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CMH20
MCID: CRD147
MIFTS: 36

Cardiomyopathy, Familial Hypertrophic, 20 (CMH20)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues 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 58 13 74
Cmh20 58 12 76
Familial Hypertrophic Cardiomyopathy 20 30 6
Hypertrophic Cardiomyopathy 20 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 20 41
Cardiomyopathy, Familial Hypertrophic 20 76
Cardiomyopathy Familial Hypertrophic 20 12
Cardiomyopathy, Hypertrophic, 20 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cardiomyopathy, familial hypertrophic, 20:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110326
OMIM 58 613876
MeSH 45 D024741
MedGen 43 C3151267
UMLS 74 C3151267
Sources

Summaries for Cardiomyopathy, Familial Hypertrophic, 20

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UniProtKB/Swiss-Prot : 76 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 Genistein and Anesthetics 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.

Description from OMIM: 613876
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Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 20

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Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 20:

33
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 33 occasional (7.5%) HP:0005110
2 cardiomyopathy 33 HP:0001638
3 left ventricular hypertrophy 33 HP:0001712

Symptoms via clinical synopsis from OMIM:

58
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:

27
# 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
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 top 50) (show all 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Genistein Investigational Phase 4 446-72-0 5280961
2 Anesthetics Phase 4,Not Applicable
3
Benzocaine Approved, Investigational Phase 2, Phase 3,Not Applicable 94-09-7, 1994-09-7 2337
4
tannic acid Approved Phase 2, Phase 3,Not Applicable 1401-55-4
5 Muscarinic Antagonists Phase 3
6 Solifenacin succinate Phase 3 242478-38-2
7 Neurotransmitter Agents Phase 3,Not Applicable
8 Cholinergic Agents Phase 3
9 Cholinergic Antagonists Phase 3
10
Sulfamethazine Approved, Investigational, Vet_approved Phase 2,Not Applicable 57-68-1 5327
11
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
12
Capsaicin Approved Phase 1, Phase 2 404-86-4 1548943
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
14
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
15 Vitamin B3 Phase 2
16 Folate Phase 2
17 Vitamin B9 Phase 2
18 Micronutrients Phase 2
19 Nutrients Phase 2
20 Vitamin B Complex Phase 2
21 Nicotinic Acids Phase 2
22 Trace Elements Phase 2
23 Vitamins Phase 2
24 Peripheral Nervous System Agents Phase 1, Phase 2,Not Applicable
25 Dermatologic Agents Phase 1, Phase 2
26 Antipruritics Phase 1, Phase 2
27
Milrinone Approved 78415-72-2 4197
28
Sevoflurane Approved, Vet_approved Not Applicable 28523-86-6 5206
29
Chlorhexidine Approved, Vet_approved Not Applicable 55-56-1 2713 9552079
30
Silicon Approved, Investigational Not Applicable 7440-21-3 4082203
31
Acetylcholine Approved, Investigational 51-84-3 187
32
Nitric Oxide Approved Not Applicable 10102-43-9 145068
33
Sorbitol Approved Not Applicable 50-70-4 5780
34
Magnesium Sulfate Approved, Investigational, Vet_approved 7487-88-9 24083
35
Ethanol Approved Not Applicable 64-17-5 702
36
Calcium Approved, Nutraceutical 7440-70-2 271
37 Calamus Not Applicable
38 Cardiotonic Agents ,Not Applicable
39 Phosphodiesterase 3 Inhibitors
40 Platelet Aggregation Inhibitors
41 Phosphodiesterase Inhibitors
42 Protective Agents ,Not Applicable
43 Vasodilator Agents ,Not Applicable
44 Central Nervous System Depressants Not Applicable
45 Bronchodilator Agents Not Applicable
46 Respiratory System Agents Not Applicable
47 adrenomedullin Not Applicable
48 Antihypertensive Agents Not Applicable
49 Anti-Asthmatic Agents Not Applicable
50 Autonomic Agents Not Applicable

Interventional clinical trials:

