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CMH20
MCID: CRD147
MIFTS: 55

Cardiomyopathy, Familial Hypertrophic, 20 (CMH20)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 20

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MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 20:

Name: Cardiomyopathy, Familial Hypertrophic, 20 57 13 71
Cmh20 57 12 73
Familial Hypertrophic Cardiomyopathy 20 29 6
Cardiomyopathy, Hypertrophic, 20 57 29
Hypertrophic Cardiomyopathy 20 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 20 39
Cardiomyopathy, Familial Hypertrophic 20 73
Cardiomyopathy Familial Hypertrophic 20 12

Characteristics:

OMIM®:

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


HPO:

31
cardiomyopathy, familial hypertrophic, 20:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110326
OMIM® 57 613876
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741
MedGen 41 C3151267
UMLS 71 C3151267
Sources

Summaries for Cardiomyopathy, Familial Hypertrophic, 20

About this section
UniProtKB/Swiss-Prot : 73 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, also known as cmh20, is related to vesicoureteral reflux 1 and hydronephrosis. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 20 is NEXN (Nexilin F-Actin Binding Protein), and among its related pathways/superpathways are PAK Pathway and Allograft rejection. The drugs Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related phenotypes are atrial fibrillation and left ventricular hypertrophy

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
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Related Diseases for Cardiomyopathy, Familial Hypertrophic, 20

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Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Infantile Hypertrophic Cardiomyopathy, Familial Hypertrophic, 6
Cardiomyopathy, Familial Hypertrophic, 25 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 10 Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 12 Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 14 Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 7 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 17
Cardiomyopathy, Familial Hypertrophic, 18 Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic, 26
Cardiomyopathy, Familial Hypertrophic 27 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training
Rare Familial Disorder with Hypertrophic Cardiomyopathy

Diseases related to Cardiomyopathy, Familial Hypertrophic, 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 725)
# Related Disease Score Top Affiliating Genes
1 vesicoureteral reflux 1 30.2 CXCL8 CRP ALB
2 hydronephrosis 30.0 IL6 CXCL8 CRP ALB
3 noma 10.4 CXCL8 ALB
4 polycystic kidney disease 4 10.4 ELN ALB
5 immuno-osseous dysplasia 10.4 ELN ALB
6 chronic duodenal ileus 10.4 CRP ALB
7 external pathological resorption 10.4 TNF IL6
8 scorpion envenomation 10.4 TNF IL6
9 physiological polycythemia 10.4 TNF IL6
10 cerebral aneurysms 10.4 IL6 ELN
11 peptic ulcer perforation 10.3 CRP ALB
12 gummatous syphilis 10.3 ELN CRP
13 ankylosing spondylitis 3 10.3 CRP ALB
14 fuchs' heterochromic uveitis 10.3 IL6 CXCL8
15 ankylosing spondylitis 1 10.3 CRP ALB
16 toxicodendron dermatitis 10.3 TNF CXCL8
17 aneruptive fever 10.3 IL13 ALB
18 tuberculous peritonitis 10.3 CRP ALB
19 cold agglutinin disease 10.3 IL6 CRP
20 cardiogenic shock 10.3 TNF IL6
21 drug reaction with eosinophilia and systemic symptoms 10.3 TNF CRP
22 epidural abscess 10.3 CRP ALB
23 prosthetic joint infection 10.3 IL6 CRP
24 chronic intestinal vascular insufficiency 10.3 CRP ALB
25 jejunoileitis 10.3 TNF ALB
26 haemophilus influenzae 10.3 TNF CXCL8
27 hydrops of gallbladder 10.3 CRP ALB
28 anterior scleritis 10.3 TNF CRP
29 splenic abscess 10.3 CRP ALB
30 ascending cholangitis 10.3 CRP ALB
31 hemopericardium 10.3 ELN CRP
32 null-cell leukemia 10.3 TNF IL6
33 uremic pruritus 10.3 IL6 CRP
34 systemic autoimmune disease 10.3 IL6 CRP
35 cryopyrin-associated periodic syndrome 10.3 IL6 CRP
36 rheumatoid arthritis interstitial lung disease 10.3 TNF CRP
37 posterior scleritis 10.3 TNF CRP
38 ulcer of lower limbs 10.3 TNF IL6
39 mediastinitis 10.3 CRP ALB
40 prolapse of urethra 10.3 NEXN ELN ALB
41 duodenal obstruction 10.3 CRP ALB
42 skeletal tuberculosis 10.3 TNF CRP
43 acalculous cholecystitis 10.3 CRP ALB
44 tuberculous epididymitis 10.3 TNF CRP
45 systemic onset juvenile idiopathic arthritis 10.3 TNF IL6
46 slow-channel congenital myasthenic syndrome 10.3 CXCL8 CRP
47 mycobacterium abscessus 10.3 TNF CXCL8
48 louse-borne relapsing fever 10.3 TNF CRP
49 opportunistic bacterial infectious disease 10.3 TNF CRP
50 neurosyphilis 10.3 IL10 CXCL8

