CMH2
MCID: CRD065
MIFTS: 32

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 57 13 73
Cmh2 57 12 75
Familial Hypertrophic Cardiomyopathy 2 29 6
Hypertrophic Cardiomyopathy 2 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 2 40
Cardiomyopathy, Familial Hypertrophic 2 75
Cardiomyopathy Familial Hypertrophic 2 12
Cardiomyopathy, Hypertrophic, 2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (1q3)
other forms at loci on chromosomes 11, 14, 15 and at least one other locus


HPO:

32
cardiomyopathy, familial hypertrophic, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 115195
Disease Ontology 12 DOID:0110308
MedGen 42 C1861864
MeSH 44 D024741
SNOMED-CT via HPO 69 263681008 233873004 45227007
UMLS 73 C1861864

Summaries for Cardiomyopathy, Familial Hypertrophic, 2

UniProtKB/Swiss-Prot : 75 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 cervix carcinoma. 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 Epstein-Barr virus infection. The drugs Rocuronium and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include heart and cervix, 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, 19
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 9.9 MT-CO1 ANXA5
2 cervix carcinoma 9.9 MAPK8IP1 FOXM1
3 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 9.6 MAPK8 CYCS ANXA5
4 large intestine cancer 9.4 SLC2A1 MAPK8 CYCS ANXA5

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 2

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
hypertrophic cardiomyopathy


Clinical features from OMIM:

115195

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 2:

32
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 9.32 SEM1
2 Decreased homologous recombination repair frequency GR00151-A-2 9.32 SEM1
3 Decreased homologous recombination repair frequency GR00236-A-1 9.32 CRYZ MAPK8 MAPK8IP1 SEM1 SPAG9
4 Decreased homologous recombination repair frequency GR00236-A-2 9.32 MAPK8IP1 SEM1
5 Decreased homologous recombination repair frequency GR00236-A-3 9.32 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 165)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rocuronium Approved Phase 4,Not Applicable 119302-91-9, 143558-00-3 441290
2 tannic acid Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
3
Benzocaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 94-09-7, 1994-09-7 2337
4
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
5 Poractant alfa Approved Phase 4 129069-19-8
6
Budesonide Approved Phase 4 51333-22-3 63006 5281004
7
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
8
Cisatracurium Approved Phase 4,Phase 3 96946-41-7
9
Acetylcholine Approved Phase 4,Phase 2 51-84-3 187
10
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
11
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
12
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
13 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
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 Pharmaceutical Solutions Phase 4,Phase 3,Not Applicable
17 Antihypertensive Agents Phase 4,Not Applicable
18 Calamus Phase 4,Phase 2,Not Applicable
19 Adjuvants, Anesthesia Phase 4,Phase 1,Phase 2
20 Neuromuscular Agents Phase 4,Phase 2,Not Applicable
21 Muscarinic Antagonists Phase 4,Phase 3,Phase 1,Phase 2
22 Cholinergic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
23 Neuromuscular Blocking Agents Phase 4,Not Applicable
24 Cholinesterase Inhibitors Phase 4
25 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
26 Neuromuscular Nondepolarizing Agents Phase 4,Not Applicable
27
Glycopyrrolate Phase 4 596-51-0 3494
28 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
29 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
30 Cholinergic Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
31 Hormone Antagonists Phase 4
32 Pulmonary Surfactants Phase 4,Phase 3
33 Anti-Asthmatic Agents Phase 4,Phase 3,Not Applicable
34 Anti-Inflammatory Agents Phase 4,Not Applicable
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
36 Bronchodilator Agents Phase 4,Phase 3,Not Applicable
37 Hormones Phase 4
38 glucocorticoids Phase 4
39 Acetylcholine Release Inhibitors Phase 4,Phase 2
40 Botulinum Toxins Phase 4,Phase 2
41 onabotulinumtoxinA Phase 4,Phase 2
42 Botulinum Toxins, Type A Phase 4,Phase 2
43 abobotulinumtoxinA Phase 4,Phase 2
44 Anesthetics, Local Phase 4,Not Applicable
45 Analgesics Phase 4,Not Applicable
46 Hypnotics and Sedatives Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
47 Analgesics, Non-Narcotic Phase 4,Not Applicable
48 Adrenergic alpha-2 Receptor Agonists Phase 4
49 Adrenergic alpha-Agonists Phase 4
50 Adrenergic Agonists Phase 4,Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 568)
# 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 Recruiting 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 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
43 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
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 Atomoxetine and Oxybutynin in Obstructive Sleep Apnea Completed NCT02908529 Phase 1, Phase 2 Combination product of Atomoxetine and Oxybutynin;Placebo, 2 tablets
50 Recruitment on Extravascular Lung Water in Acute Respiratory Distress Syndrome (ARDS) Completed NCT01552070 Phase 2

