CMH20
MCID: CRD147
MIFTS: 42

Cardiomyopathy, Familial Hypertrophic, 20 (CMH20)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 20

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 20:

Name: Cardiomyopathy, Familial Hypertrophic, 20 57 13 72
Cmh20 57 12 74
Familial Hypertrophic Cardiomyopathy 20 29 6
Cardiomyopathy, Hypertrophic, 20 57 29
Hypertrophic Cardiomyopathy 20 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 20 40
Cardiomyopathy, Familial Hypertrophic 20 74
Cardiomyopathy Familial Hypertrophic 20 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, familial hypertrophic, 20:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110326
MeSH 44 D024741
MedGen 42 C3151267
UMLS 72 C3151267

Summaries for Cardiomyopathy, Familial Hypertrophic, 20

UniProtKB/Swiss-Prot : 74 Cardiomyopathy, familial hypertrophic 20: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 20, is also known as cmh20. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 20 is NEXN (Nexilin F-Actin Binding Protein). The drugs Propofol and Rocuronium have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and testes, and related phenotypes are atrial fibrillation and cardiomyopathy

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that hhas material basis in heterozygous mutation in the NEXN gene on chromosome 1p31.1.

More information from OMIM: 613876 PS192600

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 20

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 20:

32
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 32 occasional (7.5%) HP:0005110
2 cardiomyopathy 32 HP:0001638
3 left ventricular hypertrophy 32 HP:0001712

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
left ventricular hypertrophy
atrial fibrillation (in some patients)
septal hypertrophy, asymmetric interventricular
left ventricular anterior wall hypertrophy (in some patients)

Clinical features from OMIM:

613876

GenomeRNAi Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 20 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Nuclear 40S maturation defects GR00209-A-2 8.96 RPS26 RPS29
2 Nucleolar pre-40S maturation defects GR00209-A-1 8.8 ABCE1 RPS26 RPS29

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 20

Drugs for Cardiomyopathy, Familial Hypertrophic, 20 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
3 Neurotransmitter Agents Phase 4
4 Adrenergic alpha-2 Receptor Agonists Phase 4
5 Adrenergic alpha-Agonists Phase 4
6 Adrenergic Agonists Phase 4
7 Adrenergic Agents Phase 4
8 Hypnotics and Sedatives Phase 4
9 Anesthetics, General Phase 4
10 Anesthetics, Intravenous Phase 4
11 Peripheral Nervous System Agents Phase 4
12 Neuromuscular Nondepolarizing Agents Phase 4
13 Neuromuscular Agents Phase 4
14 Neuromuscular Blocking Agents Phase 4
15 Anticonvulsants Phase 4
16 Bromides Phase 4
17
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
18
Capsaicin Approved Phase 1, Phase 2 404-86-4 1548943
19
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
20
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
21 Liver Extracts Phase 2
22 Micronutrients Phase 2
23 Trace Elements Phase 2
24 Vitamins Phase 2
25 Folate Phase 2
26 Vitamin B9 Phase 2
27 Vitamin B3 Phase 2
28 Nutrients Phase 2
29 Vitamin B Complex Phase 2
30 Nicotinic Acids Phase 2
31 Dermatologic Agents Phase 1, Phase 2
32 Antipruritics Phase 1, Phase 2
33
Sevoflurane Approved, Vet_approved 28523-86-6 5206
34
Ethanol Approved 64-17-5 702
35
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
36
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
37
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
38
Dexmedetomidine Approved, Vet_approved 113775-47-6 68602 5311068
39
tannic acid Approved 1401-55-4
40
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
41
Lidocaine Approved, Vet_approved 137-58-6 3676
42
Ketamine Approved, Vet_approved 6740-88-1 3821
43
Magnesium Sulfate Approved, Investigational, Vet_approved 7487-88-9 24083
44
Calcium Approved, Nutraceutical 7440-70-2 271
45
Tramazoline Investigational 1082-57-1
46 Calamus
47 Cardiotonic Agents
48 Respiratory System Agents
49 adrenomedullin
50 Protective Agents

Interventional clinical trials:

(show top 50) (show all 55)
# Name Status NCT ID Phase Drugs
1 Effects of Dexmedetomidine and Propofol on Pulmonary Mechanics Completed NCT02330120 Phase 4 propofol;dexmedetomidine
2 The Influence of a Functional Residual Capacity Guided Alveolar Recruitment Strategy After Open Endotracheal Suctioning on Oxygenation and Regional Ventilation Completed NCT00779090 Phase 4
3 Does Goal-directed Hemodynamic Therapy Driven by Endotracheal Cardiac Output Monitoring System During Surgical Intervention Reduce Hospital Stay and Major Adverse Cardiac Events Following Cardiac Surgery? Completed NCT01535716 Phase 4
4 Effects Of A Recruitment Maneuver On Plasma Levels of sRAGE, The Soluble Form of The Receptor For Advanced Glycation End Products, In Patients With Diffuse Acute Respiratory Distress Syndrome (ARDS) Completed NCT01600651 Phase 4
5 Does Depth of Neuromuscular Blockade (NMB) Affect Surgical Conditions and Postoperative Pain in Obese Patients Undergoing Robotic Surgery Recruiting NCT03591289 Phase 4 NMB with rocuronium bromide
6 Noninvasive Ventilation Strategies for Early Treatment of RDS in Preterm Infants: An RCT Completed NCT02259400 Phase 2, Phase 3
7 Study of Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Ventilation in Adults With Myotonic Dystrophy Type 1(DM1) Active, not recruiting NCT01225614 Phase 3
8 Evaluation of CPAP (Continuous Positive Airway Pressure) in the Planning of Radiation Treatments for Lung, Upper Abdomen and Left Breast Cancers Unknown status NCT02324530 Phase 2
9 Lowering Intracranial Pressure in Idiopathic Intracranial Hypertension: Assessing the Therapeutic Efficacy and Safety of an 11β-hydroxysteroid Dehydrogenase Type 1 Inhibitor (AZD4017). Phase II Study. Completed NCT02017444 Phase 2 AZD4017
10 Phase 2 Study of the Alveolar Recruitment Maneuver in Cesarean Section Completed NCT01826968 Phase 2
11 Cough and Swallow Rehabilitation Following Stroke Completed NCT01907321 Phase 1, Phase 2 Measures performed on all subjects
12 Endotracheal Tube Intracuff Pressure Change After Changing Position From Neutral to Hyperextension of Neck - Comparison of a Tapered Shaped- and Cylindrical Shaped Cuff Unknown status NCT02949856
13 Prospective, Open, Uncontrolled, Non-randomized and Monocentric Trial on the Efficacy and the Inflammatory Effects of a Lung Recruitment Manoeuvre in Mechanical Ventilated Patients With Respiratory Failure Unknown status NCT01070654
14 Evaluation of Effect of Continuous Positive Air Pressure (CPAP) on Upper Airway Dimensions, by Acoustic Pharyngometry (AP), in Severe Obstructive Sleep Apnea Syndrome (OSAS) and Primary Snore Patients Unknown status NCT01210703
15 Inspiratory Muscle Training Combined With General Exercise Training, Compared to General Exercise Training Alone in Patients With COPD: Randomized Controlled Trial Unknown status NCT02392715
16 The Effect of Combined General-epidural vs General Anaesthesia on Postoperative Intestinal Function Recovery and Infection in Neonates and Infants Undergoing Gastrointestinal Surgery: a Prospective, Randomised, Controlled Trial Unknown status NCT03056261
17 Criteria Analysis for Ventilatory Support Adjustment of Mechanical Ventilation Completed NCT02743624
18 Comparison of the Hemodynamic Safety of Two Common Alveolar Recruitment Manoeuvres With Regard to Cardiac Output in a Surgical Intensive Care Unit: a Randomized Study Completed NCT02805036
19 Airway Pressure During Nasal High Flow and CPAP in Neonates Completed NCT02632799
20 Wean Obese Study : Determination of the Optimal Spontaneous Breathing Trial for Obese Patient Completed NCT01616901
21 Duration of Mechanical Ventilation and Mortality Among Brain-injured Patients - a Before-after Evaluation of a Quality Improvement Project Completed NCT01885507
22 Effects of Sustained Inflation or Positive Pressure Ventilation on Release of Adrenomedullin in Preterm Infants With Respiratory Failure at Birth Completed NCT03437499
23 Continuous Positive Airway Pressure Decreased Lung Collapse During General Anesthesia Induction in Pediatric Patients Completed NCT03461770
