CMH2
MCID: CRD065
MIFTS: 48

Cardiomyopathy, Familial Hypertrophic, 2 (CMH2)

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

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 2

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 2:

Name: Cardiomyopathy, Familial Hypertrophic, 2 58 13 74
Cmh2 58 12 76
Familial Hypertrophic Cardiomyopathy 2 30 6
Hypertrophic Cardiomyopathy 2 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 2 41
Cardiomyopathy, Familial Hypertrophic 2 76
Cardiomyopathy Familial Hypertrophic 2 12
Cardiomyopathy, Hypertrophic, 2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant (1q3)
other forms at loci on chromosomes 11, 14, 15 and at least one other locus


HPO:

33
cardiomyopathy, familial hypertrophic, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110308
OMIM 58 115195
MeSH 45 D024741
MedGen 43 C1861864
SNOMED-CT via HPO 70 233873004 263681008 45227007
UMLS 74 C1861864

Summaries for Cardiomyopathy, Familial Hypertrophic, 2

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, familial hypertrophic 2: 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, 2, also known as cmh2, is related to gnathomiasis and myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 2 is TNNT2 (Troponin T2, Cardiac Type), and among its related pathways/superpathways are Pathways in cancer and NRF2 pathway. The drugs Rocuronium and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and brain, and related phenotypes are hypertrophic cardiomyopathy and Decreased homologous recombination repair frequency

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2).

Description from OMIM: 115195

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 2

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

Diseases related to Cardiomyopathy, Familial Hypertrophic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gnathomiasis 9.7 ANXA5 MT-CO1
2 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 9.4 ANXA5 CYCS MAPK8
3 colon adenocarcinoma 9.3 ANXA5 MAPK8 NQO1
4 lung cancer susceptibility 3 9.2 CYCS FOXM1 MAPK8 NQO1
5 large intestine cancer 9.1 ANXA5 CYCS MAPK8 SLC2A1

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 2:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 2

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 2

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 2:

33
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 33 HP:0001639

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
hypertrophic cardiomyopathy

Clinical features from OMIM:

115195

GenomeRNAi Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 2 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 9.65 SEM1
2 Decreased homologous recombination repair frequency GR00151-A-2 9.65 SEM1
3 Decreased homologous recombination repair frequency GR00236-A-1 9.65 CRYZ MAPK8 MAPK8IP1 SEM1 SPAG9
4 Decreased homologous recombination repair frequency GR00236-A-2 9.65 MAPK8IP1 SEM1
5 Decreased homologous recombination repair frequency GR00236-A-3 9.65 SEM1
6 Reduced mammosphere formation GR00396-S 9.1 FOXM1 MAPK8 MAPK8IP1 NKRF NQO1 SEM1

