MCID: CRD147
MIFTS: 36

Cardiomyopathy, Familial Hypertrophic, 20

Categories: Genetic diseases, Cardiovascular diseases, Rare 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, also known as cmh20, is related to pierre robin syndrome. 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 liver, and related phenotypes are cardiomyopathy and left ventricular hypertrophy

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

Description from OMIM: 613876

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 20

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 20

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
left ventricular hypertrophy
septal hypertrophy, asymmetric interventricular
left ventricular anterior wall hypertrophy (in some patients)
atrial fibrillation (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 57)
# 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 1994-09-7, 94-09-7 2337
4 tannic acid Approved, Nutraceutical Phase 2, Phase 3,Not Applicable
5 Cholinergic Agents Phase 3
6 Cholinergic Antagonists Phase 3
7 Muscarinic Antagonists Phase 3
8 Neurotransmitter Agents Phase 3
9 Solifenacin succinate Phase 3 242478-38-2
10
Capsaicin Approved Phase 1, Phase 2 404-86-4 1548943
11
Menthol Approved Phase 2,Not Applicable 2216-51-5 16666
12
Sulfamethazine Approved, Investigational, Vet_approved Phase 2 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
Nicotinamide Approved, Investigational, Nutraceutical Phase 2 98-92-0 936
16 Micronutrients Phase 2
17 Nicotinic Acids Phase 2
18 Trace Elements Phase 2
19 Vitamin B Complex Phase 2
20 Vitamins Phase 2
21 Antipruritics Phase 1, Phase 2,Not Applicable
22 Dermatologic Agents Phase 1, Phase 2,Not Applicable
23 Peripheral Nervous System Agents Phase 1, Phase 2
24 Folate Nutraceutical Phase 2
25 Vitamin B3 Nutraceutical Phase 2
26 Vitamin B9 Nutraceutical Phase 2
27
Milrinone Approved 78415-72-2 4197
28
Chlorhexidine Approved, Vet_approved Not Applicable 55-56-1 9552079 2713
29
Silicon Approved, Investigational Not Applicable 7440-21-3 4082203
30
Acetylcholine Approved 51-84-3 187
31
Magnesium Sulfate Approved, Investigational, Vet_approved 7487-88-9 24083
32
Ethanol Approved Not Applicable 64-17-5 702
33 Phosphodiesterase 3 Inhibitors
34 Phosphodiesterase Inhibitors
35 Platelet Aggregation Inhibitors
36 Protective Agents
37 Vasodilator Agents
38 Anesthetics, Local Not Applicable
39 Anti-Infective Agents Not Applicable
40 Anti-Infective Agents, Local Not Applicable
41 Chlorhexidine gluconate Not Applicable
42 Disinfectants Not Applicable
43 Neuromuscular Blocking Agents Not Applicable
44 abobotulinumtoxinA
45 Botulinum Toxins
46 Botulinum Toxins, Type A
47 Neuromuscular Agents
48 onabotulinumtoxinA
49 Analgesics ,Not Applicable
50 Anti-Arrhythmia Agents

Interventional clinical trials:

(show top 50) (show all 75)
# 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 Evaluation of the Fast Fill Technique for Anal Acoustic Reflectometry (AAR) in the Incontinent Anal Sphincter Unknown status NCT02782364
16 Preoperative Inspiratory Muscle Training in Gastroplasty Unknown status NCT02478619 Not Applicable
17 Inflammatory Effects of a Lung Recruitment Manoeuvre Unknown status NCT01070654 Not Applicable
18 Weaning From Noninvasive Ventilation Unknown status NCT02845076 Not Applicable
19 Milrinone Pharmacokinetics and Acute Kidney Injury Unknown status NCT01966237
20 Comparison of the Hemodynamic Safety of Two Common Alveolar Recruitment Manoeuvres With Regard to Cardiac Output in a Surgical Intensive Care Unit Completed NCT02805036
21 Does Pulmonary Compliance Optimization Through PEEP Manipulations Reduces the Incidence of Postoperative Hypoxaemia in Bariatric Surgery? Completed NCT02579798 Not Applicable
22 Adrenomedullin Changes After Sustained Inflation or Positive Pressure Ventilation at Birth Completed NCT03437499 Not Applicable
23 Prophylactic nCPAP in the PACU Following Elective Laparotomy for Bowel Surgery Completed NCT02077842 Not Applicable
24 Mechanical Ventilation in Brain-injured Patients Completed NCT01885507
25 Prophylactic nCPAP Following Bowel Surgery (Bio-REB File 11-27) Completed NCT01316575 Not Applicable
26 Wean Obese Study : Determination of the Optimal Spontaneous Breathing Trial for Obese Patient Completed NCT01616901 Not Applicable
27 Detrusor Contraction During the Ice-water-test Completed NCT01773213 Not Applicable
28 Effect of Inspiratory Muscle Training on the Performance of Handball Athletes Completed NCT02650882 Not Applicable
29 Effects of Respiratory Muscle Training on Postoperative Pulmonary Complications of Cardiac Surgery Completed NCT03094923 Not Applicable
30 Impact of Automatic Positive Airway Pressure on Treatment Compliance in OSA Patients Awaiting Bariatric Surgery Completed NCT02209220 Not Applicable
31 Relationship Between Optimal Laryngeal Mask Airway Cuff Volume and Physical Examination of Head and Neck Completed NCT02502422 Not Applicable
32 Criteria Analysis for Ventilatory Support Adjustment of Mechanical Ventilation Completed NCT02743624 Not Applicable
33 Positive Airway Pressure Versus Breathing Exercises With Load Inspiratory in Patients Undergoing Bariatric Surgery Completed NCT02682771 Not Applicable
34 Validation of HC250 and HC240 Series. Completed NCT00739011 Not Applicable
35 Physiological Study of Minimally Invasive ECCO2R in Exacerbations of COPD Requiring Invasive Mechanical Ventilation Completed NCT02586948 Not Applicable
36 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
37 Non-invasive Ventilation Versus Continuous Positive Airway Pressure in Cardiogenic Pulmonary Edema Completed NCT02977572 Not Applicable
38 ICU Acquired Neuromyopathy and Diaphragm Function Completed NCT01968889
39 Comparison of the Ability of the esCCO and the Volume View to Measure Trends in Cardiac Output During Cardiac Surgery Completed NCT02964663
40 Helmet Continuous Positive Airway Pressure (CPAP) Versus Oxygen Venturi in Severe Acute Respiratory Failure in Pneumonia Completed NCT01383213 Not Applicable
41 EPO2-PV: Evaluation of Pre-Oxygenation Conditions in Morbidly Obese Volunteer: Effect of Position and Ventilation Mode Completed NCT02121808 Not Applicable
42 Acute Effects of Open and Closed Suction Systems in Mechanically Ventilated Patients Completed NCT03256214 Not Applicable
43 Laryngeal Mask Supreme During Laparoscopic Gynecologic Surgery Completed NCT02125838 Not Applicable
44 Comparison Between Infant Flow SiPAP and Noninvasive NAVA in the Neonatal Intensive Care Unit Completed NCT01588080 Not Applicable
45 Assessment of Preoxygenation Strategies in the Prehospital Environment Completed NCT02694705 Not Applicable
46 Comparison Between CPAP and HFJV During One-lung Ventilation in VATS Completed NCT03296449 Not Applicable
47 Comparison of Clinical Performance of the Guardian Laryngeal Mask With LMA Proseal Completed NCT02063516 Not Applicable
48 Onabotulinumtoxina Intradetrusorial Injections and NGF Expression Completed NCT01629433
49 Pulmonary Evaluation With Ultrasound in Different Levels of PEEP Completed NCT03211936 Not Applicable
50 Total Versus Partial Arytenoidectomy in Bilateral Vocal Fold Paralysis Completed NCT01824849 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
Lung, Heart, Liver, Testes, Kidney, Brain

