CCDD
MCID: CRD178
MIFTS: 42

Cardiac Conduction Disease with or Without Dilated Cardiomyopathy (CCDD)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiac Conduction Disease with or Without Dilated...

MalaCards integrated aliases for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

Name: Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 56 73 29 6 39 71
Ccdd 56 73
Familial Atrial Tachyarrhythmia-Infra-Hisian Cardiac Conduction Disease 58
Arrhythmias, Cardiac 43

Characteristics:

Orphanet epidemiological data:

58
familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset of arrhythmias in first decade of life
dilated cardiomyopathy can occur as early as second decade of life
early sudden death may occur (1.5 years, 16 years, and 13 years reported in some patients)


HPO:

31
cardiac conduction disease with or without dilated cardiomyopathy:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiac Conduction Disease with or Without Dilated...

UniProtKB/Swiss-Prot : 73 Cardiac conduction disease with or without dilated cardiomyopathy: A cardiac disorder characterized by atrial tachyarrhythmia and conduction system disease. Some patients have dilated cardiomyopathy.

MalaCards based summary : Cardiac Conduction Disease with or Without Dilated Cardiomyopathy, also known as ccdd, is related to cardiac arrhythmia and ptosis. An important gene associated with Cardiac Conduction Disease with or Without Dilated Cardiomyopathy is TNNI3K (TNNI3 Interacting Kinase). The drugs Procainamide and Ajmaline have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and testes, and related phenotypes are congestive heart failure and cardiac arrest

More information from OMIM: 616117

Related Diseases for Cardiac Conduction Disease with or Without Dilated...

Diseases related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 cardiac arrhythmia 12.2
2 ptosis 10.4
3 duane retraction syndrome 1 10.3
4 tukel syndrome 10.3
5 congenital ptosis 10.3
6 cardiac conduction defect 10.3
7 ventricular fibrillation, paroxysmal familial, 1 10.2
8 long qt syndrome 10.2
9 brown's tendon sheath syndrome 10.2
10 ocular motility disease 10.2
11 brugada syndrome 10.2
12 atrioventricular block 10.1
13 moebius syndrome 10.1
14 strabismus 10.1
15 kearns-sayre syndrome 10.1
16 scoliosis 10.1
17 paralytic squint 10.1
18 duane retraction syndrome 10.1
19 facial paralysis 10.1
20 eye disease 10.1
21 mechanical strabismus 10.1
22 horizontal gaze palsy with progressive scoliosis 10.1
23 isolated duane retraction syndrome 10.1
24 wolff-parkinson-white syndrome 10.1
25 cardiac arrest 10.1
26 syncope 10.1
27 dilated cardiomyopathy 10.0
28 sick sinus syndrome 10.0
29 atrial standstill 1 9.9
30 progressive familial heart block, type ia 9.9
31 cardiac sarcoidosis 9.9
32 lipomatosis, multiple 9.8
33 hypokalemic periodic paralysis, type 1 9.8
34 sarcoidosis 1 9.8
35 tetralogy of fallot 9.8
36 orthostatic intolerance 9.8
37 coronary heart disease 1 9.8
38 myocardial infarction 9.8
39 atrial fibrillation, familial, 10 9.8
40 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.8
41 hypophosphatemia 9.8
42 arrhythmogenic right ventricular cardiomyopathy 9.8
43 short qt syndrome 9.8
44 second-degree atrioventricular block 9.8
45 atrial fibrillation 9.8
46 pleomorphic lipoma 9.8
47 primary hyperparathyroidism 9.8
48 heart disease 9.8
49 hemopericardium 9.8
50 pericardial effusion 9.8

Graphical network of the top 20 diseases related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:



Diseases related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy

Symptoms & Phenotypes for Cardiac Conduction Disease with or Without Dilated...