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 2

Drugs for Cardiomyopathy, Familial Hypertrophic, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 171)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rocuronium Approved Phase 4,Not Applicable,Early Phase 1 119302-91-9, 143558-00-3 441290
2
Benzocaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 1994-09-7, 94-09-7 2337
3
tannic acid Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 1401-55-4
4
Cisatracurium Approved Phase 4,Phase 3,Early Phase 1,Not Applicable 96946-41-7
5
Dexmedetomidine Approved, Vet_approved Phase 4,Early Phase 1 113775-47-6 5311068 68602
6
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
7
Budesonide Approved Phase 4 51333-22-3 5281004 63006
8 Poractant alfa Approved Phase 4 129069-19-8
9
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
10
Acetylcholine Approved, Investigational Phase 4,Phase 2 51-84-3 187
11
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
12
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
13 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
14 Central Nervous System Depressants Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
15 Respiratory System Agents Phase 4,Phase 3,Not Applicable
16 Anti-Inflammatory Agents Phase 4,Not Applicable
17 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Not Applicable
18 Antihypertensive Agents Phase 4,Not Applicable
19 Calamus Phase 4,Phase 2,Not Applicable
20 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
21 Neuromuscular Agents Phase 4,Phase 2,Not Applicable
22 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
23 Cholinergic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
24 Cholinergic Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
25 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
26
Glycopyrrolate Phase 4 596-51-0 3494
27 Neuromuscular Blocking Agents Phase 4,Not Applicable
28 Adjuvants, Anesthesia Phase 4,Phase 1,Phase 2
29 Cholinesterase Inhibitors Phase 4
30 Muscarinic Antagonists Phase 4,Phase 3,Phase 1,Phase 2
31 Neuromuscular Nondepolarizing Agents Phase 4,Not Applicable
32 glucocorticoids Phase 4
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
34 Bronchodilator Agents Phase 4,Phase 3,Not Applicable
35 Hormone Antagonists Phase 4
36 Anti-Asthmatic Agents Phase 4,Phase 3,Not Applicable
37 Hormones Phase 4
38 Pulmonary Surfactants Phase 4,Phase 3
39 Acetylcholine Release Inhibitors Phase 4,Phase 2
40 abobotulinumtoxinA Phase 4,Phase 2
41 Botulinum Toxins Phase 4,Phase 2
42 Botulinum Toxins, Type A Phase 4,Phase 2
43 Anesthetics, Local Phase 4,Not Applicable
44 Adrenergic alpha-2 Receptor Agonists Phase 4,Early Phase 1
45 Adrenergic Agonists Phase 4,Phase 3,Not Applicable,Early Phase 1
46 Adrenergic alpha-Agonists Phase 4,Early Phase 1
47 Adrenergic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
48 Analgesics Phase 4,Not Applicable,Early Phase 1
49 Hypnotics and Sedatives Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
50 Analgesics, Non-Narcotic Phase 4,Not Applicable,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 606)
# Name Status NCT ID Phase Drugs
1 Exacerbation Prevention GOLD IV COPD With Non Invasive Mechanical Ventilation Unknown status NCT01481727 Phase 4
2 Bronchial Blocker for One-lung Ventilation in Cardiac Surgery Unknown status NCT02729610 Phase 4
3 Effect of Laryngeal Mask Cuff Pressure in Geriatric Patients Completed NCT02189954 Phase 4
4 Effect of Perioperative Lung Protective Strategies on the Occurrence of Postoperative Pulmonary Complications in Patients Undergoing Lumbar Spinal Surgery in the Prone Position Completed NCT02373475 Phase 4
5 CURES: The Effect of Deep Curarisation and Reversal With Sugammadex on Surgical Conditions and Perioperative Morbidity Completed NCT01748643 Phase 4 deep neuromuscular blockade with rocuronium, reversal with sugammadex;normal neuromuscular blockade reversal with rocuronium, reversal with neostigmine
6 Use of a Pressurized Face Mask for Preventing Respiratory Complications After Chest Surgery Completed NCT02771327 Phase 4
7 Air-Q Intubating Laryngeal Airway Versus the Laryngeal Mask Airway (LMA)-Proseal Completed NCT01328405 Phase 4
8 Intratracheal Budesonide/Surfactant Prevents BPD Not yet recruiting NCT03275415 Phase 4 budesonide;Saline
9 Impact of Continuous Positive Airway Pressure on the Treatment of Acute Asthma Exacerbation Completed NCT01403467 Phase 4
10 Effect of Nasal CPAP on Lipid Profile in Patients With Dyslipidaemia and Sleep Apnea Recruiting NCT02557412 Phase 4
11 Comparison of Effectiveness of Nasal CPAP and Nasal IMV in Early Rescue Surfactant Treatment in Preterm Infants Completed NCT01741129 Phase 4
12 Effect of Intrathoracic Pressure Regulation on Traumatic Brain Injury Terminated NCT01824589 Phase 4
13 Systematic Early Use of Neuromuscular Blocking Agents in ARDS Patients Completed NCT00299650 Phase 4 cisatracurium;Placebo;Cisatracurium besilate
14 Intraoperative Protective Ventilation in Abdominal Surgery (IMPROVE Study) Completed NCT01282996 Phase 4