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 20:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 20
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Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 20

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Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 20:

31
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 31 occasional (7.5%) HP:0005110
2 left ventricular hypertrophy 31 HP:0001712
3 cardiomyopathy 31 HP:0001638

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 20:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.43 ALB IL10 IL5 IL6 SCGB1A1 TNF
2 respiratory system MP:0005388 9.23 IL10 IL13 IL5 IL6 MMP12 SCGB1A1
Sources

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 20

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
2
tannic acid Approved Phase 2, Phase 3 1401-55-4
3
Capsaicin Approved Phase 1, Phase 2 404-86-4 1548943
4 Dermatologic Agents Phase 1, Phase 2
5
Sevoflurane Approved, Vet_approved 28523-86-6 5206
6 adrenomedullin
7 Calamus
8 Anesthetics
9 Analgesics, Opioid

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 The Influence of a Functional Residual Capacity Guided Alveolar Recruitment Strategy After Open Endotracheal Suctioning on Oxygenation and Regional Ventilation Completed NCT00779090 Phase 4
2 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
3 Noninvasive Ventilation Strategies for Early Treatment of RDS in Preterm Infants: An RCT Completed NCT02259400 Phase 2, Phase 3
4 Phase 2 Study of the Alveolar Recruitment Maneuver in Cesarean Section Completed NCT01826968 Phase 2
5 Cough and Swallow Rehabilitation Following Stroke Completed NCT01907321 Phase 1, Phase 2 Measures performed on all subjects
6 Physiological Effects of the Application of Secretion Removal Device in Invasively Ventilated Patients Unknown status NCT03758547
7 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
8 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 Unknown status NCT03803358
9 Inspiratory Muscle Training Combined With General Exercise Training, Compared to General Exercise Training Alone in Patients With COPD: Randomized Controlled Trial Unknown status NCT02392715
10 Criteria Analysis for Ventilatory Support Adjustment of Mechanical Ventilation Completed NCT02743624
11 Wean Obese Study : Determination of the Optimal Spontaneous Breathing Trial for Obese Patient Completed NCT01616901
12 Effects of Sustained Inflation or Positive Pressure Ventilation on Release of Adrenomedullin in Preterm Infants With Respiratory Failure at Birth Completed NCT03437499
13 Evaluation of Different Pre-Oxygenation Conditions in Morbid Obesity: Position and Ventilation Mode, in a Respiratory Physiology Laboratory, on Voluntary Subjects Completed NCT02121808
14 Continuous Positive Airway Pressure Decreased Lung Collapse During General Anesthesia Induction in Pediatric Patients Completed NCT03461770
15 Duration of Mechanical Ventilation and Mortality Among Brain-injured Patients - a Before-after Evaluation of a Quality Improvement Project Completed NCT01885507
16 Sleep-Disordered Breathing in Chronic SCI: A Randomized Controlled Trial of Treatment Impact on Cognition, Quality of Life, and Cardiovascular Disease Completed NCT02176928
17 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
18 Validation of Customer Requirements for the HC244/HC254 Completed NCT00739011
19 A Pilot Study Comparing Infant Flow SiPAP to Noninvasive NAVA Completed NCT01588080
20 Low Tidal MEChanical Ventilation Against NO Ventilation During Cardiopulmonary Bypass Heart Surgery : a Randomized Controlled Trial Completed NCT03098524
21 Pulmonary Evaluation at Different Levels of PEEP: Ultrasonography Compared to Electrical Impedance Tomography (TIE) During Intraoperative Elective Surgeries Completed NCT03211936
22 Effect of Changing Levels of Neurally Adjusted Ventilatory Assist (NAVA) on Respiratory Parameters in Newborns Receiving NAVA Ventilation Recruiting NCT03780842
23 Inspiratory Muscle Training in Patients With Nemaline Myopathy Recruiting NCT03728803
24 High Flow Nasal Oxygen Versus Continuous Positive Airway Pressure Helmet Evaluation: A Randomized Crossover Trial in COVID-19 Pneumonia Not yet recruiting NCT04381923
25 End-expiratory Occlusion Test and Lung Recruitment Maneuver to Assess Fluid responsiVeness In Surgical Patients: an Open-label, Randomized Clinical Trial Not yet recruiting NCT03820440
26 Diastolic dYsfunctioN AssessMent in critICally Ill Patients: an Observational Prospective Multicentric Study. Not yet recruiting NCT04584203
27 Observational Study Evaluating the Impact of Lung Protective Ventilation (LPV) During Opioid Free Anesthesia (OFA) on Postoperative Oxygen Saturation. Not yet recruiting NCT04192305
28 The Effect of Positive End Expiratory Pressure on Intracranial Pressure: The Brain and Lung Interaction (BALI) Study Withdrawn NCT04288076

