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 57 13 72
Cmh2 57 12 74
Familial Hypertrophic Cardiomyopathy 2 29 6
Cardiomyopathy, Hypertrophic, 2 57 29
Hypertrophic Cardiomyopathy 2 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 2 40
Cardiomyopathy, Familial Hypertrophic 2 74
Cardiomyopathy Familial Hypertrophic 2 12

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:

Disease Ontology 12 DOID:0110308
MeSH 44 D024741
MedGen 42 C1861864
UMLS 72 C1861864

Summaries for Cardiomyopathy, Familial Hypertrophic, 2

UniProtKB/Swiss-Prot : 74 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 atrial standstill 1 and cardiomyopathy, familial hypertrophic, 1. 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 Cardiotonic Agents and Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and prostate, 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).

More information from OMIM: 115195 PS192600

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
Rare Familial Disorder with Hypertrophic Cardiomyopathy

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

# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 10.0
2 cardiomyopathy, familial hypertrophic, 1 9.9
3 hypertrophic cardiomyopathy 9.9
4 gnathomiasis 9.6 MT-CO1 ANXA5
5 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 9.0 MAPK8 CYCS ANXA5
6 colon adenocarcinoma 8.9 NQO1 MAPK8 ANXA5
7 lung cancer susceptibility 3 8.7 NQO1 MAPK8 FOXM1 CYCS
8 large intestine cancer 8.5 SLC2A1 MAPK8 CYCS ANXA5

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:

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

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
hypertrophic cardiomyopathy

Clinical features from OMIM:

115195

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 9.13 SEM1
2 Decreased homologous recombination repair frequency GR00151-A-2 9.13 SEM1
3 Decreased homologous recombination repair frequency GR00236-A-3 9.13 SEM1
4 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 all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cardiotonic Agents
2 Respiratory System Agents
3 adrenomedullin
4 Protective Agents
5 Anti-Asthmatic Agents
6 Antihypertensive Agents
7 Vasodilator Agents
8 Peripheral Nervous System Agents
9 Autonomic Agents
10 Bronchodilator Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation at Rest and Exercise of Clinical, Ultrasonic and Neurohormonal Parameters in Hypertrophic Cardiomyopathies Completed NCT01729702
2 Effects of Sustained Inflation or Positive Pressure Ventilation on Release of Adrenomedullin in Preterm Infants With Respiratory Failure at Birth Completed NCT03437499

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
2 Cardiomyopathy, Hypertrophic, 2 29

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 2

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

41
Heart, Lung, Prostate, Testes, Spinal Cord, Liver, Kidney

Publications for Cardiomyopathy, Familial Hypertrophic, 2

Articles related to Cardiomyopathy, Familial Hypertrophic, 2:

(show top 50) (show all 149)
# Title Authors PMID Year
1
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 8 71
18651846 2008
2
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. 8 71
9714088 1998
3
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 8 71
7898523 1995
4
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8 71
8205619 1994
5
A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. 8 71
7981753 1993
6
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 71
25173338 2014
7
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 71
22241583 2012
8
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 71
21810866 2011
9
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 71
21267010 2011
10
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 71
19808356 2009
11
Hypertrophic Cardiomyopathy Overview 71
20301725 2008
12
Mutations in sarcomere protein genes in left ventricular noncompaction. 71
18506004 2008
13
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 71
18258667 2008
14
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 71
17611253 2007
15
Gene mutations in apical hypertrophic cardiomyopathy. 71
16267253 2005
16
Molecular and muscle pathology in a series of caveolinopathy patients. 71
15580566 2005
17
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 71
14672715 2004
18
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. 71
14607462 2003
19
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 71
12767666 2003
20
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 71
10966831 2000
21
Functional consequences of a carboxyl terminal missense mutation Arg278Cys in human cardiac troponin T. 71
10405326 1999
22
Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action. 71
8958207 1996
23
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 71
8889580 1996
24
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 71
8079988 1994
25
Effect of chymotryptic troponin T subfragments on the calcium ion-sensitivity of ATPase and superprecipitation of actomyosin. 71
2946667 1986
26
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 71
7459150 1980
27
Digital palpation of the pilot balloon vs. continuous manometry for controlling the intracuff pressure in laryngeal mask airways. 38
27501056 2016
28
Effects of continuous positive airway pressure on diaphragmatic kinetics and breathing pattern in healthy individuals. 38
27253912 2016
29
Biomechanical and biochemical characterization of porcine tracheal cartilage. 38
26825682 2016
30
Open lung approach ventilation abolishes the negative effects of respiratory rate in experimental lung injury. 38
27110871 2016
31
Manual vs. pressure-controlled facemask ventilation for anaesthetic induction in paralysed children: a randomised controlled trial. 38
27109459 2016
32
Urodynamic Efficacy and Safety of Mirabegron Add-on Treatment with Tamsulosin for Japanese Male Patients with Overactive Bladder. 38
27619782 2016
33
WHICH AIRWAY PRESSURE SHOULD BE APPLIED DURING BREATH-HOLD IN DOGS UNDERGOING THORACIC COMPUTED TOMOGRAPHY? 38
27412486 2016
34
Improvement of the trigger of a ventilator for non-invasive ventilation in children: bench and clinical study. 38
25515939 2016
35
Cystometric evaluation of recovery in hypocompliant defunctionalized bladder as a result of long-term dialysis after kidney transplantation. 38
27195975 2016
36
Optimum anesthesia for reliable urethral pressure profilometry in female dogs and goats. 38
27225822 2016
37
Effect of positive end-expiratory pressure on blood loss during retropubic and robot-assisted laparoscopic radical prostatectomy. 38
27225958 2016
38
Outcomes of living donor renal transplantation in children with lower urinary tract dysfunction: a comparative retrospective study. 38
26434410 2016
39
Comparison of effects of ProSeal LMA™ laryngeal mask airway cuff inflation with air, oxygen, air:oxygen mixture and oxygen:nitrous oxide mixture in adults: A randomised, double-blind study. 38
27601739 2016
40
Zero expiratory pressure and low oxygen concentration promote heterogeneity of regional ventilation and lung densities. 38
27000315 2016
41
There is no cephalocaudal gradient of computed tomography densities or lung behavior in supine patients with acute respiratory distress syndrome. 38
26806959 2016
42
The accuracy of delivery of target pressures using self-inflating bag manometers in a benchtop study. 38
26970561 2016
43
Aquablation - image-guided robot-assisted waterjet ablation of the prostate: initial clinical experience. 38
26477826 2016
44
Functional roles of bladder α1-adrenoceptors in the activation of single-unit primary bladder afferent activity in rats. 38
26332379 2016
45
Open-label study evaluating outpatient urethral sphincter injections of onabotulinumtoxinA to treat women with urinary retention due to a primary disorder of sphincter relaxation (Fowler's syndrome). 38
26435296 2016
46
Modulation of afferent nerve activity by prostaglandin E2 upon urinary bladder distension in rats. 38
26841236 2016
47
Clinical and urodynamic effects of baclofen in women with functional bladder outlet obstruction: Preliminary report. 38
27108667 2016
48
The Tulip GT® airway versus the facemask and Guedel airway: a randomised, controlled, cross-over study by Basic Life Support-trained airway providers in anaesthetised patients. 38
26684684 2016
49
Predictive factors of stress incontinence after posterior sacral rhizotomy. 38
25392969 2016
50
A randomised comparison of the Ambu® AuraGain™ and the LMA® supreme in infants and children. 38
26648173 2016