Human phenotypes related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 occasional (7.5%) HP:0001635
2 cardiac arrest 31 very rare (1%) HP:0001695
3 dilated cardiomyopathy 31 HP:0001644
4 atrial fibrillation 31 HP:0005110
5 right bundle branch block 31 HP:0011712
6 ventricular extrasystoles 31 HP:0006682
7 prolonged qtc interval 31 HP:0005184
8 atrial flutter 31 HP:0004749
9 left anterior fascicular block 31 HP:0011711
10 atrial arrhythmia 31 HP:0001692
11 sinus bradycardia 31 HP:0001688
12 paroxysmal supraventricular tachycardia 31 HP:0004763

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
atrial fibrillation
right bundle branch block
prolonged qtc interval
atrial flutter
left anterior fascicular block
more

Clinical features from OMIM:

616117

Drugs & Therapeutics for Cardiac Conduction Disease with or Without Dilated...

Drugs for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 258)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Procainamide Approved Phase 4 51-06-9 4913
2
Ajmaline Approved, Experimental Phase 4 4360-12-7 441080
3
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
4
Racepinephrine Approved Phase 4 329-65-7 838
5
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
6
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
8
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
9
Fosphenytoin Approved, Investigational Phase 4 93390-81-9 56339
10
Levetiracetam Approved Phase 4 102767-28-2 441341
11
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
12
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
13
Carbetocin Approved, Investigational Phase 4 37025-55-1 71715 16681432
14
Empagliflozin Approved Phase 4 864070-44-0
15
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
16
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
17
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
18
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
19
Polyestradiol phosphate Approved Phase 4 28014-46-2
20
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
21 Lorajmine Experimental Phase 4 47562-08-3
22 Narcotics Phase 4
23 Analgesics, Opioid Phase 4
24 Adjuvants, Anesthesia Phase 4
25 Anesthetics, General Phase 4
26 Anesthetics, Intravenous Phase 4
27 Analgesics Phase 4
28 Epinephryl borate Phase 4
29 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
30 Nootropic Agents Phase 4
31 Anticonvulsants Phase 4
32 Oxytocics Phase 4
33 Anticoagulants Phase 4
34 Sympatholytics Phase 4
35 Sodium-Glucose Transporter 2 Inhibitors Phase 4
36 Anti-Infective Agents Phase 4
37 Anti-Bacterial Agents Phase 4
38 Norgestimate, ethinyl estradiol drug combination Phase 4
39 Estradiol 17 beta-cypionate Phase 4
40 Contraceptive Agents Phase 4
41 Topoisomerase Inhibitors Phase 4
42 Contraceptives, Oral, Combined Phase 4
43 Contraceptives, Oral Phase 4
44 Estradiol 3-benzoate Phase 4
45
Colchicine Approved Phase 3 64-86-8 6167 2833
46
Rivaroxaban Approved Phase 3 366789-02-8
47
Apixaban Approved Phase 3 503612-47-3 10182969
48
Edoxaban Approved Phase 3 480449-70-5
49
Thrombin Approved, Investigational Phase 3
50
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594

Interventional clinical trials:

(show top 50) (show all 264)
# Name Status NCT ID Phase Drugs
1 Comparison of Enteral Versus Intravenous Potassium Supplementation in Hypokalemia in Post Cardiac Surgery Pediatric Cardiac Intensive Care Patients - Prospective Open Label Randomized Control Trial Unknown status NCT02015962 Phase 4 Intravenous potassium chloride;Oral potassium chloride
2 Ajmaline Utilization in the Diagnosis and Treatment of Cardiac Arrhythmias Completed NCT00702117 Phase 4 flecainide;ajmaline;procainamide
3 Reveal® XT Performance Trial Completed NCT00680927 Phase 4
4 Atrial Fibrillation Progression Trial Completed NCT01570361 Phase 4 Drug Treatment
5 Evaluation of Cardiac Arrhythmias in Patients Undergoing Kidney Cancer Surgery Depending on the Anaesthesia Method Completed NCT02988219 Phase 4 Bupivacaine-fentanyl
6 Hemodynamic and Electrocardiographic Effects of Hyaluronidase Associated With Local Anaesthetics: a Double-blind "Split-mouth" Controlled Trial. Completed NCT01719978 Phase 4 3.6mL 2% Mepivacaine with 1:100,000 epinephrine;Hyaluronidase;Placebo
7 Monitoring of Fluid Status in Heart Failure Patients by Intrathoracic Impedance Measurement in Japan Completed NCT01221649 Phase 4
8 IV Keppra in the Emergency Department for Prevention of Early Recurrent Seizures Completed NCT00510783 Phase 4 Keppra;Fosphenytoin;Dilantin
9 Monitoring of Fluid Status in Heart Failure Patients by Intrathoracic Impedance Measurement Completed NCT00711360 Phase 4
10 Assessing the Safety of a Continuous Potassium Chloride Infusion in Critical Care: A Randomised Controlled Trial Completed NCT00718068 Phase 4 Sterile Potassium Chloride Concentrate;Sterile Potassium Chloride Concentrate
11 Post-Surgical Enhanced Monitoring for Cardiac Arrhythmias and Atrial Fibrillation Recruiting NCT04145648 Phase 4
12 The Effect of Carbetocin Dose on Dispersion of Myocardial Repolarization in Healthy Parturients Scheduled for Elective Cesarean Delivery Under Spinal Anesthesia Recruiting NCT03716076 Phase 4 Carbetocin
13 Isolation of Pulmonary Veins With PVAC GOLD in Elderly Patients Recruiting NCT04023461 Phase 4
14 Effect of EMPAgliflozin on The HeterogeneitY of Ventricular Repolarization in Patients With Diabetes and Coronary HEART Disease. Recruiting NCT04117763 Phase 4 Empagliflozin 25 MG
15 Rate Control in Atrial Fibrillation II Recruiting NCT02695992 Phase 4 Metoprolol;Diltiazem
16 Detection of Silent Atrial Fibrillation aFter Ischemic StrOke (SAFFO) Guided by Implantable Loop Recorder. Multicentre Italian Trial Based on Stroke Unit Network With Paired Cardio-Arrhythmology Units (Italian Neurocardiology Unit Network) Recruiting NCT02684825 Phase 4
17 Genetics of QT Response to Moxifloxacin Enrolling by invitation NCT01936480 Phase 4 Moxifloxacin 400mg once time;Placebo
18 Catheter Ablation of Arrhythmias to Improve CRT Response Terminated NCT03035227 Phase 4 Anti-Arrhythmics
19 Remote Interrogation of Implantable Cardiac Devices in Rural Emergency Departments Withdrawn NCT02421549 Phase 4
20 Vest Prevention of Early Sudden Death and PREDiction of ICD Therapies Unknown status NCT00628966 Phase 3
21 Influence of a Specific Micronutrient Combination on Symptom Awareness and Heart Rhythm in Patients With Cardiac Arrhythmia Completed NCT02652338 Phase 3
22 Effects of Supplementation With Algal Triacylglycerols Versus Placebo on Heart Rate Variability in Elderly Patients Completed NCT00749307 Phase 2, Phase 3
23 PILOT STUDY for the Tight K TRIAL. Arrhythmias on the Cardiac Intensive Care Unit - Does Maintenance of High-normal Serum Potassium Levels Matter? Completed NCT03195647 Phase 3 Potassium
24 A Prospective, Randomized, Double-Blind, Parallel-Group, Multicenter, Non-inferiority Study Comparing the Efficacy and Safety of Rivaroxaban (BAY 59-7939) With Warfarin for the Prevention of Stroke and Non-Central Nervous System Systemic Embolism in Subjects With Non-Valvular Atrial Fibrillation Completed NCT00403767 Phase 3 Rivaroxaban;Warfarin;Matching placebo for Rivaroxaban arm (Warfarin placebo);Matching placebo for Warfarin arm (Rivaroxaban placebo)
25 Targeting Inflammation in Atrial Fibrillation to Prevent Ischemic Stroke: A Feasibility Study Evaluating the Effect of Colchicine on D-dimer and Hs-CRP in Anticoagulated Patients With Atrial Fibrillation Recruiting NCT02282098 Phase 3 Colchicine;Placebo
26 PREvention of STroke in Intracerebral haemorrhaGE Survivors With Atrial Fibrillation (PRESTIGE-AF) Recruiting NCT03996772 Phase 3 Apixaban Oral Tablet;Dabigatran;Edoxaban Tablets;Rivaroxaban