(show top 50) (show all 86)
# Name Status NCT ID Phase Drugs
1 Functional Residual Capacity (FRC) Guided Alveolar Recruitment Strategy Completed NCT00779090 Phase 4
2 Comparison in Difficult Airway Scenario Induced in Patients With Laryngeal Mask Airway (LMA)-Classicâ„¢, LMAâ„¢ - Flexible and LMA - Prosealâ„¢ Completed NCT02979171 Phase 4
3 Effects of a Goal-directed Hemodynamic Therapy Driven by ECOM on Morbidity and Mortality After Cardiac Surgery? Completed NCT01535716 Phase 4
4 Effects of Physical Training and Isoflavone Supplementation On Pelvic Floor in Women in the Postmenopausal Period Completed NCT03167827 Phase 4
5 Decreasing Upper and Shoulder Pain After Laparoscopic Surgery Unknown status NCT01433874 Phase 3
6 NIV Strategies for RDS in Preterm Infants. NIV (Non Invasive Ventilation), RDS (Respiratory Distress Syndrome) Completed NCT02259400 Phase 2, Phase 3
7 A Clinical Study to Investigate How Solifenacin Fluid is Taken up, How Long it Stays in the Body and How Effective and Safe it is in Treating Children Aged From 6 Months to Less Than 5 Years With Symptoms of Neurogenic Detrusor Overactivity (NDO) Completed NCT01981954 Phase 3 Solifenacin succinate
8 pRotective vEntilation With Veno-venouS Lung assisT in Respiratory Failure Recruiting NCT02654327 Phase 3
9 The Oscillation for Acute Respiratory Distress Syndrome (ARDS) Treated Early (OSCILLATE) Trial Terminated NCT01506401 Phase 3
10 Effect of Inspiratory Muscle Training on Recreational Cyclists Unknown status NCT02984189 Phase 2
11 Alveolar Recruitment Maneuver During Cesarean Section Improves Lung Compliance Completed NCT01826968 Phase 2
12 Safety and Effectiveness of 11b-Hydroxysteroid Dehydrogenase Type 1 Inhibitor (AZD4017) to Treat Idiopathic Intracranial Hypertension. Completed NCT02017444 Phase 2 AZD4017
13 Cough and Swallow Rehab Following Stroke Completed NCT01907321 Phase 1, Phase 2 Measures performed on all subjects
14 Inspiratory Muscle Training Combined With General Exercise Training in COPD Unknown status NCT02392715 Not Applicable
15 E-T Tube Cuff Pressure Change After Changing Position From Neutral to Hyperextension of Neck Unknown status NCT02949856 Not Applicable
16 Evaluation of the Effects of Fluid Therapy on Respiratory Mechanics Unknown status NCT02071524 Not Applicable Group Colloid;Cristalloid administration
17 Effects of PEEP on Intracranial and Intraocular Pressure in Robot-assisted Laparoscopic Radical Prostatectomy Unknown status NCT03031613 Not Applicable
18 Evaluation of the Fast Fill Technique for Anal Acoustic Reflectometry (AAR) in the Incontinent Anal Sphincter Unknown status NCT02782364
19 Preoperative Inspiratory Muscle Training in Gastroplasty Unknown status NCT02478619 Not Applicable
20 Inflammatory Effects of a Lung Recruitment Manoeuvre Unknown status NCT01070654 Not Applicable
21 Weaning From Noninvasive Ventilation Unknown status NCT02845076 Not Applicable
22 Milrinone Pharmacokinetics and Acute Kidney Injury Unknown status NCT01966237
23 Exercise Prior to Oesophagectomy Unknown status NCT02962219 Not Applicable
24 Comparison of the Hemodynamic Safety of Two Common Alveolar Recruitment Manoeuvres With Regard to Cardiac Output in a Surgical Intensive Care Unit Completed NCT02805036