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 29 TNNT2

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 2

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

41
Heart, Cervix

Publications for Cardiomyopathy, Familial Hypertrophic, 2

Variations for Cardiomyopathy, Familial Hypertrophic, 2

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

75 (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 TNNT2, IVS15, G-A, +1 single nucleotide variant Pathogenic
6 TNNT2 NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 GRCh37 Chromosome 1, 201328373: 201328373
7 TNNT2 NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 GRCh38 Chromosome 1, 201359245: 201359245
8 TNNT2 NM_001001430.2(TNNT2): c.328T> A (p.Phe110Ile) single nucleotide variant Pathogenic rs121964858 GRCh37 Chromosome 1, 201334372: 201334372
9 TNNT2 NM_001001430.2(TNNT2): c.328T> A (p.Phe110Ile) single nucleotide variant Pathogenic rs121964858 GRCh38 Chromosome 1, 201365244: 201365244
10 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh37 Chromosome 1, 201333464: 201333464
11 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh38 Chromosome 1, 201364336: 201364336
12 TNNT2 NM_001001430.2(TNNT2): c.391C> T (p.Arg131Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315380 GRCh37 Chromosome 1, 201333494: 201333494
13 TNNT2 NM_001001430.2(TNNT2): c.391C> T (p.Arg131Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315380 GRCh38 Chromosome 1, 201364366: 201364366
14 TNNT2 NM_000364.3(TNNT2): c.294+7G> A single nucleotide variant Benign/Likely benign rs45490292 GRCh37 Chromosome 1, 201334731: 201334731
15 TNNT2 NM_000364.3(TNNT2): c.294+7G> A single nucleotide variant Benign/Likely benign rs45490292 GRCh38 Chromosome 1, 201365603: 201365603
16 TNNT2 NM_001001430.2(TNNT2): c.68-1626A> G single nucleotide variant Benign rs115805892 GRCh37 Chromosome 1, 201338981: 201338981
17 TNNT2 NM_001001430.2(TNNT2): c.68-1626A> G single nucleotide variant Benign rs115805892 GRCh38 Chromosome 1, 201369853: 201369853
18 TNNT2 NM_001001430.2(TNNT2): c.218A> G (p.Asn73Ser) single nucleotide variant Uncertain significance rs397516450 GRCh37 Chromosome 1, 201334784: 201334784
19 TNNT2 NM_001001430.2(TNNT2): c.218A> G (p.Asn73Ser) single nucleotide variant Uncertain significance rs397516450 GRCh38 Chromosome 1, 201365656: 201365656
20 TNNT2 NM_000364.3(TNNT2): c.260C> T (p.Pro87Leu) single nucleotide variant Uncertain significance rs144900708 GRCh37 Chromosome 1, 201334772: 201334772
21 TNNT2 NM_000364.3(TNNT2): c.260C> T (p.Pro87Leu) single nucleotide variant Uncertain significance rs144900708 GRCh38 Chromosome 1, 201365644: 201365644
22 TNNT2 NM_001001430.2(TNNT2): c.238C> T (p.Pro80Ser) single nucleotide variant Uncertain significance rs397516451 GRCh37 Chromosome 1, 201334764: 201334764
23 TNNT2 NM_001001430.2(TNNT2): c.238C> T (p.Pro80Ser) single nucleotide variant Uncertain significance rs397516451 GRCh38 Chromosome 1, 201365636: 201365636
24 TNNT2 NM_001001430.2(TNNT2): c.240C> G (p.Pro80=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 GRCh37 Chromosome 1, 201334762: 201334762
25 TNNT2 NM_001001430.2(TNNT2): c.240C> G (p.Pro80=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 GRCh38 Chromosome 1, 201365634: 201365634
26 TNNT2 NM_001001430.2(TNNT2): c.240C> T (p.Pro80=) single nucleotide variant Likely benign rs140245123 GRCh37 Chromosome 1, 201334762: 201334762
27 TNNT2 NM_001001430.2(TNNT2): c.240C> T (p.Pro80=) single nucleotide variant Likely benign rs140245123 GRCh38 Chromosome 1, 201365634: 201365634
28 TNNT2 NM_001001430.2(TNNT2): c.257A> C (p.Asp86Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516455 GRCh37 Chromosome 1, 201334745: 201334745
29 TNNT2 NM_001001430.2(TNNT2): c.257A> C (p.Asp86Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516455 GRCh38 Chromosome 1, 201365617: 201365617
30 TNNT2 NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs397516456 GRCh37 Chromosome 1, 201334426: 201334426
31 TNNT2 NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs397516456 GRCh38 Chromosome 1, 201365298: 201365298
32 TNNT2 NM_001001430.2(TNNT2): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic/Likely pathogenic rs397516457 GRCh37 Chromosome 1, 201334419: 201334419
33 TNNT2 NM_001001430.2(TNNT2): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic/Likely pathogenic rs397516457 GRCh38 Chromosome 1, 201365291: 201365291
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

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

# Super pathways Score Top Affiliating Genes
1 12.18 CYCS F2R MAPK8 SLC2A1
2 11.74 CYCS MAPK8 SEM1
3 10.42 MAPK8 MAPK8IP1
4 10.07 CYCS MAPK8

GO Terms for Cardiomyopathy, Familial Hypertrophic, 2

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.96 CYCS MT-CO1
2 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 9.97 ANXA5 CD55 CYCS F2R FOXM1 MAPK8
2 JUN kinase binding GO:0008432 8.96 MAPK8IP1 SPAG9
3 MAP-kinase scaffold activity GO:0005078 8.62 MAPK8IP1 SPAG9

Sources for Cardiomyopathy, Familial Hypertrophic, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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