27 The TIGHT-K STUDY. Prevention of Dysrhythmias on the Cardiac Intensive Care Unit - Does Maintenance of High-normal Serum Potassium Levels Matter Not yet recruiting NCT04053816 Phase 3 Potassium
28 Phase 3 Multi-Center, Randomized, Double-Blind, Placebo-Controlled Study of the Effects of Once Daily Oral Doses of 75 mg Azimilide Dihydrochloride on the Incidence of Cardiovascular Hospitalizations/Emergency Department Visits or Cardiovascular Death in Patients With an Implantable Cardioverter Defibrillator Terminated NCT01464476 Phase 3 Azimilide Dihydrochloride;Placebo
29 An Open-Label Randomized Control Trial of Pre-Operative Low Molecular Weight Heparin Versus Tapered Warfarin as Bridging Therapy for Patients With Implantation of Pacemaker or Defibrillator Terminated NCT02094157 Phase 3 Tapered warfarin regimen;Bridged regimen Low-molecular-weight heparin
30 Ablation Versus Medical Therapy in Patients With Coronary Artery Disease and Sustained Ventricular Tachycardia Randomized Trial (VeTAMed) Withdrawn NCT01798277 Phase 3 Medical therapy (sotalol or amiodarone)
31 Effect of Ascorbic Acid on the Incidence of Post-operative Atrial Fibrillation in Patients Undergoing Cardiac Surgery Withdrawn NCT01580683 Phase 3 Ascorbic Acid
32 Feasibility Clinical Investigation of a Minimally Invasive Surgically Deployed AtriCure AtriClip Left Atrial Appendage Exclusion System for Stroke Prophylaxis in Patients With Non-Valvular Atrial Fibrillation and in Whom Long Term Oral Anticoagulation Therapy is Medically Contraindicated Completed NCT01997905 Phase 1, Phase 2
33 An International, Multicentre, Randomised, Open, Controlled, Two-parallel Group, Phase II Pilot Study to Evaluate the Efficacy and Safety of ARIXTRA™ for Anticoagulation of Patients With Atrial Fibrillation Undergoing Electric Cardioversion Following Transesophageal Echocardiography Completed NCT00911300 Phase 2 fondaparinux;unfractionated heparin;Vitamin-K-Antagonist
34 Phase I/II Study of BNC105P in Combination With Everolimus or Following Everolimus For Progressive Metastatic Clear Cell Renal Cell Carcinoma Following Prior Tyrosine Kinase Inhibitors Completed NCT01034631 Phase 1, Phase 2 Everolimus;BNC105P
35 A Randomised, Double-blind, Double-dummy, Placebo-controlled, Dose-ranging Phase II Study Assessing Ranolazine in the Maintenance of Sinus Rhythm After Electrical Cardioversion in Patients With Non-permanent Atrial Fibrillation. Completed NCT01534962 Phase 2 Ranolazine;Ranolazine;Ranolazine;Placebo
36 Sleep in Cardiac Patients With Implantable Cardioverter Defibrillators (ICD) Completed NCT02232204 Phase 2
37 Evaluation of PET/MR in Patients Selected for Ablation Therapy Recruiting NCT03265431 Phase 2 18F-TPP
38 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias: an Investigator Initiated Trial Recruiting NCT02856373 Phase 2
39 Safety and Efficacy Study Investigating the Effects of Catheter-based Renal Denervation on Different Organ Systems in Patients With Increased Sympathetic Activity Recruiting NCT01888315 Phase 1, Phase 2
40 Cardiac Arrhythmia Catheter Ablation Procedures Guided by x-Ray Imaging: N-Acetylcysteine Protection Against Radiation Induced Cellular damagE (CARAPACE Study) Not yet recruiting NCT04154982 Phase 2 Acetyl cysteine
41 Prevention of Postoperative Cardiac Arrythmias in Thoracic Surgery : Celiprolol Versus Diltiazem Not yet recruiting NCT03752931 Phase 2 Celiprolol;Diltiazem
42 Clinical Evaluation of the CARTO™ XP EP Navigation System v9 and Biosense Webster SOUNDSTAR 3D Diagnostic Ultrasound. A Feasibility Study Withdrawn NCT00449085 Phase 2
43 STTR Phase II : Skin Sympathetic Nerve Activity and Cardiac Arrhythmias Withdrawn NCT02939469 Phase 2
44 Cardiac Autonomic Regulation Enhancement Through Exercise Trial Completed NCT00845091 Phase 1
45 A Phase 1, Open-Label, Crossover Study to Demonstrate the Bioequivalence of RYTHMOL SR® (Propafenone Hydrochloride) Manufactured at Two Different Sites Completed NCT01956487 Phase 1 Propafenone
46 Observational Study of the Sleuth Implantable ECG Monitoring System Unknown status NCT00717106
47 CANadian Clinical Evaluation of the Automatic Arrhythmia DETECTion in SpiderFlash™ Device Unknown status NCT01218763
48 Effects of Endurance Training on Patients With Reduced LVEF and Cardiac Resynchronisation Therapy Especially for Cardiac Arrhythmias Unknown status NCT00472238
49 Same Day Discharge Unknown status NCT02943512
50 European Pediatric Catheter Ablation Registry Unknown status NCT01691573