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 20

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 20

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Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 20:

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

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

40
Heart, Liver, Lung, Brain, Spinal Cord, Smooth Muscle
Sources

Publications for Cardiomyopathy, Familial Hypertrophic, 20

About this section

Articles related to Cardiomyopathy, Familial Hypertrophic, 20:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. 57 6
20970104 2010
2
ALVEOLAR RECRUITMENT MANEUVERS FOR CHILDREN WITH CANCER AND ACUTE RESPIRATORY DISTRESS SYNDROME: A FEASIBILITY STUDY. 61
33440404 2021
3
Multicentre, randomised trial of preterm infants receiving caffeine and less invasive surfactant administration compared with caffeine and early continuous positive airway pressure (CaLI trial): study protocol. 61
33483435 2021
4
Laparoscopic robotic-assisted "keel" bladder neck construction. 61
33077387 2020
5
In utero myelomeningocele repair: The natural history of patients with incontinent pattern (sphincteric deficiency: leakage below 40 CMH20). 61
32918741 2020
6
Preoperative Exercise Training to Prevent Postoperative Pulmonary Complications in Adults Undergoing Major Surgery: A Systematic Review and Meta-analysis with Trial Sequential Analysis. 61
33030962 2020
7
Artifacts and abnormal findings may limit the use of asymptomatic volunteers as controls for studies of multi-channel urodynamics. 61
32638575 2020
8
Changes in infant non-nutritive sucking throughout a suck sample at 3-months of age. 61
32645061 2020
9
Effect of moderate elevated intra-abdominal pressure on lung mechanics and histological lung injury at different positive end-expiratory pressures. 61
32294090 2020
10
Troubleshooting Hypoxemia After Placement of an Extraglottic Airway. 61
31122593 2019
11
Respiratory variations in pulse pressure and photoplethysmographic waveform amplitude during positive expiratory pressure and continuous positive airway pressure in a model of progressive hypovolemia. 61
31560715 2019
12
Assessment of lacrimal resistance using a manometric tear duct irrigation system. 61
29405794 2018
13
Mucosal injury following short-term tracheal intubation: A novel animal model and composite tracheal injury score. 61
30186955 2018
14
Impact of positive end expiratory pressure on cerebral hemodynamic in paediatric patients with post-traumatic brain swelling treated by surgical decompression. 61
29746600 2018
15
Switch to Abobotulinum toxin A may be useful in the treatment of neurogenic detrusor overactivity when intradetrusor injections of Onabotulinum toxin A failed. 61
28431196 2018
16
Impact of large volume paracentesis on respiratory parameters including transpulmonary pressure and on transpulmonary thermodilution derived hemodynamics: A prospective study. 61
29538440 2018
17
Low tidal volume mechanical ventilation against no ventilation during cardiopulmonary bypass heart surgery (MECANO): study protocol for a randomized controlled trial. 61
29197407 2017
18
Effectiveness of prophylactic non-invasive ventilation on respiratory function in the postoperative phase of pediatric cardiac surgery: a randomized controlled trial. 61
27706462 2016
19
Worsening Hypoxemia in the Face of Increasing PEEP: A Case of Large Pulmonary Embolism in the Setting of Intracardiac Shunt. 61
27377010 2016
20
Transcutaneous Electrical Nerve Stimulation for Treating Neurogenic Lower Urinary Tract Dysfunction: A Systematic Review. 61
26831506 2016
21