15 Prevention of Bladder Dysfunction in Acute Spinal Cord Injury Active, not recruiting NCT01698138 Phase 4 Onabotulinumtoxin A;Placebo
16 Spontaneous Breathing Trials Using Pressure-Support or T-Tube in Chronic Obstructive Pulmonary Disease Patients Weaning Mechanical Ventilation Completed NCT01464567 Phase 4
17 Effect of Noninvasive Ventilation on Physical Activity and Inflammation in COPD Patients Recruiting NCT01037387 Phase 4 Control
18 Antihypertensive Effect of Continuous Positive Airway Pressure in Resistant Hypertensive Patients With Sleep Apnea Completed NCT00929175 Phase 4
19 Neuromuscular Electroestimulation and Respiratory Muscle Training in Subacute Stroke Completed NCT02473432 Phase 4
20 Non Invasive Mechanical Ventilation Versus Respiratory Rehabilitation in Hypercapnic COPD Completed NCT01377818 Phase 4
21 Effects of Thoracic Epidural Administered Ropivacaine Versus Bupivacaine on Bladder Function Completed NCT02414373 Phase 4 Ropivacaine 2mg/ml;Bupivacaine
22 Effects of Dexmedetomidine on Oxygenation and Lung Mechanics in Morbidly Obese Patients Undergoing Bariatric Operations Completed NCT02843698 Phase 4 Dexmedetomidine;Normal saline
23 Study of Postoperative Chest Tube Management Recruiting NCT02282462 Phase 4
24 Bilateral Transversus Abdominis Plane Block Versus Atracurium During Laparoscopic Gynecology Procedures. Completed NCT03701256 Phase 4 Neuromuscular blockade agent: Atracurium 01mg/kg per bolus
25 Stacking Exercises Aid the Decline in FVC and Sick Time Completed NCT01999075 Phase 4
26 Partial Neuromuscular Blockade for Lung Protective Mechanical Ventilation Recruiting NCT03646266 Phase 4 Rocuronium Bromide
27 High Frequency Jet Ventilation for Percutaneous Interventional Radiology Unknown status NCT02813005 Phase 3
28 Obese Patient During RARP: the Role of a Preemptive Ventilator Strategy to Contrast Pneumoperitoneum and Trendelenburg Position Unknown status NCT01868347 Phase 3
29 Decreasing Upper and Shoulder Pain After Laparoscopic Surgery Unknown status NCT01433874 Phase 3
30 Pulmonary Recruitment Maneuver for Postlaparoscopic Shoulder Pain Completed NCT02596425 Phase 3
31 ELASTANCE: Prospective Physiological Study of Lung Elastance in Recruitment and Derecruitment in Early Onset Mechanically Ventilated ARDS Patients Completed NCT01899560 Phase 3
32 Protective Ventilation With Carbon Dioxide (CO2) -Removal Technique in Patients With Adult Respiratory Distress Syndrome (ARDS) Completed NCT00465309 Phase 3
33 The Effects of Inhaled Aclidinium Bromide/Formoterol Fumarate on Inspiratory Pleural Pressures in Smokers Completed NCT03104634 Phase 3 Aclidinium bromide/formoterol fumarate dihydrate;Placebo
34 Ultrasonographic Assessment of Lung Recruitment Maneuvers in Children Undergoing Lengthy Microsurgery Operations Recruiting NCT03557905 Phase 2, Phase 3
35 Effects of the Breathing Muscular Training of Institutionalized Elderly Completed NCT01001156 Phase 2, Phase 3
36 High-Frequency Oscillatory Ventilation Associated With Inhaled Nitric Oxide in Children Completed NCT00924846 Phase 3
37 A Randomized Comparison of Pediatric I-gel, Air-Q With Classic Laryngeal Mask Airway Completed NCT02757820 Phase 2, Phase 3
38 Investigation of a Novel Positive Pressure Therapy to Rescue Patients Failing to Tolerate CPAP During an Initial Encounter Completed NCT00635206 Phase 3
39 NIV Strategies for RDS in Preterm Infants. NIV (Non Invasive Ventilation), RDS (Respiratory Distress Syndrome) Completed NCT02259400 Phase 2, Phase 3
40 Pressure-controlled vs Volume Controlled Ventilation on RV Function During OLV Completed NCT01763879 Phase 3
41 Very Early Surfactant and NCPAP for Premature Infants With RDS Completed NCT00563641 Phase 3
42 A Study to Assess the Long Term Effect, Safety and Metabolism of a Solifenacin Liquid Suspension in Participants 5 to 18 Years of Age With Neurogenic Detrusor Overactivity Completed NCT01565694 Phase 3 Solifenacin succinate
43 Clinical Effect of the Association of Noninvasive Ventilation and High Flow Nasal Oxygen Therapy in Resuscitation of Patients With Acute Lung Injury (FLORALI Study) Completed NCT01320384 Phase 2, Phase 3
44 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
45 Inhaled Dornase Alpha to Reduce Respiratory Failure After Severe Trauma Not yet recruiting NCT03368092 Phase 3 Dornase Alfa Inhalant Solution [Pulmozyme];Placebos
46 Physical Exercise Program in Chronic Chagas Heart Disease Completed NCT02517632 Phase 3
47 Level of Continuous Positive Airway Pressure (CPAP) in Preterm Infants After Extubation (L-CPAP Study) Terminated NCT00636324 Phase 2
48 Alveolar Recruitment Maneuver During Cesarean Section Improves Lung Compliance Completed NCT01826968 Phase 2
49 Recruitment on Extravascular Lung Water in Acute Respiratory Distress Syndrome (ARDS) Completed NCT01552070 Phase 2
50 Effect of Dalfampridine (4-AP) on Genioglossus Muscle Activity in Healthy Adults Completed NCT02656160 Phase 2 Placebo;Dalfampridine

