7583113
47 TTN-AS1 , TTN NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) SNV Pathogenic 265437 rs869038795 GRCh37: 2:179429822-179429822
GRCh38: 2:178565095-178565095
48 RYR2 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) SNV Pathogenic 201214 rs190140598 GRCh37: 1:237608788-237608788
GRCh38: 1:237445488-237445488
49 PKP2 NM_001005242.2(PKP2):c.2377del (p.Ser793fs) Deletion Pathogenic 177995 rs727504432 GRCh37: 12:32945646-32945646
GRCh38: 12:32792712-32792712
50 PKP2 NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) SNV Pathogenic 6754 rs121434420 GRCh37: 12:33031955-33031955
GRCh38: 12:32879021-32879021

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

72
# 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

Expression for Atrial Standstill 1

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

Pathways for Atrial Standstill 1

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.57 TTN TNNT2 TNNI3 RYR2 PLN MYBPC3
2
Show member pathways
12.3 TNNT2 TNNI3 RYR2 PLN MYH7 ACTC1
3
Show member pathways
12.27 RYR2 PLN GJA5 ACTC1
4 12.25 TNNT2 TNNI3 LMNA ACTC1
5 11.89 RYR2 PKP2 LMNA DSP
6 11.59 TNNT2 TNNI3 RYR2 MYH7 ACTC1
7
Show member pathways
11.59 TTN TNNT2 TNNI3 RYR2 PRKAG2 PLN
8 11.41 TTN TNNT2 TNNI3 MYBPC3 ACTC1
9 11.33 TNNT2 TNNI3 ACTC1
10 11.1 RYR2 PLN LMNA GJA5 DSP

GO Terms for Atrial Standstill 1

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.63 TTN RYR2 MYH7
2 intercalated disc GO:0014704 9.5 PKP2 GJA5 DSP
3 myosin filament GO:0032982 9.43 MYH7 MYBPC3
4 myofibril GO:0030016 9.43 TNNT2 TNNI3 MYH7
5 striated muscle thin filament GO:0005865 9.4 TTN TNNT2
6 troponin complex GO:0005861 9.37 TNNT2 TNNI3
7 cardiac Troponin complex GO:1990584 9.16 TNNT2 TNNI3
8 cardiac myofibril GO:0097512 9.13 TNNT2 TNNI3 MYBPC3
9 sarcomere GO:0030017 9.1 TNNT2 TNNI3 RYR2 MYH7 MYBPC3 ACTC1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.85 TNNI3 TAFAZZIN RBM20 PKP2 GJA5
2 cellular calcium ion homeostasis GO:0006874 9.77 TNNI3 RYR2 PLN
3 muscle contraction GO:0006936 9.65 TTN TNNT2 TNNI3 TAFAZZIN MYH7
4 cardiac muscle tissue development GO:0048738 9.62 TAFAZZIN PLN
5 regulation of the force of heart contraction GO:0002026 9.61 PLN MYH7
6 regulation of muscle contraction GO:0006937 9.61 TNNT2 TNNI3
7 striated muscle contraction GO:0006941 9.61 TTN TNNI3 MYH7
8 ventricular cardiac muscle cell action potential GO:0086005 9.6 RYR2 PKP2
9 heart contraction GO:0060047 9.58 TNNI3 ACTC1
10 cardiac muscle tissue morphogenesis GO:0055008 9.58 TTN ACTC1
11 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.58 RYR2 PKP2 GJA5
12 cardiac myofibril assembly GO:0055003 9.57 TTN ACTC1
13 cardiac muscle hypertrophy GO:0003300 9.56 TTN RYR2
14 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.55 TNNI3 RYR2
15 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.55 TNNT2 TNNI3 PKP2 MYH7 MYBPC3
16 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.54 PKP2 DSP
17 negative regulation of ATPase activity GO:0032780 9.54 TNNT2 TNNI3 PLN
18 skeletal muscle thin filament assembly GO:0030240 9.52 TTN ACTC1
19 desmosome organization GO:0002934 9.51 PKP2 DSP
20 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.5 RYR2 PKP2 DSP
21 regulation of atrial cardiac muscle cell action potential GO:0098910 9.49 RYR2 GJA5
22 regulation of AV node cell action potential GO:0098904 9.48 RYR2 GJA5
23 muscle filament sliding GO:0030049 9.43 TTN TNNT2 TNNI3 MYH7 MYBPC3 ACTC1
24 cardiac muscle contraction GO:0060048 9.23 TTN TNNT2 TNNI3 TAFAZZIN RYR2 MYH7

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.96 PKP2 DSP
2 troponin C binding GO:0030172 8.62 TNNT2 TNNI3

Sources for Atrial Standstill 1

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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