Variations for Cardiomyopathy, Familial Hypertrophic, 2

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

6 (show top 50) (show all 146)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TNNT2 NM_000364.4(TNNT2): c.266T> A (p.Ile89Asn) single nucleotide variant Pathogenic rs121964855 1:201334766-201334766 1:201365638-201365638
2 TNNT2 TNNT2, IVS15, G-A, +1 single nucleotide variant Pathogenic
3 TNNT2 NM_000364.4(TNNT2): c.358T> A (p.Phe120Ile) single nucleotide variant Pathogenic rs121964858 1:201334372-201334372 1:201365244-201365244
4 TNNT2 NM_000364.4(TNNT2): c.451C> T (p.Arg151Trp) single nucleotide variant Pathogenic rs74315379 1:201333464-201333464 1:201364336-201364336
5 TNNT2 NM_000364.4(TNNT2): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs397516456 1:201334426-201334426 1:201365298-201365298
6 TNNT2 NM_000364.4(TNNT2): c.508_510GAG[3] (p.Glu173del) short repeat Pathogenic rs397516470 1:201332505-201332507 1:201363377-201363379
7 TNNT2 NM_000364.4(TNNT2): c.641_643AGA[3] (p.Lys217del) short repeat Pathogenic rs45578238 1:201331099-201331101 1:201361971-201361973
8 TNNT2 NM_000364.4(TNNT2): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic rs727503512 1:201332477-201332477 1:201363349-201363349
9 TNNT2 NM_000364.4(TNNT2): c.881G> A (p.Trp294Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727504247 1:201328345-201328345 1:201359217-201359217
10 TNNT2 NM_000364.4(TNNT2): c.566C> T (p.Ser189Phe) single nucleotide variant Pathogenic/Likely pathogenic rs727504246 1:201332458-201332458 1:201363330-201363330
11 TNNT2 NM_000364.4(TNNT2): c.310C> T (p.Arg104Cys) single nucleotide variant Pathogenic/Likely pathogenic rs727503513 1:201334420-201334420 1:201365292-201365292
12 TNNT2 NM_000364.4(TNNT2): c.882G> A (p.Trp294Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881116 1:201328344-201328344 1:201359216-201359216
13 TNNT2 NM_000364.4(TNNT2): c.548G> A (p.Arg183Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516471 1:201332476-201332476 1:201363348-201363348
14 TNNT2 NM_000364.4(TNNT2): c.311G> A (p.Arg104His) single nucleotide variant Pathogenic/Likely pathogenic rs397516457 1:201334419-201334419 1:201365291-201365291
15 TNNT2 NM_000364.4(TNNT2): c.418C> T (p.Arg140Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516463 1:201333497-201333497 1:201364369-201364369
16 TNNT2 NM_000364.4(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315380 1:201333494-201333494 1:201364366-201364366
17 TNNT2 NM_000364.4(TNNT2): c.305G> A (p.Arg102Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121964856 1:201334425-201334425 1:201365297-201365297
18 TNNT2 NM_000364.4(TNNT2): c.842+1G> C single nucleotide variant Likely pathogenic rs111377893 1:201328750-201328750 1:201359622-201359622
19 TNNT2 NM_000364.4(TNNT2): c.833A> T (p.Asn278Ile) single nucleotide variant Likely pathogenic rs863225119 1:201328760-201328760 1:201359632-201359632
20 TNNT2 NM_000364.4(TNNT2): c.653T> C (p.Ile218Thr) single nucleotide variant Likely pathogenic rs863225120 1:201331098-201331098 1:201361970-201361970
21 TNNT2 NM_000364.4(TNNT2): c.517G> A (p.Glu173Lys) single nucleotide variant Likely pathogenic 1:201332507-201332507 1:201363379-201363379
22 TNNT2 NM_000364.4(TNNT2): c.452G> A (p.Arg151Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs730881101 1:201333463-201333463 1:201364335-201364335
23 TNNT2 NM_000364.4(TNNT2): c.200-11A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368658464 1:201336010-201336010 1:201366882-201366882
24 TNNT2 NM_000364.4(TNNT2): c.766G> A (p.Asp256Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs141805127 1:201330442-201330442 1:201361314-201361314
25 TNNT2 NM_000364.4(TNNT2): c.683T> C (p.Ile228Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs45520032 1:201331068-201331068 1:201361940-201361940
26 TNNT2 NM_000364.4(TNNT2): c.341C> T (p.Ala114Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727504245 1:201334389-201334389 1:201365261-201365261
27 TNNT2 NM_000364.4(TNNT2): c.755C> T (p.Ala252Val) single nucleotide variant Conflicting interpretations of pathogenicity rs369181536 1:201330453-201330453 1:201361325-201361325
