CMH20
MCID: CRD147
MIFTS: 27

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 73
Cmh20 57 12 75
Familial Hypertrophic Cardiomyopathy 20 29 6
Hypertrophic Cardiomyopathy 20 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 20 40
Cardiomyopathy, Familial Hypertrophic 20 75
Cardiomyopathy Familial Hypertrophic 20 12
Cardiomyopathy, Hypertrophic, 20 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 613876
Disease Ontology 12 DOID:0110326
MedGen 42 C3151267
MeSH 44 D024741
UMLS 73 C3151267

Summaries for Cardiomyopathy, Familial Hypertrophic, 20

UniProtKB/Swiss-Prot : 75 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 heart, and related phenotypes are cardiomyopathy 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.

Description from OMIM: 613876

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 20

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

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 20:

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

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

Interventional clinical trials:

(show top 50) (show all 85)
# 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)-Classic™, LMA™ - Flexible and LMA - Proseal™ 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 Alveolar Recruitment Maneuver During Cesarean Section Improves Lung Compliance Completed NCT01826968 Phase 2
11 Safety and Effectiveness of 11b-Hydroxysteroid Dehydrogenase Type 1 Inhibitor (AZD4017) to Treat Idiopathic Intracranial Hypertension. Completed NCT02017444 Phase 2 AZD4017
12 Cough and Swallow Rehab Following Stroke Completed NCT01907321 Phase 1, Phase 2 Measures performed on all subjects
13 Effect of Inspiratory Muscle Training on Recreational Cyclists Recruiting NCT02984189 Phase 2
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 Physiological Study of Minimally Invasive ECCO2R in Exacerbations of COPD Requiring Invasive Mechanical Ventilation Completed NCT02586948 Not Applicable
44 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
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