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 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 NEXN NM_144573.3(NEXN): c.391C> G (p.Gln131Glu) single nucleotide variant Pathogenic rs387907079 GRCh37 Chromosome 1, 78383902: 78383902
2 NEXN NM_144573.3(NEXN): c.391C> G (p.Gln131Glu) single nucleotide variant Pathogenic rs387907079 GRCh38 Chromosome 1, 77918217: 77918217
3 NEXN NM_144573.3(NEXN): c.237T> C (p.Ala79=) single nucleotide variant Likely benign rs727504549 GRCh37 Chromosome 1, 78383662: 78383662
4 NEXN NM_144573.3(NEXN): c.237T> C (p.Ala79=) single nucleotide variant Likely benign rs727504549 GRCh38 Chromosome 1, 77917977: 77917977
5 NEXN NM_144573.3(NEXN): c.586C> T (p.Arg196Cys) single nucleotide variant Uncertain significance rs369486891 GRCh37 Chromosome 1, 78392195: 78392195
6 NEXN NM_144573.3(NEXN): c.586C> T (p.Arg196Cys) single nucleotide variant Uncertain significance rs369486891 GRCh38 Chromosome 1, 77926510: 77926510
7 NEXN NM_144573.3(NEXN): c.949A> C (p.Met317Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs559464457 GRCh37 Chromosome 1, 78395085: 78395085
8 NEXN NM_144573.3(NEXN): c.949A> C (p.Met317Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs559464457 GRCh38 Chromosome 1, 77929400: 77929400
9 NEXN NM_144573.3(NEXN): c.1029G> A (p.Ala343=) single nucleotide variant Conflicting interpretations of pathogenicity rs374260457 GRCh37 Chromosome 1, 78395165: 78395165
10 NEXN NM_144573.3(NEXN): c.1029G> A (p.Ala343=) single nucleotide variant Conflicting interpretations of pathogenicity rs374260457 GRCh38 Chromosome 1, 77929480: 77929480
11 NEXN NM_144573.3(NEXN): c.1582G> C (p.Glu528Gln) single nucleotide variant Likely benign rs200071700 GRCh37 Chromosome 1, 78407816: 78407816
12 NEXN NM_144573.3(NEXN): c.1582G> C (p.Glu528Gln) single nucleotide variant Likely benign rs200071700 GRCh38 Chromosome 1, 77942131: 77942131
13 NEXN NM_144573.3(NEXN): c.1582_1584delGAA (p.Glu528del) deletion Uncertain significance rs794727077 GRCh37 Chromosome 1, 78407816: 78407818
14 NEXN NM_144573.3(NEXN): c.1582_1584delGAA (p.Glu528del) deletion Uncertain significance rs794727077 GRCh38 Chromosome 1, 77942131: 77942133
15 NEXN NM_144573.3(NEXN): c.242A> T (p.Asp81Val) single nucleotide variant Uncertain significance rs367871780 GRCh38 Chromosome 1, 77917982: 77917982
16 NEXN NM_144573.3(NEXN): c.242A> T (p.Asp81Val) single nucleotide variant Uncertain significance rs367871780 GRCh37 Chromosome 1, 78383667: 78383667
17 NEXN NM_144573.3(NEXN): c.512T> C (p.Ile171Thr) single nucleotide variant Benign/Likely benign rs372065024 GRCh37 Chromosome 1, 78392121: 78392121
18 NEXN NM_144573.3(NEXN): c.512T> C (p.Ile171Thr) single nucleotide variant Benign/Likely benign rs372065024 GRCh38 Chromosome 1, 77926436: 77926436
19 NEXN NM_144573.3(NEXN): c.856C> T (p.Arg286Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199917913 GRCh37 Chromosome 1, 78392569: 78392569
20 NEXN NM_144573.3(NEXN): c.856C> T (p.Arg286Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199917913 GRCh38 Chromosome 1, 77926884: 77926884
21 NEXN NM_144573.3(NEXN): c.1271C> T (p.Thr424Ile) single nucleotide variant Uncertain significance rs200442502 GRCh37 Chromosome 1, 78401527: 78401527
22 NEXN NM_144573.3(NEXN): c.1271C> T (p.Thr424Ile) single nucleotide variant Uncertain significance rs200442502 GRCh38 Chromosome 1, 77935842: 77935842
23 NEXN NM_144573.3(NEXN): c.1419_1421delAAG (p.Arg475del) deletion Uncertain significance rs794729091 GRCh37 Chromosome 1, 78401675: 78401677