Effects of clamping procedures on central venous pressure during liver resection. 61
26633749 2016
22
Metabolomics screening identifies reduced L-carnitine to be associated with progressive emphysema. 61
26564208 2016
23
Infraclavicular axillary vein cannulation using ultrasound in a mechanically ventilated general intensive care population. 61
26310415 2015
24
[Measurement of the Minimum Pressure in the Bronchial Cuff during One-lung Ventilation Using a Capnometer]. 61
26442408 2015
25
Structural and functional correlations in a large animal model of bleomycin-induced pulmonary fibrosis. 61
26227819 2015
26
[Intrinsic sphincter deficiency and female urinary incontinence]. 61
25864653 2015
27
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. 61
25789238 2015
28
Effect of positive end-expiratory pressure on porcine right ventricle function assessed by speckle tracking echocardiography. 61
25873786 2015
29
Increased intracranial pressure in spontaneous CSF leak patients is not associated with papilledema. 61
25248848 2014
30
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. 61
24796275 2014
31
Heart-lung interactions during neurally adjusted ventilatory assist. 61
25212533 2014
32
Assessment of right liver graft perfusion effectiveness between one and two-catheter infusion methods. 61
26155247 2014
33
Current ventilation practice during general anaesthesia: a prospective audit in Melbourne, Australia. 61
25302048 2014
34
Tidal stretches differently regulate the contractile and cytoskeletal elements in intact airways. 61
24740101 2014
35
Comparison of three high flow oxygen therapy delivery devices: a clinical physiological cross-over study. 61
23857440 2013
36
Repeat mid-urethral sling for recurrent female stress urinary incontinence. 61
22976532 2013
37
Detrusor underactivity is prevalent after radical prostatectomy: A urodynamic study including risk factors. 61
22277630 2013
38
Predictive value of obstructive voiding symptoms and objective bladder emptying tests for urinary retention. 61
23075353 2012
39
Inspiratory muscle training in patients with heart failure: meta-analysis of randomized trials. 61
22964897 2012
40
[Difficult ventilation after sugammadex administration: a case report]. 61
22860306 2012
41
Comparison of superior vena cava and femoroiliac vein pressure according to intra-abdominal pressure. 61
22742667 2012
42
Normal values of the maximal respiratory pressures in healthy people older than 20 years old in the City of Manizales - Colombia. 61
24893052 2012
43
Outcomes and complications of sphincterotomy with bladder neck incision in neurologically healthy male patients with voiding dysfunction. 61
22414453 2012
44
Intracorporeal neobladder reconstruction: pressure-flow urodyamic studies in cadaveric orthotopic neobladders. 61
21981411 2012
45
The value of the cerebrospinal fluid tap test for predicting shunt effectiveness in idiopathic normal pressure hydrocephalus. 61
22239832 2012
46
[A case of respiratory insufficiency after resection of the aortic aneurysm and replacement with a synthetic conduit which recovered by airway pressure release ventilation]. 61
21520603 2011
47
[Extended analysis of urethral profilometry in women with urinary stress incontinence--preliminary report]. 61
20873119 2010
48
Antenatal and postnatal corticosteroid and resuscitation induced lung injury in preterm sheep. 61
20003512 2009
49
Three-dimensional measurement of alveolar airspace volumes in normal and emphysematous lungs using micro-CT. 61
19541732 2009
50
A national survey on the practice and outcomes of mechanical ventilation in Korean intensive care units. 61
19400492 2009
Sources