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

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 20

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

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 20

Variations for Cardiomyopathy, Familial Hypertrophic, 20

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

75
# 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.1955A> G (p.Tyr652Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853197 GRCh37 Chromosome 1, 78408441: 78408441
2 NEXN NM_144573.3(NEXN): c.1955A> G (p.Tyr652Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853197 GRCh38 Chromosome 1, 77942756: 77942756
3 NEXN NM_144573.3(NEXN): c.391C> G (p.Gln131Glu) single nucleotide variant Pathogenic rs387907079 GRCh37 Chromosome 1, 78383902: 78383902
4 NEXN NM_144573.3(NEXN): c.391C> G (p.Gln131Glu) single nucleotide variant Pathogenic rs387907079 GRCh38 Chromosome 1, 77918217: 77918217
5 NEXN NM_144573.3(NEXN): c.835C> T (p.Arg279Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146245480 GRCh37 Chromosome 1, 78392548: 78392548
6 NEXN NM_144573.3(NEXN): c.835C> T (p.Arg279Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146245480 GRCh38 Chromosome 1, 77926863: 77926863
7 NEXN NM_144573.3(NEXN): c.1053+1G> A single nucleotide variant Uncertain significance rs397517843 GRCh37 Chromosome 1, 78395190: 78395190
8 NEXN NM_144573.3(NEXN): c.1053+1G> A single nucleotide variant Uncertain significance rs397517843 GRCh38 Chromosome 1, 77929505: 77929505
9 NEXN NM_144573.3(NEXN): c.1112C> T (p.Pro371Leu) single nucleotide variant Uncertain significance rs200067011 GRCh37 Chromosome 1, 78399025: 78399025
10 NEXN NM_144573.3(NEXN): c.1112C> T (p.Pro371Leu) single nucleotide variant Uncertain significance rs200067011 GRCh38 Chromosome 1, 77933340: 77933340
11 NEXN NM_144573.3(NEXN): c.1368A> C (p.Gly456=) single nucleotide variant Likely benign rs397517845 GRCh37 Chromosome 1, 78401624: 78401624
12 NEXN NM_144573.3(NEXN): c.1368A> C (p.Gly456=) single nucleotide variant Likely benign rs397517845 GRCh38 Chromosome 1, 77935939: 77935939
13 NEXN NM_144573.3(NEXN): c.1407_1409delAGA (p.Glu470del) deletion Uncertain significance rs397517846 GRCh37 Chromosome 1, 78401663: 78401665
14 NEXN NM_144573.3(NEXN): c.1407_1409delAGA (p.Glu470del) deletion Uncertain significance rs397517846 GRCh38 Chromosome 1, 77935978: 77935980
15 NEXN NM_144573.3(NEXN): c.1677_1682delGGAGGA (p.Glu561_Glu562del) deletion Conflicting interpretations of pathogenicity rs397517848 GRCh37 Chromosome 1, 78408163: 78408168
16 NEXN NM_144573.3(NEXN): c.1677_1682delGGAGGA (p.Glu561_Glu562del) deletion Conflicting interpretations of pathogenicity rs397517848 GRCh38 Chromosome 1, 77942478: 77942483
17 NEXN NM_144573.3(NEXN): c.1788T> G (p.Ser596Arg) single nucleotide variant Uncertain significance rs199738750 GRCh37 Chromosome 1, 78408274: 78408274
18 NEXN NM_144573.3(NEXN): c.1788T> G (p.Ser596Arg) single nucleotide variant Uncertain significance rs199738750 GRCh38 Chromosome 1, 77942589: 77942589
19 NEXN NM_144573.3(NEXN): c.1949_1951delGAG (p.Gly650del) deletion Conflicting interpretations of pathogenicity rs397517853 GRCh37 Chromosome 1, 78408435: 78408437
20 NEXN NM_144573.3(NEXN): c.1949_1951delGAG (p.Gly650del) deletion Conflicting interpretations of pathogenicity rs397517853 GRCh38 Chromosome 1, 77942750: 77942752
21 NEXN NM_144573.3(NEXN): c.363G> A (p.Thr121=) single nucleotide variant Benign/Likely benign rs35117963 GRCh37 Chromosome 1, 78383874: 78383874
22 NEXN NM_144573.3(NEXN): c.363G> A (p.Thr121=) single nucleotide variant Benign/Likely benign rs35117963 GRCh38 Chromosome 1, 77918189: 77918189
23 NEXN NM_144573.3(NEXN): c.613G> A (p.Glu205Lys) single nucleotide variant Uncertain significance rs201447781 GRCh37 Chromosome 1, 78392222: 78392222
24 NEXN NM_144573.3(NEXN): c.613G> A (p.Glu205Lys) single nucleotide variant Uncertain significance rs201447781 GRCh38 Chromosome 1, 77926537: 77926537
25 NEXN NM_144573.3(NEXN): c.732C> A (p.Pro244=) single nucleotide variant Conflicting interpretations of pathogenicity rs201171783 GRCh37 Chromosome 1, 78392445: 78392445