24 NEXN NM_144573.3(NEXN): c.1419_1421delAAG (p.Arg475del) deletion Uncertain significance rs794729091 GRCh38 Chromosome 1, 77935990: 77935992
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 rs794729093 GRCh37 Chromosome 1, 78408166: 78408168
32 NEXN NM_144573.3(NEXN): c.1680_1682delGGA (p.Glu562del) deletion Conflicting interpretations of pathogenicity rs794729093 GRCh38 Chromosome 1, 77942481: 77942483
33 NEXN NM_144573.3(NEXN): c.156C> T (p.Asp52=) single nucleotide variant Benign/Likely benign rs371431782 GRCh37 Chromosome 1, 78383379: 78383379
34 NEXN NM_144573.3(NEXN): c.156C> T (p.Asp52=) single nucleotide variant Benign/Likely benign rs371431782 GRCh38 Chromosome 1, 77917694: 77917694
35 NEXN NM_144573.3(NEXN): c.1415C> G (p.Ala472Gly) single nucleotide variant Uncertain significance rs539665448 GRCh37 Chromosome 1, 78401671: 78401671
36 NEXN NM_144573.3(NEXN): c.1415C> G (p.Ala472Gly) single nucleotide variant Uncertain significance rs539665448 GRCh38 Chromosome 1, 77935986: 77935986
37 NEXN NM_144573.3(NEXN): c.222T> C (p.Ile74=) single nucleotide variant Likely benign rs767610015 GRCh37 Chromosome 1, 78383647: 78383647
38 NEXN NM_144573.3(NEXN): c.222T> C (p.Ile74=) single nucleotide variant Likely benign rs767610015 GRCh38 Chromosome 1, 77917962: 77917962
39 NEXN NM_144573.3(NEXN): c.687+4A> T single nucleotide variant Uncertain significance rs754061340 GRCh37 Chromosome 1, 78392300: 78392300
40 NEXN NM_144573.3(NEXN): c.687+4A> T single nucleotide variant Uncertain significance rs754061340 GRCh38 Chromosome 1, 77926615: 77926615
41 NEXN NM_144573.3(NEXN): c.688-10G> A single nucleotide variant Likely benign rs370574269 GRCh37 Chromosome 1, 78392391: 78392391
42 NEXN NM_144573.3(NEXN): c.688-10G> A single nucleotide variant Likely benign rs370574269 GRCh38 Chromosome 1, 77926706: 77926706
43 NEXN NM_144573.3(NEXN): c.1089A> C (p.Thr363=) single nucleotide variant Likely benign rs878855209 GRCh37 Chromosome 1, 78399002: 78399002
44 NEXN NM_144573.3(NEXN): c.1089A> C (p.Thr363=) single nucleotide variant Likely benign rs878855209 GRCh38 Chromosome 1, 77933317: 77933317
45 NEXN NM_144573.3(NEXN): c.1785C> T (p.Asp595=) single nucleotide variant Benign/Likely benign rs182998780 GRCh37 Chromosome 1, 78408271: 78408271
46 NEXN NM_144573.3(NEXN): c.1785C> T (p.Asp595=) single nucleotide variant Benign/Likely benign rs182998780 GRCh38 Chromosome 1, 77942586: 77942586
47 NEXN NM_144573.3(NEXN): c.671G> A (p.Cys224Tyr) single nucleotide variant Uncertain significance rs886046534 GRCh38 Chromosome 1, 77926595: 77926595
48 NEXN NM_144573.3(NEXN): c.671G> A (p.Cys224Tyr) single nucleotide variant Uncertain significance rs886046534 GRCh37 Chromosome 1, 78392280: 78392280
49 NEXN NM_144573.3(NEXN): c.1083T> C (p.Tyr361=) single nucleotide variant Likely benign rs1060504549 GRCh37 Chromosome 1, 78398996: 78398996
50 NEXN NM_144573.3(NEXN): c.1083T> C (p.Tyr361=) single nucleotide variant Likely benign rs1060504549 GRCh38 Chromosome 1, 77933311: 77933311

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 9.37 RPS26 RPS29
2 cornification GO:0070268 9.32 KRT86 PPL
3 viral transcription GO:0019083 9.26 RPS26 RPS29
4 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.16 RPS26 RPS29
5 cytoplasmic translation GO:0002181 8.96 RPS26 RPS29
6 translational initiation GO:0006413 8.8 ABCE1 RPS26 RPS29

Sources for Cardiomyopathy, Familial Hypertrophic, 20

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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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