24 Preoperative MUCP and VLPP Failed to Predict Long Term (4-Years) Outcome in Patients Who Underwent Transobturator Mid-Urethral Slings. a Prospective Observational Descriptive Study Completed NCT00658944
25 Study of the Efficiency and Workflow of Femtosecond Laser Assisted Cataract Surgery in a Spanish Public Hospital Completed NCT03931629
26 Obstructive Sleep Apnoea and CPAP Treatment Response in Patients With Non-alcoholic Fatty Liver Disease Completed NCT02728765
27 Validation of Customer Requirements for the HC244/HC254 Completed NCT00739011
28 Cerebral Oxygen Saturation, Mean Systemic Filling Pressure and Haemodynamic Effects of PEP and CPAP in Lower Body Negative Pressure Completed NCT03009305
29 Impact of Automatic Positive Airway Pressure on Treatment Compliance in Obstructive Sleep Apnea Patients Awaiting Bariatric Surgery Completed NCT02209220
30 Pulmonary Evaluation at Different Levels of PEEP: Ultrasonography Compared to Electrical Impedance Tomography (TIE) During Intraoperative Elective Surgeries Completed NCT03211936
31 Evaluation of Different Pre-Oxygenation Conditions in Morbid Obesity: Position and Ventilation Mode, in a Respiratory Physiology Laboratory, on Voluntary Subjects Completed NCT02121808
32 Evaluation of the Additional Effect of Non Invasive Mechanical Ventilation During a Rehabilitative Program With Cycloergometer in Patients With Chronic Respiratory Insufficiency Using Nocturnal Home Ventilation Completed NCT01458314
33 Sleep-Disordered Breathing in Chronic SCI: A Randomized Controlled Trial of Treatment Impact on Cognition, Quality of Life, and Cardiovascular Disease Completed NCT02176928
34 A Pilot Study Comparing Infant Flow SiPAP to Noninvasive NAVA Completed NCT01588080
35 Comparison of Laryngeal Mask Airway Supreme and Endotracheal Tube In Patients Undergoing Gynecological Laparoscopy Surgery Completed NCT02127632
36 Comparing the Effectiveness Between Air-Q Intubating Laryngeal Airway and Ambu® AuraGain™ Laryngeal Mask for Controlled Ventilation in Paediatric Patients: A Randomized Controlled Trial. Completed NCT03130413
37 Clinical Comparison of Different Humidification Strategies During Noninvasive Ventilation With Helmet Completed NCT02875379
38 An Investigation to Test the Efficacy of a Novel CPAP Concept to Reduce the Apnea Hypopnea Index of Patients With Obstructive Sleep Apnea Completed NCT01025440
39 The Performance of a Capnodynamic Method Compared to Transpulmonary Thermodilution in Open Abdominal Surgery Completed NCT03444545
40 Randomized Placebo-controlled Cross-over Trial of the Effect of Nasal Tramazoline With Dexamethasone in Obstructive Sleep Apnoea Patients Completed NCT01601509 Nasal tramazoline with dexamethazone;Nasal placebo
41 Efficacy and Safety of a Lung Recruitment Protocol in Children With Acute Lung Injury Completed NCT00830284
42 Validation of PVI as a Parameter to Predict Fluid Responsiveness Recruiting NCT03075150
43 Protocol-directed Weaning From Mechanical Ventilation in Neurological Patients: a Controlled Trial Recruiting NCT03128086
44 Impact of Open Lung Concept and Opioid Free Anesthesia on Post Operative Outcome. An Observational Study Using Automatic Recording of All Ventilation Parameters. Recruiting NCT03660306
45 Low Tidal MEChanical Ventilation Against NO Ventilation During Cardiopulmonary Bypass Heart Surgery : a Randomized Controlled Trial Recruiting NCT03098524
46 Investigating the Effect of Nasal High Flow Oxygen Therapy on Regional Lung Function Recruiting NCT03821311
47 Inspiratory Muscle Training in Patients With Nemaline Myopathy Recruiting NCT03728803
48 Gravity- Versus Suction-driven Large Volume Thoracentesis: a Randomized Controlled Study Recruiting NCT03591952
49 The Effects of Non-invasive Ventilation During Cycle Exercise Within a 3-week Pulmonary Rehabilitation Program in COPD Patients With Chronic Hypercapnic Respiratory Failure - a Randomized Controlled Trial Recruiting NCT03803358
50 Prospective Observational Study, Maternal Effects of Magnesium Sulphate for Neonatal Neuroprotection in Women Having Cesarean Section Under Neuraxial Anesthesia Recruiting NCT01482078