Variations for Cardiomyopathy, Familial Hypertrophic, 20

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

6 (show top 50) (show all 116)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEXN NM_144573.3(NEXN):c.391C>G (p.Gln131Glu) SNV Pathogenic 30993 rs387907079 1:78383902-78383902 1:77918217-77918217
2 NEXN NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) SNV Uncertain significance 30994 rs146245480 1:78392548-78392548 1:77926863-77926863
3 NEXN NM_144573.3(NEXN):c.687+4A>T SNV Uncertain significance 241866 rs754061340 1:78392300-78392300 1:77926615-77926615
4 NEXN NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) SNV Uncertain significance 47897 rs199738750 1:78408274-78408274 1:77942589-77942589
5 NEXN NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) SNV Uncertain significance 326 rs137853197 1:78408441-78408441 1:77942756-77942756
6 NEXN NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del) Microsatellite Uncertain significance 201940 rs794729091 1:78401672-78401674 1:77935987-77935989
7 NEXN NM_001172309.1(NEXN):c.1479_1481GGA[3] (p.Glu498del) Microsatellite Uncertain significance 201945 rs397517848 1:78408155-78408157 1:77942470-77942472
8 NEXN NM_144573.4(NEXN):c.1946_1948GAG[1] (p.Gly650del) Microsatellite Uncertain significance 47899 rs397517853 1:78408435-78408437 1:77942746-77942748
9 NEXN NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) SNV Uncertain significance 47887 rs200067011 1:78399025-78399025 1:77933340-77933340
10 NEXN NM_144573.4(NEXN):c.613G>A (p.Glu205Lys) SNV Uncertain significance 47908 rs201447781 1:78392222-78392222 1:77926537-77926537
11 NEXN NM_144573.3(NEXN):c.1852G>A (p.Glu618Lys) SNV Uncertain significance 409282 rs1060502321 1:78408338-78408338 1:77942653-77942653
12 NEXN NM_144573.3(NEXN):c.1687G>T (p.Gly563Cys) SNV Uncertain significance 417868 rs1060499571 1:78408173-78408173 1:77942488-77942488
13 NEXN NM_144573.3(NEXN):c.671G>A (p.Cys224Tyr) SNV Uncertain significance 298088 rs886046534 1:78392280-78392280 1:77926595-77926595
14 NEXN NM_144573.3(NEXN):c.277G>C (p.Ala93Pro) SNV Uncertain significance 470682 rs1256690084 1:78383702-78383702 1:77918017-77918017
15 NEXN NM_144573.3(NEXN):c.1271C>T (p.Thr424Ile) SNV Uncertain significance 201924 rs200442502 1:78401527-78401527 1:77935842-77935842
16 NEXN NM_144573.3(NEXN):c.1435C>T (p.Leu479Phe) SNV Uncertain significance 201925 rs181520023 1:78401691-78401691 1:77936006-77936006
17 NEXN NM_144573.3(NEXN):c.1918_1922del (p.Tyr640fs) Deletion Uncertain significance 470680 rs1222794437 1:78408401-78408405 1:77942716-77942720
18 NEXN NM_144573.3(NEXN):c.871G>A (p.Glu291Lys) SNV Uncertain significance 470684 rs770120245 1:78395007-78395007 1:77929322-77929322
19 NEXN NM_144573.3(NEXN):c.902T>A (p.Ile301Asn) SNV Uncertain significance 409281 rs373878384 1:78395038-78395038 1:77929353-77929353
20 NEXN NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly) SNV Uncertain significance 229054 rs539665448 1:78401671-78401671 1:77935986-77935986
21 NEXN NM_144573.3(NEXN):c.1997C>A (p.Thr666Asn) SNV Uncertain significance 470681 rs749271412 1:78408483-78408483 1:77942798-77942798
22 NEXN NM_144573.3(NEXN):c.1429A>G (p.Ile477Val) SNV Uncertain significance 470678 rs1553240667 1:78401685-78401685 1:77936000-77936000
23 NEXN NM_144573.3(NEXN):c.643C>G (p.Gln215Glu) SNV Uncertain significance 569703 rs1557981819 1:78392252-78392252 1:77926567-77926567
24 NEXN NM_144573.4(NEXN):c.1053+1G>A SNV Uncertain significance 47886 rs397517843 1:78395190-78395190 1:77929505-77929505