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 2

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 2

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 2:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 2 30 TNNT2

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 2

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 2:

42
Lung, Heart, Brain, Spinal Cord, Liver, Testes, Bone

Publications for Cardiomyopathy, Familial Hypertrophic, 2

Articles related to Cardiomyopathy, Familial Hypertrophic, 2:

(show all 12)
# Title Authors Year
1
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
4
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
5
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. ( 18651846 )
2008
6
Functional consequences of a carboxyl terminal missense mutation Arg278Cys in human cardiac troponin T. ( 10405326 )
1999
7
Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis. ( 9714088 )
1998
8
Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action. ( 8958207 )
1996
9
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. ( 7898523 )
1995
10
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. ( 8205619 )
1994
11
A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. ( 7981753 )
1993
12
Effect of chymotryptic troponin T subfragments on the calcium ion-sensitivity of ATPase and superprecipitation of actomyosin. ( 2946667 )
1986

Variations for Cardiomyopathy, Familial Hypertrophic, 2

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 2:

76 (show all 18)
# Symbol AA change Variation ID SNP ID
1 TNNT2 p.Ile89Asn VAR_007605 rs121964855
2 TNNT2 p.Arg102Gln VAR_007606 rs121964856
3 TNNT2 p.Phe120Ile VAR_007607 rs121964858
4 TNNT2 p.Glu173Lys VAR_007609
5 TNNT2 p.Glu254Asp VAR_007610 rs45466197
6 TNNT2 p.Arg288Cys VAR_007612 rs121964857
7 TNNT2 p.Arg288Pro VAR_007613 rs397516484
8 TNNT2 p.Arg104Leu VAR_009194 rs397516457
9 TNNT2 p.Arg102Leu VAR_016195 rs121964856
10 TNNT2 p.Arg102Trp VAR_016196 rs397516456
11 TNNT2 p.Ala114Val VAR_016197 rs727504245
12 TNNT2 p.Ser189Phe VAR_016199 rs727504246
13 TNNT2 p.Phe80Leu VAR_019877 rs886039053
14 TNNT2 p.Phe120Val VAR_019878 rs121964858
15 TNNT2 p.Asn281Ile VAR_019879 rs863225119
16 TNNT2 p.Arg296Cys VAR_019880 rs367785431
17 TNNT2 p.Arg140Cys VAR_042747 rs397516463
18 TNNT2 p.Ala38Val VAR_067259 rs200754249

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 2:

6 (show top 50) (show all 261)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNT2 NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn) single nucleotide variant Pathogenic rs121964855 GRCh37 Chromosome 1, 201334766: 201334766
2 TNNT2 NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn) single nucleotide variant Pathogenic rs121964855 GRCh38 Chromosome 1, 201365638: 201365638
3 TNNT2 NM_001001430.2(TNNT2): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121964856 GRCh37 Chromosome 1, 201334425: 201334425
4 TNNT2 NM_001001430.2(TNNT2): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121964856 GRCh38 Chromosome 1, 201365297: 201365297
5 TNNT2 NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 GRCh37 Chromosome 1, 201328373: 201328373
6 TNNT2 NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 GRCh38 Chromosome 1, 201359245: 201359245
7 TNNT2 NM_001001430.2(TNNT2): c.328T> A (p.Phe110Ile) single nucleotide variant Pathogenic rs121964858 GRCh37 Chromosome 1, 201334372: 201334372
8 TNNT2 NM_001001430.2(TNNT2): c.328T> A (p.Phe110Ile) single nucleotide variant Pathogenic rs121964858 GRCh38 Chromosome 1, 201365244: 201365244
9 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh37 Chromosome 1, 201333464: 201333464
10 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh38 Chromosome 1, 201364336: 201364336
11 TNNT2 NM_001001430.2(TNNT2): c.391C> T (p.Arg131Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315380 GRCh37 Chromosome 1, 201333494: 201333494
12 TNNT2 NM_001001430.2(TNNT2): c.391C> T (p.Arg131Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315380 GRCh38 Chromosome 1, 201364366: 201364366
13 TNNT2 NM_000364.3(TNNT2): c.294+7G> A single nucleotide variant Benign/Likely benign rs45490292 GRCh37 Chromosome 1, 201334731: 201334731
14 TNNT2 NM_000364.3(TNNT2): c.294+7G> A single nucleotide variant Benign/Likely benign rs45490292 GRCh38 Chromosome 1, 201365603: 201365603
15 TNNT2 NM_001001430.2(TNNT2): c.68-1626A> G single nucleotide variant Benign rs115805892 GRCh37 Chromosome 1, 201338981: 201338981
16 TNNT2 NM_001001430.2(TNNT2): c.68-1626A> G single nucleotide variant Benign rs115805892 GRCh38 Chromosome 1, 201369853: 201369853
17 TNNT2 NM_001001430.2(TNNT2): c.218A> G (p.Asn73Ser) single nucleotide variant Uncertain significance rs397516450 GRCh37 Chromosome 1, 201334784: 201334784
18 TNNT2 NM_001001430.2(TNNT2): c.218A> G (p.Asn73Ser) single nucleotide variant Uncertain significance rs397516450 GRCh38 Chromosome 1, 201365656: 201365656
19 TNNT2 NM_000364.3(TNNT2): c.260C> T (p.Pro87Leu) single nucleotide variant Uncertain significance rs144900708 GRCh37 Chromosome 1, 201334772: 201334772
20 TNNT2 NM_000364.3(TNNT2): c.260C> T (p.Pro87Leu) single nucleotide variant Uncertain significance rs144900708 GRCh38 Chromosome 1, 201365644: 201365644
21 TNNT2 NM_001001430.2(TNNT2): c.238C> T (p.Pro80Ser) single nucleotide variant Uncertain significance rs397516451 GRCh37 Chromosome 1, 201334764: 201334764
22 TNNT2 NM_001001430.2(TNNT2): c.238C> T (p.Pro80Ser) single nucleotide variant Uncertain significance rs397516451 GRCh38 Chromosome 1, 201365636: 201365636
23 TNNT2 NM_001001430.2(TNNT2): c.240C> G (p.Pro80=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 GRCh37 Chromosome 1, 201334762: 201334762
24 TNNT2 NM_001001430.2(TNNT2): c.240C> G (p.Pro80=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 GRCh38 Chromosome 1, 201365634: 201365634
25 TNNT2 NM_001001430.2(TNNT2): c.240C> T (p.Pro80=) single nucleotide variant Likely benign rs140245123 GRCh37 Chromosome 1, 201334762: 201334762
26 TNNT2 NM_001001430.2(TNNT2): c.240C> T (p.Pro80=) single nucleotide variant Likely benign rs140245123 GRCh38 Chromosome 1, 201365634: 201365634
27 TNNT2 NM_001001430.2(TNNT2): c.257A> C (p.Asp86Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516455 GRCh37 Chromosome 1, 201334745: 201334745
28 TNNT2 NM_001001430.2(TNNT2): c.257A> C (p.Asp86Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516455 GRCh38 Chromosome 1, 201365617: 201365617
29 TNNT2 NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs397516456 GRCh37 Chromosome 1, 201334426: 201334426
30 TNNT2 NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs397516456 GRCh38 Chromosome 1, 201365298: 201365298
31 TNNT2 NM_001001430.2(TNNT2): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic/Likely pathogenic rs397516457 GRCh37 Chromosome 1, 201334419: 201334419
32 TNNT2 NM_001001430.2(TNNT2): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic/Likely pathogenic rs397516457 GRCh38 Chromosome 1, 201365291: 201365291
33 TNNT2 TNNT2, IVS15, G-A, +1 single nucleotide variant Pathogenic
34 TNNT2 NM_001001430.2(TNNT2): c.281G> T (p.Arg94Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397516457 GRCh37 Chromosome 1, 201334419: 201334419
35 TNNT2 NM_001001430.2(TNNT2): c.281G> T (p.Arg94Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397516457 GRCh38 Chromosome 1, 201365291: 201365291
36 TNNT2 NM_001001430.2(TNNT2): c.382-6_382-4delCCT deletion Conflicting interpretations of pathogenicity rs397516462 GRCh37 Chromosome 1, 201333507: 201333509
37 TNNT2 NM_001001430.2(TNNT2): c.382-6_382-4delCCT deletion Conflicting interpretations of pathogenicity rs397516462 GRCh38 Chromosome 1, 201364379: 201364381
38 TNNT2 NM_001001430.2(TNNT2): c.388C> T (p.Arg130Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516463 GRCh37 Chromosome 1, 201333497: 201333497
39 TNNT2 NM_001001430.2(TNNT2): c.388C> T (p.Arg130Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516463 GRCh38 Chromosome 1, 201364369: 201364369
40 TNNT2 NM_001001430.2(TNNT2): c.392G> C (p.Arg131Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516464 GRCh37 Chromosome 1, 201333493: 201333493
41 TNNT2 NM_001001430.2(TNNT2): c.392G> C (p.Arg131Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516464 GRCh38 Chromosome 1, 201364365: 201364365
42 TNNT2 NM_001001430.2(TNNT2): c.444G> C (p.Arg148=) single nucleotide variant Benign/Likely benign rs35914325 GRCh37 Chromosome 1, 201333441: 201333441
43 TNNT2 NM_001001430.2(TNNT2): c.444G> C (p.Arg148=) single nucleotide variant Benign/Likely benign rs35914325 GRCh38 Chromosome 1, 201364313: 201364313
44 TNNT2 NM_001001430.2(TNNT2): c.416G> A (p.Arg139His) single nucleotide variant Conflicting interpretations of pathogenicity rs397516466 GRCh37 Chromosome 1, 201333469: 201333469
45 TNNT2 NM_001001430.2(TNNT2): c.416G> A (p.Arg139His) single nucleotide variant Conflicting interpretations of pathogenicity rs397516466 GRCh38 Chromosome 1, 201364341: 201364341
46 TNNT2 NM_001001430.2(TNNT2): c.476G> A (p.Arg159Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs45501500 GRCh37 Chromosome 1, 201332518: 201332518
47 TNNT2 NM_001001430.2(TNNT2): c.476G> A (p.Arg159Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs45501500 GRCh38 Chromosome 1, 201363390: 201363390
48 TNNT2 NM_001001430.2(TNNT2): c.487_489delGAG (p.Glu163del) deletion Pathogenic rs397516470 GRCh37 Chromosome 1, 201332505: 201332507
49 TNNT2 NM_001001430.2(TNNT2): c.487_489delGAG (p.Glu163del) deletion Pathogenic rs397516470 GRCh38 Chromosome 1, 201363377: 201363379
50 TNNT2 NM_001001430.2(TNNT2): c.518G> A (p.Arg173Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516471 GRCh37 Chromosome 1, 201332476: 201332476