Search NIH Clinical Center for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy

Cochrane evidence based reviews: arrhythmias, cardiac

Genetic Tests for Cardiac Conduction Disease with or Without Dilated...

Genetic tests related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

# Genetic test Affiliating Genes
1 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 29 TNNI3K

Anatomical Context for Cardiac Conduction Disease with or Without Dilated...

MalaCards organs/tissues related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

40
Heart, Kidney, Testes, Skin, Brain, Lung, Colon

Publications for Cardiac Conduction Disease with or Without Dilated...

Articles related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

(show top 50) (show all 92)
# Title Authors PMID Year
1
Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys). 56 6
30010057 2019
2
Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease. 56 6
29355681 2018
3
Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia. 56 6
25791106 2015
4
TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. 56 6
24925317 2014
5
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
6
Preliminary evaluation of the VIsion PERformance (VIPER) simulator. 61
31941553 2020
7
Roles of Collagen XXV and Its Putative Receptors PTPσ/δ in Intramuscular Motor Innervation and Congenital Cranial Dysinnervation Disorder. 61
31875546 2019
8
A new deep learning model for assisted diagnosis on electrocardiogram. 61
31137223 2019
9
Marcus Gunn Jaw-Winking Syndrome Associated with Morning Glory Disc Anomaly. 61
31114123 2019
10
The instruments used by the Italian centres for cognitive disorders and dementia to diagnose mild cognitive impairment (MCI). 61
30178442 2019
11
Protocadherin-Mediated Cell Repulsion Controls the Central Topography and Efferent Projections of the Abducens Nucleus. 61
30089266 2018
12
Use of neuropsychological tests for the diagnosis of dementia: a survey of Italian memory clinics. 61
29599390 2018
13
Newly Identified Wild Rice Accessions Conferring High Salt Tolerance Might Use a Tissue Tolerance Mechanism in Leaf. 61
29740456 2018
14
Ophthalmoplegia and Congenital Cranial Dysinnervation Disorders. 61
30196776 2018
15
Congenital cranial dysinnervation disorders. 61
27837354 2017
16
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. 61
29016863 2017
17
Premature ventricular contraction detection combining deep neural networks and rules inference. 61
28662816 2017
18
Chromosomal distribution patterns of the (AC)10 microsatellite and other repetitive sequences, and their use in chromosome rearrangement analysis of species of the genus Avena. 61
28156137 2017
19
Congenital Cranial Dysinnervation Disorders: A Literature Review. 61
28904220 2017
20
Hybrid weakness in a rice interspecific hybrid is nitrogen-dependent, and accompanied by changes in gene expression at both total transcript level and parental allele partitioning. 61
28248994 2017
21
Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1. 61
27663630 2016
22
Complete chloroplast genomes of Aegilops tauschii Coss. and Ae. cylindrica Host sheds light on plasmon D evolution. 61
26923563 2016
23
The Electronic Patient Reported Outcome Tool: Testing Usability and Feasibility of a Mobile App and Portal to Support Care for Patients With Complex Chronic Disease and Disability in Primary Care Settings. 61
27256035 2016
24
Improving Patient Experience and Primary Care Quality for Patients With Complex Chronic Disease Using the Electronic Patient-Reported Outcomes Tool: Adopting Qualitative Methods Into a User-Centered Design Approach. 61
26892952 2016
25
The congenital cranial dysinnervation disorders. 61
25633065 2015
26
Considerations on the etiology of congenital Brown syndrome. 61
26163776 2015
27
[Congenital cranial dysinnervation disorders (CCDD)]. 61
25803556 2015
28
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. 61
25500261 2015
29
CCDD Phenotype Associated with a Small Chromosome 2 Deletion. 61
24475916 2015
30
Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction. 61
25581513 2015
31
Tying eHealth Tools to Patient Needs: Exploring the Use of eHealth for Community-Dwelling Patients With Complex Chronic Disease and Disability. 61
25428028 2014
32
Independent allopolyploidization events preceded speciation in the temperate and tropical woody bamboos. 61
25103958 2014
33
Molecular analysis of Oryza latifolia Desv. (CCDD genome)-derived introgression lines and identification of value-added traits for rice (O. sativa L.) improvement. 61
24939891 2014
34
The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder. 61
25173900 2014
35
Rice MtN3/saliva/SWEET gene family: Evolution, expression profiling, and sugar transport. 61
24456138 2014
36
Ocular manifestations of 22q11.2 microduplication. 61
23972321 2014
37
Genetic effect of the Aegilops caudata plasmon on the manifestation of the Ae. cylindrica genome. 61
25832746 2014
38
Congenital cranial dysinnervation disorders: a concept in evolution. 61
23872818 2013
39
Identification of a single-stranded DNA virus associated with citrus chlorotic dwarf disease, a new member in the family Geminiviridae. 61
22749878 2012
40
Role of acute diverticulitis in the development of complicated colonic diverticular disease and 1-year mortality after diagnosis in the UK: population-based cohort study. 61
21551188 2012
41
New Diversity Arrays Technology (DArT) markers for tetraploid oat (Avena magna Murphy et Terrell) provide the first complete oat linkage map and markers linked to domestication genes from hexaploid A. sativa L. 61
21805339 2011
42
Polymorphic minisatellites in the mitochondrial DNAs of Oryza and Brassica. 61
21562713 2011
43
Improving the evidence base for decision making during a pandemic: the example of 2009 influenza A/H1N1. 61
21612363 2011
44
Recent progress in understanding congenital cranial dysinnervation disorders. 61
21317732 2011
45
Simultaneous occurrence of duane retraction syndrome with marfan syndrome. 61
22606474 2011
46
Absence of the trochlear nerve in patients with superior oblique hypoplasia. 61
20570358 2010
47
Expression of CENH3 alleles in synthesized allopolyploid Oryza species. 61
21035096 2010
48
Polyploid evolution in Oryza officinalis complex of the genus Oryza. 61
19828030 2009
49
A novel form of aberrant innervation in congenital cranial dysinnervation disorder. 61
18930669 2009
50
[Central nervous system abnormalities related to congenital fibrosis of extraocular muscles]. 61
19228463 2009