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 20

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 20

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 20:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 20 29 NEXN
2 Cardiomyopathy, Hypertrophic, 20 29

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 20

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 20:

41
Lung, Heart, Testes, Liver, Brain, Breast, Spinal Cord

Publications for Cardiomyopathy, Familial Hypertrophic, 20

Articles related to Cardiomyopathy, Familial Hypertrophic, 20:

(show top 50) (show all 97)
# Title Authors PMID Year
1
Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. 8 71
20970104 2010
2
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 71
25173338 2014
3
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 71
22241583 2012
4
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). 71
21810866 2011
5
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 71
19808356 2009
6
Hypertrophic Cardiomyopathy Overview 71
20301725 2008
7
Mutations in sarcomere protein genes in left ventricular noncompaction. 71
18506004 2008
8
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 71
18258667 2008
9
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 71
17611253 2007
10
Gene mutations in apical hypertrophic cardiomyopathy. 71
16267253 2005
11
Molecular and muscle pathology in a series of caveolinopathy patients. 71
15580566 2005
12
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 71
14672715 2004
13
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. 71
14607462 2003
14
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 71
12767666 2003
15
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 71
10966831 2000
16
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 71
8889580 1996
17
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 71
8079988 1994
18
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 71
7459150 1980
19
Assessment of Diaphragm Function and Pleural Pressures during Thoracentesis. 38
31398347 2019
20
Troubleshooting Hypoxemia After Placement of an Extraglottic Airway. 38
31122593 2019
21
Mucosal injury following short-term tracheal intubation: A novel animal model and composite tracheal injury score. 38
30186955 2018
22
Assessment of lacrimal resistance using a manometric tear duct irrigation system. 38
29405794 2018
23
Impact of positive end expiratory pressure on cerebral hemodynamic in paediatric patients with post-traumatic brain swelling treated by surgical decompression. 38
29746600 2018
24
Switch to Abobotulinum toxin A may be useful in the treatment of neurogenic detrusor overactivity when intradetrusor injections of Onabotulinum toxin A failed. 38
28431196 2018
25
Impact of large volume paracentesis on respiratory parameters including transpulmonary pressure and on transpulmonary thermodilution derived hemodynamics: A prospective study. 38
29538440 2018
26
Low tidal volume mechanical ventilation against no ventilation during cardiopulmonary bypass heart surgery (MECANO): study protocol for a randomized controlled trial. 38
29197407 2017
27
Effectiveness of prophylactic non-invasive ventilation on respiratory function in the postoperative phase of pediatric cardiac surgery: a randomized controlled trial. 38
27706462 2016
28
Worsening Hypoxemia in the Face of Increasing PEEP: A Case of Large Pulmonary Embolism in the Setting of Intracardiac Shunt. 38
27377010 2016
29
Transcutaneous Electrical Nerve Stimulation for Treating Neurogenic Lower Urinary Tract Dysfunction: A Systematic Review. 38
26831506 2016
30
Effects of clamping procedures on central venous pressure during liver resection. 38
26633749 2016
31
Metabolomics screening identifies reduced L-carnitine to be associated with progressive emphysema. 38
26564208 2016
32
Infraclavicular axillary vein cannulation using ultrasound in a mechanically ventilated general intensive care population. 38
26310415 2015
33
[Measurement of the Minimum Pressure in the Bronchial Cuff during One-lung Ventilation Using a Capnometer]. 38
26442408 2015
34
Structural and functional correlations in a large animal model of bleomycin-induced pulmonary fibrosis. 38
26227819 2015
35
[Intrinsic sphincter deficiency and female urinary incontinence]. 38
25864653 2015
36
Impact of Extraperitoneal Dioxyde Carbon Insufflation on Respiratory Function in Anesthetized Adults: A Preliminary Study Using Electrical Impedance Tomography and Wash-out/Wash-in Technic. 38
25789238 2015
37
Effect of positive end-expiratory pressure on porcine right ventricle function assessed by speckle tracking echocardiography. 38
25873786 2015
38
Increased intracranial pressure in spontaneous CSF leak patients is not associated with papilledema. 38
25248848 2014
39
A Valsalva leak-point pressure of >100 cmH2O is associated with greater success in AdVance™ sling placement for the treatment of post-prostatectomy urinary incontinence. 38
24796275 2014
40
Heart-lung interactions during neurally adjusted ventilatory assist. 38
25212533 2014
41
Assessment of right liver graft perfusion effectiveness between one and two-catheter infusion methods. 38
26155247 2014
42
Tidal stretches differently regulate the contractile and cytoskeletal elements in intact airways. 38
24740101 2014
43
Current ventilation practice during general anaesthesia: a prospective audit in Melbourne, Australia. 38
25302048 2014
44
Comparison of three high flow oxygen therapy delivery devices: a clinical physiological cross-over study. 38
23857440 2013
45
Repeat mid-urethral sling for recurrent female stress urinary incontinence. 38
22976532 2013
46
Detrusor underactivity is prevalent after radical prostatectomy: A urodynamic study including risk factors. 38
22277630 2013
47
Predictive value of obstructive voiding symptoms and objective bladder emptying tests for urinary retention. 38
23075353 2012
48
Inspiratory muscle training in patients with heart failure: meta-analysis of randomized trials. 38
22964897 2012
49
[Difficult ventilation after sugammadex administration: a case report]. 38
22860306 2012
50
Comparison of superior vena cava and femoroiliac vein pressure according to intra-abdominal pressure. 38
22742667 2012