25 NEXN NM_144573.3(NEXN):c.752T>G (p.Phe251Cys) SNV Uncertain significance 575147 rs554389574 1:78392465-78392465 1:77926780-77926780
26 NEXN NM_144573.3(NEXN):c.1664_1666del (p.Arg555_Glu556delinsLys) Deletion Uncertain significance 575564 rs1221963637 1:78408150-78408152 1:77942465-77942467
27 NEXN NM_144573.3(NEXN):c.1430T>C (p.Ile477Thr) SNV Uncertain significance 201934 rs727504658 1:78401686-78401686 1:77936001-77936001
28 NEXN NM_144573.4(NEXN):c.1401_1403AGA[2] (p.Glu470del) Microsatellite Uncertain significance 47890 rs397517846 1:78401657-78401659 1:77935972-77935974
29 NEXN NM_144573.4(NEXN):c.379C>T (p.Arg127Cys) SNV Uncertain significance 229058 rs771113424 1:78383890-78383890 1:77918205-77918205
30 NEXN NM_144573.3(NEXN):c.250G>A (p.Glu84Lys) SNV Uncertain significance 582416 rs547319928 1:78383675-78383675 1:77917990-77917990
31 NEXN NM_144573.4(NEXN):c.86G>T (p.Gly29Val) SNV Uncertain significance 229061 rs876657931 1:78383309-78383309 1:77917624-77917624
32 NEXN NM_144573.3(NEXN):c.1697T>C (p.Met566Thr) SNV Uncertain significance 641866 rs369894742 1:78408183-78408183 1:77942498-77942498
33 NEXN NM_001172309.1(NEXN):c.1561_1563AAG[1] (p.Lys522del) Microsatellite Uncertain significance 47896 rs397517851 1:78408239-78408241 1:77942554-77942556
34 NEXN NM_144573.3(NEXN):c.134G>T (p.Arg45Ile) SNV Uncertain significance 643060 rs946271161 1:78383357-78383357 1:77917672-77917672
35 NEXN NM_144573.3(NEXN):c.857G>A (p.Arg286Gln) SNV Uncertain significance 645036 rs910594117 1:78392570-78392570 1:77926885-77926885
36 NEXN NM_144573.3(NEXN):c.1046G>C (p.Arg349Thr) SNV Uncertain significance 649140 rs898035834 1:78395182-78395182 1:77929497-77929497
37 NEXN NM_144573.3(NEXN):c.2008A>T (p.Thr670Ser) SNV Uncertain significance 658474 rs1571176371 1:78408494-78408494 1:77942809-77942809
38 NEXN NM_144573.4(NEXN):c.1457C>G (p.Ala486Gly) SNV Uncertain significance 47892 rs397517847 1:78401713-78401713 1:77936028-77936028
39 NEXN NM_144573.3(NEXN):c.392A>C (p.Gln131Pro) SNV Uncertain significance 264597 rs397517858 1:78383903-78383903 1:77918218-77918218
40 NEXN NM_144573.3(NEXN):c.542C>T (p.Thr181Ile) SNV Uncertain significance 661519 rs764640427 1:78392151-78392151 1:77926466-77926466
41 NEXN NM_144573.3(NEXN):c.1055T>C (p.Val352Ala) SNV Uncertain significance 662435 rs1040085867 1:78398968-78398968 1:77933283-77933283
42 NEXN NM_144573.3(NEXN):c.431C>T (p.Ala144Val) SNV Uncertain significance 662564 rs767335232 1:78383942-78383942 1:77918257-77918257
43 NEXN NM_144573.3(NEXN):c.1640T>C (p.Ile547Thr) SNV Uncertain significance 201944 rs753636624 1:78407874-78407874 1:77942189-77942189
44 NEXN NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter) SNV Uncertain significance 229051 rs750076188 1:78399087-78399087 1:77933402-77933402
45 NEXN NM_144573.3(NEXN):c.1739G>A (p.Gly580Glu) SNV Uncertain significance 664341 rs560530481 1:78408225-78408225 1:77942540-77942540
46 NEXN NM_144573.3(NEXN):c.1877A>G (p.Glu626Gly) SNV Uncertain significance 665536 rs1571175641 1:78408363-78408363 1:77942678-77942678
47 NEXN NM_144573.3(NEXN):c.1572_1574delAGA Microsatellite Uncertain significance 194130 rs764505909 1:78407806-78407808 1:77942121-77942123
48 NEXN NM_144573.3(NEXN):c.767G>A (p.Arg256Gln) SNV Uncertain significance 538105 rs748921688 1:78392480-78392480 1:77926795-77926795
49 NEXN NM_144573.3(NEXN):c.491A>G (p.Glu164Gly) SNV Uncertain significance 538106 rs1553238441 1:78392100-78392100 1:77926415-77926415
50 NEXN NM_144573.3(NEXN):c.1471G>C (p.Glu491Gln) SNV Uncertain significance 201926 rs373057251 1:78401727-78401727 1:77936042-77936042