26 NEXN NM_144573.3(NEXN): c.732C> A (p.Pro244=) single nucleotide variant Conflicting interpretations of pathogenicity rs201171783 GRCh38 Chromosome 1, 77926760: 77926760
27 NEXN NM_144573.3(NEXN): c.777A> G (p.Gln259=) single nucleotide variant Benign/Likely benign rs375544798 GRCh37 Chromosome 1, 78392490: 78392490
28 NEXN NM_144573.3(NEXN): c.777A> G (p.Gln259=) single nucleotide variant Benign/Likely benign rs375544798 GRCh38 Chromosome 1, 77926805: 77926805
29 NEXN NM_144573.3(NEXN): c.893C> G (p.Thr298Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200753280 GRCh37 Chromosome 1, 78395029: 78395029
30 NEXN NM_144573.3(NEXN): c.893C> G (p.Thr298Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200753280 GRCh38 Chromosome 1, 77929344: 77929344
31 NEXN NM_144573.3(NEXN): c.995A> C (p.Glu332Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201763096 GRCh37 Chromosome 1, 78395131: 78395131
32 NEXN NM_144573.3(NEXN): c.995A> C (p.Glu332Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201763096 GRCh38 Chromosome 1, 77929446: 77929446
33 NEXN NM_144573.3(NEXN): c.1408G> C (p.Glu470Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs35366555 GRCh37 Chromosome 1, 78401664: 78401664
34 NEXN NM_144573.3(NEXN): c.1408G> C (p.Glu470Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs35366555 GRCh38 Chromosome 1, 77935979: 77935979
35 NEXN NM_144573.3(NEXN): c.237T> C (p.Ala79=) single nucleotide variant Likely benign rs727504549 GRCh38 Chromosome 1, 77917977: 77917977
36 NEXN NM_144573.3(NEXN): c.237T> C (p.Ala79=) single nucleotide variant Likely benign rs727504549 GRCh37 Chromosome 1, 78383662: 78383662
37 NEXN NM_144573.3(NEXN): c.586C> T (p.Arg196Cys) single nucleotide variant Uncertain significance rs369486891 GRCh38 Chromosome 1, 77926510: 77926510
38 NEXN NM_144573.3(NEXN): c.586C> T (p.Arg196Cys) single nucleotide variant Uncertain significance rs369486891 GRCh37 Chromosome 1, 78392195: 78392195
39 NEXN NM_144573.3(NEXN): c.949A> C (p.Met317Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs559464457 GRCh38 Chromosome 1, 77929400: 77929400
40 NEXN NM_144573.3(NEXN): c.949A> C (p.Met317Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs559464457 GRCh37 Chromosome 1, 78395085: 78395085
41 NEXN NM_144573.3(NEXN): c.1029G> A (p.Ala343=) single nucleotide variant Conflicting interpretations of pathogenicity rs374260457 GRCh38 Chromosome 1, 77929480: 77929480
42 NEXN NM_144573.3(NEXN): c.1029G> A (p.Ala343=) single nucleotide variant Conflicting interpretations of pathogenicity rs374260457 GRCh37 Chromosome 1, 78395165: 78395165
43 NEXN NM_144573.3(NEXN): c.1582G> C (p.Glu528Gln) single nucleotide variant Likely benign rs200071700 GRCh37 Chromosome 1, 78407816: 78407816
44 NEXN NM_144573.3(NEXN): c.1582G> C (p.Glu528Gln) single nucleotide variant Likely benign rs200071700 GRCh38 Chromosome 1, 77942131: 77942131
45 NEXN NM_144573.3(NEXN): c.1582_1584delGAA (p.Glu528del) deletion Uncertain significance rs794727077 GRCh37 Chromosome 1, 78407816: 78407818
46 NEXN NM_144573.3(NEXN): c.1582_1584delGAA (p.Glu528del) deletion Uncertain significance rs794727077 GRCh38 Chromosome 1, 77942131: 77942133
47 NEXN NM_144573.3(NEXN): c.242A> T (p.Asp81Val) single nucleotide variant Uncertain significance rs367871780 GRCh38 Chromosome 1, 77917982: 77917982
48 NEXN NM_144573.3(NEXN): c.242A> T (p.Asp81Val) single nucleotide variant Uncertain significance rs367871780 GRCh37 Chromosome 1, 78383667: 78383667
49 NEXN NM_144573.3(NEXN): c.512T> C (p.Ile171Thr) single nucleotide variant Benign/Likely benign rs372065024 GRCh37 Chromosome 1, 78392121: 78392121
50 NEXN NM_144573.3(NEXN): c.512T> C (p.Ile171Thr) single nucleotide variant Benign/Likely benign rs372065024 GRCh38 Chromosome 1, 77926436: 77926436

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 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 for Cardiomyopathy, Familial Hypertrophic, 20

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17 ExPASy
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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