25 Continuous Positive Airway Pressure Decreased Lung Collapse During General Anesthesia Induction in Pediatric Patients Completed NCT03461770 Not Applicable
26 Does Pulmonary Compliance Optimization Through PEEP Manipulations Reduces the Incidence of Postoperative Hypoxaemia in Bariatric Surgery? Completed NCT02579798 Not Applicable
27 Adrenomedullin Changes After Sustained Inflation or Positive Pressure Ventilation at Birth Completed NCT03437499 Not Applicable
28 Prophylactic nCPAP in the PACU Following Elective Laparotomy for Bowel Surgery Completed NCT02077842 Not Applicable
29 Mechanical Ventilation in Brain-injured Patients Completed NCT01885507
30 Prophylactic nCPAP Following Bowel Surgery (Bio-REB File 11-27) Completed NCT01316575 Not Applicable
31 Wean Obese Study : Determination of the Optimal Spontaneous Breathing Trial for Obese Patient Completed NCT01616901 Not Applicable
32 Sleep-Disordered Breathing in Chronic SCI Completed NCT02176928 Not Applicable
33 Detrusor Contraction During the Ice-water-test Completed NCT01773213 Not Applicable
34 Effect of Inspiratory Muscle Training on the Performance of Handball Athletes Completed NCT02650882 Not Applicable
35 Effects of Respiratory Muscle Training on Postoperative Pulmonary Complications of Cardiac Surgery Completed NCT03094923 Not Applicable
36 Impact of Automatic Positive Airway Pressure on Treatment Compliance in OSA Patients Awaiting Bariatric Surgery Completed NCT02209220 Not Applicable
37 Relationship Between Optimal Laryngeal Mask Airway Cuff Volume and Physical Examination of Head and Neck Completed NCT02502422 Not Applicable
38 Criteria Analysis for Ventilatory Support Adjustment of Mechanical Ventilation Completed NCT02743624 Not Applicable
39 Clinical Comparison of Different Humidification Strategies During Noninvasive Ventilation With Helmet Completed NCT02875379 Not Applicable
40 HFNC Flow Titration and Effort of Breathing in the PICU Completed NCT02793674 Not Applicable
41 Positive Airway Pressure Versus Breathing Exercises With Load Inspiratory in Patients Undergoing Bariatric Surgery Completed NCT02682771 Not Applicable
42 Validation of HC250 and HC240 Series. Completed NCT00739011 Not Applicable
43 An Investigation to Test the Efficacy of the High Flow (HF) Continuous Positive Airway Pressure (CPAP) in Patients With Obstructive Sleep Apnea (OSA) Completed NCT01025440 Not Applicable
44 Physiological Study of Minimally Invasive ECCO2R in Exacerbations of COPD Requiring Invasive Mechanical Ventilation Completed NCT02586948 Not Applicable
45 Non-invasive Ventilation Versus Continuous Positive Airway Pressure in Cardiogenic Pulmonary Edema Completed NCT02977572 Not Applicable
46 ICU Acquired Neuromyopathy and Diaphragm Function Completed NCT01968889
47 Comparison of the Ability of the esCCO and the Volume View to Measure Trends in Cardiac Output During Cardiac Surgery Completed NCT02964663
48 Helmet Continuous Positive Airway Pressure (CPAP) Versus Oxygen Venturi in Severe Acute Respiratory Failure in Pneumonia Completed NCT01383213 Not Applicable
49 EPO2-PV: Evaluation of Pre-Oxygenation Conditions in Morbidly Obese Volunteer: Effect of Position and Ventilation Mode Completed NCT02121808 Not Applicable
50 Acute Effects of Open and Closed Suction Systems in Mechanically Ventilated Patients Completed NCT03256214 Not Applicable