Variations for Cardiomyopathy, Familial Hypertrophic, 20

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 20:

6 (show top 50) (show all 85)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NEXN NM_144573.3(NEXN): c.391C> G (p.Gln131Glu) single nucleotide variant Pathogenic rs387907079 1:78383902-78383902 1:77918217-77918217
2 NEXN NM_144573.3(NEXN): c.835C> T (p.Arg279Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146245480 1:78392548-78392548 1:77926863-77926863
3 NEXN NM_144573.3(NEXN): c.1955A> G (p.Tyr652Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853197 1:78408441-78408441 1:77942756-77942756
4 NEXN NM_144573.3(NEXN): c.1671_1673GGA[2] (p.Glu561_Glu562del) short repeat Conflicting interpretations of pathogenicity rs397517848 1:78408163-78408168 1:77942478-77942483
5 NEXN NM_144573.3(NEXN): c.1946_1948GAG[1] (p.Gly650del) short repeat Conflicting interpretations of pathogenicity rs397517853 1:78408435-78408437 1:77942750-77942752
6 NEXN NM_144573.3(NEXN): c.732C> A (p.Pro244=) single nucleotide variant Conflicting interpretations of pathogenicity rs201171783 1:78392445-78392445 1:77926760-77926760
7 NEXN NM_144573.3(NEXN): c.1918_1922del (p.Tyr640fs) deletion Conflicting interpretations of pathogenicity rs1222794437 1:78408404-78408408 1:77942719-77942723
8 NEXN NM_144573.3(NEXN): c.893C> G (p.Thr298Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200753280 1:78395029-78395029 1:77929344-77929344
9 NEXN NM_144573.3(NEXN): c.995A> C (p.Glu332Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201763096 1:78395131-78395131 1:77929446-77929446
10 NEXN NM_144573.3(NEXN): c.1408G> C (p.Glu470Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs35366555 1:78401664-78401664 1:77935979-77935979
11 NEXN NM_144573.3(NEXN): c.949A> C (p.Met317Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs559464457 1:78395085-78395085 1:77929400-77929400
12 NEXN NM_144573.3(NEXN): c.1029G> A (p.Ala343=) single nucleotide variant Conflicting interpretations of pathogenicity rs374260457 1:78395165-78395165 1:77929480-77929480
13 NEXN NM_144573.3(NEXN): c.512T> C (p.Ile171Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs372065024 1:78392121-78392121 1:77926436-77926436
14 NEXN NM_144573.3(NEXN): c.856C> T (p.Arg286Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199917913 1:78392569-78392569 1:77926884-77926884
15 NEXN NM_144573.3(NEXN): c.1618A> G (p.Met540Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201390657 1:78407852-78407852 1:77942167-77942167
16 NEXN NM_144573.3(NEXN): c.1671_1673GGA[3] (p.Glu562del) short repeat Conflicting interpretations of pathogenicity rs397517848 1:78408166-78408168 1:77942481-77942483
17 NEXN NM_144573.3(NEXN): c.86G> T (p.Gly29Val) single nucleotide variant Uncertain significance rs876657931 1:78383309-78383309 1:77917624-77917624
18 NEXN NM_144573.3(NEXN): c.1640T> C (p.Ile547Thr) single nucleotide variant Uncertain significance rs753636624 1:78407874-78407874 1:77942189-77942189