28 TNNT2 NM_000364.4(TNNT2): c.635G> A (p.Arg212Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121964860 1:201331116-201331116 1:201361988-201361988
29 TNNT2 NM_000364.4(TNNT2): c.634C> T (p.Arg212Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs45586240 1:201331117-201331117 1:201361989-201361989
30 TNNT2 NM_000364.4(TNNT2): c.854G> C (p.Arg285Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516484 1:201328372-201328372 1:201359244-201359244
31 TNNT2 NM_000364.4(TNNT2): c.460C> T (p.Arg154Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs483352832 1:201333455-201333455 1:201364327-201364327
32 TNNT2 NM_000364.4(TNNT2): c.794A> T (p.Lys265Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs397516482 1:201330414-201330414 1:201361286-201361286
33 TNNT2 NM_000364.3(TNNT2): c.113C> T (p.Ala38Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200754249 1:201337340-201337340 1:201368212-201368212
34 TNNT2 NM_000364.4(TNNT2): c.52+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs374443596 1:201341266-201341266 1:201372138-201372138
35 TNNT2 NM_000364.4(TNNT2): c.711-4G> T single nucleotide variant Conflicting interpretations of pathogenicity rs201753429 1:201330501-201330501 1:201361373-201361373
36 TNNT2 NM_000364.4(TNNT2): c.711-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs113471285 1:201330503-201330503 1:201361375-201361375
37 TNNT2 NM_000364.4(TNNT2): c.753G> T (p.Glu251Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs45466197 1:201330455-201330455 1:201361327-201361327
38 TNNT2 NM_000364.4(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 1:201328373-201328373 1:201359245-201359245
39 TNNT2 NM_000364.4(TNNT2): c.601-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375547142 1:201331160-201331160 1:201362032-201362032
40 TNNT2 NM_000364.4(TNNT2): c.281dup (p.Val95fs) duplication Conflicting interpretations of pathogenicity rs780087395 1:201334751-201334751 1:201365623-201365623
41 TNNT2 NM_000364.4(TNNT2): c.311G> T (p.Arg104Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397516457 1:201334419-201334419 1:201365291-201365291
42 TNNT2 NM_000364.4(TNNT2): c.321G> T (p.Lys107Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs397516459 1:201334409-201334409 1:201365281-201365281
43 TNNT2 NM_000364.4(TNNT2): c.412-6_412-4del deletion Conflicting interpretations of pathogenicity rs397516462 1:201333507-201333509 1:201364379-201364381
44 TNNT2 NM_000364.4(TNNT2): c.842+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs193922620 1:201328746-201328746 1:201359618-201359618
45 TNNT2 NM_000364.4(TNNT2): c.268C> T (p.Pro90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs397516451 1:201334764-201334764 1:201365636-201365636
46 TNNT2 NM_000364.4(TNNT2): c.270C> G (p.Pro90=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 1:201334762-201334762 1:201365634-201365634
47 TNNT2 NM_000364.4(TNNT2): c.287A> C (p.Asp96Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516455 1:201334745-201334745 1:201365617-201365617
48 TNNT2 NM_000364.4(TNNT2): c.446G> A (p.Arg149His) single nucleotide variant Conflicting interpretations of pathogenicity rs397516466 1:201333469-201333469 1:201364341-201364341
49 TNNT2 NM_000364.4(TNNT2): c.506G> A (p.Arg169Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs45501500 1:201332518-201332518 1:201363390-201363390
50 TNNT2 NM_000364.4(TNNT2): c.422G> C (p.Arg141Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516464 1:201333493-201333493 1:201364365-201364365

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

74 (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

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 TNNT2 SPAG9 SLC2A1 SEM1 NQO1 MAPK8IP1

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

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 TNNT2 SPAG9 SOD3 SLC2A1 SEM1 NQO1
2 MAP-kinase scaffold activity GO:0005078 9.26 SPAG9 MAPK8IP1
3 JUN kinase binding GO:0008432 9.16 SPAG9 MAPK8IP1
4 superoxide dismutase activity GO:0004784 8.62 SOD3 NQO1

Sources for Cardiomyopathy, Familial Hypertrophic, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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