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

73
# Symbol AA change Variation ID SNP ID
1 NEXN p.Gln131Glu VAR_065477 rs387907079
2 NEXN p.Arg279Cys VAR_065478 rs146245480

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Expression for Cardiomyopathy, Familial Hypertrophic, 20

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

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

(show all 39)
# Super pathways Score Top Affiliating Genes
1
PAK Pathway 63
Show member pathways
 13.22 TNF IL6 IL5 IL13 IL10 CXCL8
2
Allograft rejection 36 1
Show member pathways
 12.79 TNF IL6 IL5 IL13 IL10 CXCL8
3
Th17 cell differentiation 36
Show member pathways
 12.55 TNF IL6 IL5 IL13 IL10
4
T cell receptor signaling pathway 36
Show member pathways
 12.52 TNF IL6 IL5 IL10
5
JAK-STAT signaling pathway 36
Show member pathways
 12.35 IL6 IL5 IL13 IL10
6
Chemokine Superfamily Pathway: Human/Mouse Ligand-Receptor Interactions 64
Show member pathways
 12.28 TNF IL6 IL10 CXCL8
7
Folate Metabolism 1
Show member pathways
 12.27 TNF IL6 CRP ALB
8
IL-17 Family Signaling Pathways 64
Show member pathways
 12.27 TNF IL6 IL5 IL13 CXCL8
9
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.14 TNF IL6 IL5 IL13 IL10 CXCL8
10
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.08 TNF IL6 IL13 IL10 CXCL8
11
Yersinia infection 36
12.04 TNF IL6 IL10 CXCL8
12
Spinal Cord Injury 1
11.98 TNF MMP12 IL6 CXCL8
13
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.96 TNF IL6 IL5 IL10
14
Amoebiasis 36
11.89 TNF IL6 IL10 CXCL8
15
AGE-RAGE signaling pathway in diabetic complications 36
11.85 TNF IL6 CXCL8
16
Hematopoietic cell lineage 36
11.84 TNF IL6 IL5
17
Interleukin-4 and 13 signaling 65
11.82 TNF IL6 IL13 IL10 CXCL8
18
Rheumatoid arthritis 36
11.81 TNF IL6 CXCL8
19
Glucocorticoid receptor regulatory network 1
11.77 IL6 IL5 IL13 CXCL8
20
Innate Lymphoid Cell Differentiation Pathways 64
11.75 TNF IL5 IL13 IL10
21
Th1 Differentiation Pathway 64
Show member pathways
 11.72 TNF IL6 IL10
22
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.72 TNF IL5 CXCL8
23
Pertussis 36
11.71 TNF IL6 IL10 CXCL8
24
Dendritic Cells Developmental Lineage Pathway 64
11.7 TNF IL6 IL10
25
IgA-Producing B Cells in the Intestine 64
11.63 TNF IL6 IL5 IL10
26
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.62 TNF IL6 CXCL8
27
Legionellosis 36
11.56 TNF IL6 CXCL8
28
Th2 Differentiation Pathway 64
11.47 IL5 IL13 IL10
29
Malaria 36
11.43 TNF IL6 IL10 CXCL8
30
African trypanosomiasis 36
11.37 TNF IL6 IL10
31
IL-10 Pathway 63
11.34 TNF IL6 IL10
32
Interleukin-10 signaling 65
11.24 TNF IL6 IL13 IL10 CXCL8
33
OX40 Pathway 63
11.17 IL5 IL13 IL10
34
Development and heterogeneity of the ILC family 1
11.13 TNF IL6 IL5 IL13
35
Lung fibrosis 1
10.9 TNF IL6 IL5 IL13 ELN CXCL8
36
G-protein signaling_Rap2B regulation pathway 23
10.85 TNF IL6 IL5 IL13 IL10 ELN
37
Overview of nanoparticle effects 1
10.84 TNF IL6 CXCL8 CRP
38
Cytokines and Inflammatory Response 1
10.82 TNF IL6 IL5 IL13 IL10
39
IL-9 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types 64
10.75 IL6 IL5 IL13
Sources