19 NEXN NM_144573.3(NEXN): c.1271C> T (p.Thr424Ile) single nucleotide variant Uncertain significance rs200442502 1:78401527-78401527 1:77935842-77935842
20 NEXN NM_144573.3(NEXN): c.1416_1418AAG[1] (p.Arg475del) short repeat Uncertain significance rs794729091 1:78401675-78401677 1:77935990-77935992
21 NEXN NM_144573.3(NEXN): c.1430T> C (p.Ile477Thr) single nucleotide variant Uncertain significance 1:78401686-78401686 1:77936001-77936001
22 NEXN NM_144573.3(NEXN): c.1435C> T (p.Leu479Phe) single nucleotide variant Uncertain significance rs181520023 1:78401691-78401691 1:77936006-77936006
23 NEXN NM_144573.3(NEXN): c.1471G> C (p.Glu491Gln) single nucleotide variant Uncertain significance rs373057251 1:78401727-78401727 1:77936042-77936042
24 NEXN NM_144573.3(NEXN): c.1573_1575GAA[3] (p.Glu528del) short repeat Uncertain significance rs764505909 1:78407816-78407818 1:77942131-77942133
25 NEXN NM_144573.3(NEXN): c.242A> T (p.Asp81Val) single nucleotide variant Uncertain significance rs367871780 1:78383667-78383667 1:77917982-77917982
26 NEXN NM_144573.3(NEXN): c.379C> T (p.Arg127Cys) single nucleotide variant Uncertain significance rs771113424 1:78383890-78383890 1:77918205-77918205
27 NEXN NM_144573.3(NEXN): c.1174C> T (p.Arg392Ter) single nucleotide variant Uncertain significance rs750076188 1:78399087-78399087 1:77933402-77933402
28 NEXN NM_144573.3(NEXN): c.1415C> G (p.Ala472Gly) single nucleotide variant Uncertain significance rs539665448 1:78401671-78401671 1:77935986-77935986
29 NEXN NM_144573.3(NEXN): c.687+4A> T single nucleotide variant Uncertain significance rs754061340 1:78392300-78392300 1:77926615-77926615
30 NEXN NM_144573.3(NEXN): c.392A> C (p.Gln131Pro) single nucleotide variant Uncertain significance rs397517858 1:78383903-78383903 1:77918218-77918218
31 NEXN NM_144573.3(NEXN): c.671G> A (p.Cys224Tyr) single nucleotide variant Uncertain significance rs886046534 1:78392280-78392280 1:77926595-77926595
32 NEXN NM_144573.3(NEXN): c.643C> G (p.Gln215Glu) single nucleotide variant Uncertain significance 1:78392252-78392252 1:77926567-77926567
33 NEXN NM_144573.3(NEXN): c.752T> G (p.Phe251Cys) single nucleotide variant Uncertain significance 1:78392465-78392465 1:77926780-77926780
34 NEXN NM_144573.3(NEXN): c.250G> A (p.Glu84Lys) single nucleotide variant Uncertain significance 1:78383675-78383675 1:77917990-77917990
35 NEXN NM_144573.3(NEXN): c.1664_1666del (p.Arg555_Glu556delinsLys) deletion Uncertain significance 1:78408150-78408152 1:77942465-77942467
36 NEXN NM_144573.3(NEXN): c.134G> T (p.Arg45Ile) single nucleotide variant Uncertain significance 1:78383357-78383357 1:77917672-77917672
37 NEXN NM_144573.3(NEXN): c.431C> T (p.Ala144Val) single nucleotide variant Uncertain significance 1:78383942-78383942 1:77918257-77918257
38 NEXN NM_144573.3(NEXN): c.542C> T (p.Thr181Ile) single nucleotide variant Uncertain significance 1:78392151-78392151 1:77926466-77926466