Variations for Cardiac Conduction Disease with or Without Dilated...

ClinVar genetic disease variations for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNNI3K NM_015978.3(TNNI3K):c.1577G>A (p.Gly526Asp)SNV Pathogenic 161447 rs606231469 1:74835179-74835179 1:74369495-74369495
2 TNNI3K NM_015978.2:c.1615A>GSNV Pathogenic 590304
3 TNNI3K NM_015978.3(TNNI3K):c.333+2T>CSNV Pathogenic 590305 rs762721434 1:74716455-74716455 1:74250771-74250771
4 TNNI3K NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys)SNV Likely pathogenic 626247 rs202238194 1:74957901-74957901 1:74492217-74492217

UniProtKB/Swiss-Prot genetic disease variations for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

73
# Symbol AA change Variation ID SNP ID
1 TNNI3K p.Gly526Asp VAR_072650 rs606231469

Expression for Cardiac Conduction Disease with or Without Dilated...

Search GEO for disease gene expression data for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy.

Pathways for Cardiac Conduction Disease with or Without Dilated...

GO Terms for Cardiac Conduction Disease with or Without Dilated...

Biological processes related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 8.62 TNNI3K FPGT-TNNI3K

Molecular functions related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 8.62 TNNI3K FPGT-TNNI3K

Sources for Cardiac Conduction Disease with or Without Dilated...

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17 EFO
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