GO Terms for Cardiomyopathy, Familial Hypertrophic, 20

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 TNF SFTPB SCGB1A1 MMP12 IL6 IL5
2 extracellular region GO:0005576 9.4 TNF SFTPB SCGB1A1 MMP12 IL6 IL5

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.91 TNF MMP12 IL6 IL13 CXCL8 CRP
2 immune response GO:0006955 9.88 TNF IL6 IL5 IL13 IL10 CXCL8
3 inflammatory response GO:0006954 9.85 TNF IL6 IL5 IL13 CXCL8 CRP
4 cellular response to lipopolysaccharide GO:0071222 9.78 TNF IL6 IL10 CXCL8
5 defense response to Gram-positive bacterium GO:0050830 9.77 TNF IL6 CRP
6 positive regulation of DNA-binding transcription factor activity GO:0051091 9.76 TNF IL6 IL5 IL10
7 response to organic substance GO:0010033 9.73 TNF SCGB1A1 IL10
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.71 TNF IL6 IL13
9 positive regulation of smooth muscle cell proliferation GO:0048661 9.69 TNF IL6 IL13
10 cytokine-mediated signaling pathway GO:0019221 9.63 TNF IL6 IL5 IL13 IL10 CXCL8
11 response to glucocorticoid GO:0051384 9.62 TNF SCGB1A1 IL6 IL10
12 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.61 TNF IL10
13 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.6 TNF IL6
14 positive regulation of neuroinflammatory response GO:0150078 9.58 TNF IL6
15 positive regulation of podosome assembly GO:0071803 9.58 TNF IL5
16 response to molecule of bacterial origin GO:0002237 9.57 IL10 CXCL8
17 endothelial cell apoptotic process GO:0072577 9.55 TNF IL10
18 vascular endothelial growth factor production GO:0010573 9.52 TNF IL6
19 negative regulation of cytokine production involved in immune response GO:0002719 9.49 TNF IL10
20 negative regulation of lipid storage GO:0010888 9.43 TNF IL6 CRP
21 positive regulation of JAK-STAT cascade GO:0046427 9.26 TNF IL6 IL5 IL10
22 positive regulation of immunoglobulin production GO:0002639 8.92 IL6 IL5 IL13 IL10

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.1 TNF IL6 IL5 IL13 IL10 CXCL8
Sources

Sources for Cardiomyopathy, Familial Hypertrophic, 20

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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