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 30 NEXN
Sources

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 20

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

42
Lung, Heart, Testes, Liver, Brain, Kidney
Sources

Publications for Cardiomyopathy, Familial Hypertrophic, 20

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Variations for Cardiomyopathy, Familial Hypertrophic, 20

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

76
# Symbol AA change Variation ID SNP ID
1 NEXN p.Gln131Glu VAR_065477 rs387907079
2 NEXN p.Arg279Cys VAR_065478 rs146245480

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

6 (show top 50) (show all 138)
# Gene Variation Type Significance SNP ID Assembly Location
1 NEXN NM_144573.3(NEXN): c.237T> C (p.Ala79=) single nucleotide variant Likely benign rs727504549 GRCh38 Chromosome 1, 77917977: 77917977
2 NEXN NM_144573.3(NEXN): c.237T> C (p.Ala79=) single nucleotide variant Likely benign rs727504549 GRCh37 Chromosome 1, 78383662: 78383662
3 NEXN NM_144573.3(NEXN): c.586C> T (p.Arg196Cys) single nucleotide variant Uncertain significance rs369486891 GRCh38 Chromosome 1, 77926510: 77926510
4 NEXN NM_144573.3(NEXN): c.586C> T (p.Arg196Cys) single nucleotide variant Uncertain significance rs369486891 GRCh37 Chromosome 1, 78392195: 78392195
5 NEXN NM_144573.3(NEXN): c.949A> C (p.Met317Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs559464457 GRCh38 Chromosome 1, 77929400: 77929400
6 NEXN NM_144573.3(NEXN): c.949A> C (p.Met317Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs559464457 GRCh37 Chromosome 1, 78395085: 78395085
7 NEXN NM_144573.3(NEXN): c.1029G> A (p.Ala343=) single nucleotide variant Conflicting interpretations of pathogenicity rs374260457 GRCh38 Chromosome 1, 77929480: 77929480
8 NEXN NM_144573.3(NEXN): c.1029G> A (p.Ala343=) single nucleotide variant Conflicting interpretations of pathogenicity rs374260457 GRCh37 Chromosome 1, 78395165: 78395165
9 NEXN NM_144573.3(NEXN): c.1582G> C (p.Glu528Gln) single nucleotide variant Likely benign rs200071700 GRCh37 Chromosome 1, 78407816: 78407816
10 NEXN NM_144573.3(NEXN): c.1582G> C (p.Glu528Gln) single nucleotide variant Likely benign rs200071700 GRCh38 Chromosome 1, 77942131: 77942131
11 NEXN NM_144573.3(NEXN): c.1582_1584delGAA (p.Glu528del) deletion Uncertain significance rs764505909 GRCh37 Chromosome 1, 78407816: 78407818
12 NEXN NM_144573.3(NEXN): c.1582_1584delGAA (p.Glu528del) deletion Uncertain significance rs764505909 GRCh38 Chromosome 1, 77942131: 77942133
13 NEXN NM_144573.3(NEXN): c.242A> T (p.Asp81Val) single nucleotide variant Uncertain significance rs367871780 GRCh38 Chromosome 1, 77917982: 77917982
14 NEXN NM_144573.3(NEXN): c.242A> T (p.Asp81Val) single nucleotide variant Uncertain significance rs367871780 GRCh37 Chromosome 1, 78383667: 78383667
15 NEXN NM_144573.3(NEXN): c.512T> C (p.Ile171Thr) single nucleotide variant Benign/Likely benign rs372065024 GRCh37 Chromosome 1, 78392121: 78392121
16 NEXN NM_144573.3(NEXN): c.512T> C (p.Ile171Thr) single nucleotide variant Benign/Likely benign rs372065024 GRCh38 Chromosome 1, 77926436: 77926436
17 NEXN NM_144573.3(NEXN): c.856C> T (p.Arg286Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199917913 GRCh37 Chromosome 1, 78392569: 78392569
18 NEXN NM_144573.3(NEXN): c.856C> T (p.Arg286Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199917913 GRCh38 Chromosome 1, 77926884: 77926884
19 NEXN NM_144573.3(NEXN): c.1271C> T (p.Thr424Ile) single nucleotide variant Uncertain significance rs200442502 GRCh37 Chromosome 1, 78401527: 78401527
20 NEXN NM_144573.3(NEXN): c.1271C> T (p.Thr424Ile) single nucleotide variant Uncertain significance rs200442502 GRCh38 Chromosome 1, 77935842: 77935842
21 NEXN NM_144573.3(NEXN): c.1419_1421delAAG (p.Arg475del) deletion Uncertain significance rs794729091 GRCh37 Chromosome 1, 78401675: 78401677
22 NEXN NM_144573.3(NEXN): c.1419_1421delAAG (p.Arg475del) deletion Uncertain significance rs794729091 GRCh38 Chromosome 1, 77935990: 77935992
23 NEXN NM_144573.3(NEXN): c.1430T> C (p.Ile477Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 78401686: 78401686
24 NEXN NM_144573.3(NEXN): c.1430T> C (p.Ile477Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 77936001: 77936001
25 NEXN NM_144573.3(NEXN): c.1435C> T (p.Leu479Phe) single nucleotide variant Uncertain significance rs181520023 GRCh37 Chromosome 1, 78401691: 78401691
26 NEXN NM_144573.3(NEXN): c.1435C> T (p.Leu479Phe) single nucleotide variant Uncertain significance rs181520023 GRCh38 Chromosome 1, 77936006: 77936006