Expression for Cardiomyopathy, Familial Hypertrophic, 2

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 2.

Pathways for Cardiomyopathy, Familial Hypertrophic, 2

GO Terms for Cardiomyopathy, Familial Hypertrophic, 2

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.32 ANXA5 CRYZ CYCS MAPK8 MAPK8IP1 NQO1

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.72 CRYZ CYCS MT-CO1 NQO1 SOD3
2 response to oxidative stress GO:0006979 9.58 MT-CO1 NQO1 SOD3
3 response to electrical stimulus GO:0051602 9.46 MT-CO1 NQO1
4 superoxide metabolic process GO:0006801 9.43 NQO1 SOD3
5 response to copper ion GO:0046688 9.37 MT-CO1 SOD3
6 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.26 CYCS MT-CO1
7 removal of superoxide radicals GO:0019430 9.16 NQO1 SOD3
8 electron transport chain GO:0022900 9.13 CYCS MT-CO1 NQO1
9 JUN phosphorylation GO:0007258 8.62 MAPK8 MAPK8IP1

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.8 ANXA5 CYCS F2R FOXM1 MAPK8 MAPK8IP1
2 JUN kinase binding GO:0008432 9.26 MAPK8IP1 SPAG9
3 MAP-kinase scaffold activity GO:0005078 9.16 MAPK8IP1 SPAG9
4 superoxide dismutase activity GO:0004784 8.62 NQO1 SOD3

Sources for Cardiomyopathy, Familial Hypertrophic, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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