39 NEXN NM_144573.3(NEXN): c.857G> A (p.Arg286Gln) single nucleotide variant Uncertain significance 1:78392570-78392570 1:77926885-77926885
40 NEXN NM_144573.3(NEXN): c.1046G> C (p.Arg349Thr) single nucleotide variant Uncertain significance 1:78395182-78395182 1:77929497-77929497
41 NEXN NM_144573.3(NEXN): c.1055T> C (p.Val352Ala) single nucleotide variant Uncertain significance 1:78398968-78398968 1:77933283-77933283
42 NEXN NM_144573.3(NEXN): c.1697T> C (p.Met566Thr) single nucleotide variant Uncertain significance 1:78408183-78408183 1:77942498-77942498
43 NEXN NM_144573.3(NEXN): c.1739G> A (p.Gly580Glu) single nucleotide variant Uncertain significance 1:78408225-78408225 1:77942540-77942540
44 NEXN NM_144573.3(NEXN): c.1877A> G (p.Glu626Gly) single nucleotide variant Uncertain significance 1:78408363-78408363 1:77942678-77942678
45 NEXN NM_144573.3(NEXN): c.2008A> T (p.Thr670Ser) single nucleotide variant Uncertain significance 1:78408494-78408494 1:77942809-77942809
46 NEXN NM_144573.3(NEXN): c.277G> C (p.Ala93Pro) single nucleotide variant Uncertain significance rs1256690084 1:78383702-78383702 1:77918017-77918017
47 NEXN NM_144573.3(NEXN): c.1994G> T (p.Ser665Ile) single nucleotide variant Uncertain significance rs777703689 1:78408480-78408480 1:77942795-77942795
48 NEXN NM_144573.3(NEXN): c.491A> G (p.Glu164Gly) single nucleotide variant Uncertain significance rs1553238441 1:78392100-78392100 1:77926415-77926415
49 NEXN NM_144573.3(NEXN): c.767G> A (p.Arg256Gln) single nucleotide variant Uncertain significance rs748921688 1:78392480-78392480 1:77926795-77926795
50 NEXN NM_144573.3(NEXN): c.1348dup (p.Ser450fs) duplication Uncertain significance rs1553240600 1:78401604-78401604 1:77935919-77935919

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 20:

74
# Symbol AA change Variation ID SNP ID
1 NEXN p.Gln131Glu VAR_065477 rs387907079
2 NEXN p.Arg279Cys VAR_065478 rs146245480

Expression for Cardiomyopathy, Familial Hypertrophic, 20

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 20.

Pathways for Cardiomyopathy, Familial Hypertrophic, 20

GO Terms for Cardiomyopathy, Familial Hypertrophic, 20

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 rough endoplasmic reticulum GO:0005791 9.32 RPS29 RPS26
2 cytosolic small ribosomal subunit GO:0022627 9.26 RPS29 RPS26
3 polysomal ribosome GO:0042788 9.16 RPS29 RPS26
4 small ribosomal subunit GO:0015935 8.96 RPS29 RPS26
5 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 8.62 RPS29 RPS26

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.32 RPS29 RPS26
2 cornification GO:0070268 9.26 PPL KRT86
3 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.16 RPS29 RPS26
4 cytoplasmic translation GO:0002181 8.96 RPS29 RPS26
5 translational initiation GO:0006413 8.8 RPS29 RPS26 ABCE1

Sources for Cardiomyopathy, Familial Hypertrophic, 20

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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