27 NEXN NM_144573.3(NEXN): c.1471G> C (p.Glu491Gln) single nucleotide variant Uncertain significance rs373057251 GRCh37 Chromosome 1, 78401727: 78401727
28 NEXN NM_144573.3(NEXN): c.1471G> C (p.Glu491Gln) single nucleotide variant Uncertain significance rs373057251 GRCh38 Chromosome 1, 77936042: 77936042
29 NEXN NM_144573.3(NEXN): c.1618A> G (p.Met540Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201390657 GRCh37 Chromosome 1, 78407852: 78407852
30 NEXN NM_144573.3(NEXN): c.1618A> G (p.Met540Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201390657 GRCh38 Chromosome 1, 77942167: 77942167
31 NEXN NM_144573.3(NEXN): c.1680_1682delGGA (p.Glu562del) deletion Conflicting interpretations of pathogenicity rs397517848 GRCh37 Chromosome 1, 78408166: 78408168
32 NEXN NM_144573.3(NEXN): c.1680_1682delGGA (p.Glu562del) deletion Conflicting interpretations of pathogenicity rs397517848 GRCh38 Chromosome 1, 77942481: 77942483
33 NEXN NM_144573.3(NEXN): c.1955A> G (p.Tyr652Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853197 GRCh37 Chromosome 1, 78408441: 78408441
34 NEXN NM_144573.3(NEXN): c.1955A> G (p.Tyr652Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853197 GRCh38 Chromosome 1, 77942756: 77942756
35 NEXN NM_144573.3(NEXN): c.391C> G (p.Gln131Glu) single nucleotide variant Pathogenic rs387907079 GRCh37 Chromosome 1, 78383902: 78383902
36 NEXN NM_144573.3(NEXN): c.391C> G (p.Gln131Glu) single nucleotide variant Pathogenic rs387907079 GRCh38 Chromosome 1, 77918217: 77918217
37 NEXN NM_144573.3(NEXN): c.835C> T (p.Arg279Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146245480 GRCh37 Chromosome 1, 78392548: 78392548
38 NEXN NM_144573.3(NEXN): c.835C> T (p.Arg279Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146245480 GRCh38 Chromosome 1, 77926863: 77926863
39 NEXN NM_144573.3(NEXN): c.1949_1951delGAG (p.Gly650del) deletion Conflicting interpretations of pathogenicity rs397517853 GRCh37 Chromosome 1, 78408435: 78408437
40 NEXN NM_144573.3(NEXN): c.1053+1G> A single nucleotide variant Uncertain significance rs397517843 GRCh37 Chromosome 1, 78395190: 78395190
41 NEXN NM_144573.3(NEXN): c.1053+1G> A single nucleotide variant Uncertain significance rs397517843 GRCh38 Chromosome 1, 77929505: 77929505
42 NEXN NM_144573.3(NEXN): c.1112C> T (p.Pro371Leu) single nucleotide variant Uncertain significance rs200067011 GRCh37 Chromosome 1, 78399025: 78399025
43 NEXN NM_144573.3(NEXN): c.1112C> T (p.Pro371Leu) single nucleotide variant Uncertain significance rs200067011 GRCh38 Chromosome 1, 77933340: 77933340
44 NEXN NM_144573.3(NEXN): c.1368A> C (p.Gly456=) single nucleotide variant Likely benign rs397517845 GRCh37 Chromosome 1, 78401624: 78401624
45 NEXN NM_144573.3(NEXN): c.1368A> C (p.Gly456=) single nucleotide variant Likely benign rs397517845 GRCh38 Chromosome 1, 77935939: 77935939
46 NEXN NM_144573.3(NEXN): c.1407_1409delAGA (p.Glu470del) deletion Uncertain significance rs397517846 GRCh37 Chromosome 1, 78401663: 78401665
47 NEXN NM_144573.3(NEXN): c.1407_1409delAGA (p.Glu470del) deletion Uncertain significance rs397517846 GRCh38 Chromosome 1, 77935978: 77935980
48 NEXN NM_144573.3(NEXN): c.1677_1682delGGAGGA (p.Glu561_Glu562del) deletion Conflicting interpretations of pathogenicity rs397517848 GRCh37 Chromosome 1, 78408163: 78408168
49 NEXN NM_144573.3(NEXN): c.1677_1682delGGAGGA (p.Glu561_Glu562del) deletion Conflicting interpretations of pathogenicity rs397517848 GRCh38 Chromosome 1, 77942478: 77942483
50 NEXN NM_144573.3(NEXN): c.1788T> G (p.Ser596Arg) single nucleotide variant Uncertain significance rs199738750 GRCh37 Chromosome 1, 78408274: 78408274
Sources

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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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 rough endoplasmic reticulum GO:0005791 9.32 RPS26 RPS29
2 cytosolic small ribosomal subunit GO:0022627 9.26 RPS26 RPS29
3 polysomal ribosome GO:0042788 9.16 RPS26 RPS29
4 small ribosomal subunit GO:0015935 8.96 RPS26 RPS29
5 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 8.62 RPS26 RPS29

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 RPS26 RPS29
2 cornification GO:0070268 9.26 KRT86 PPL
3 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.16 RPS26 RPS29
4 cytoplasmic translation GO:0002181 8.96 RPS26 RPS29
5 translational initiation GO:0006413 8.8 ABCE1 RPS26 RPS29
Sources

Sources for Cardiomyopathy, Familial Hypertrophic, 20

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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