Cardiomyopathy, Familial Hypertrophic, 13 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CMH13 MCID: CRD061 MIFTS: 33	Cardiomyopathy, Familial Hypertrophic, 13 (CMH13) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 13

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 13:

Name: Cardiomyopathy, Familial Hypertrophic, 13 ⁵⁶ ¹³ ⁷¹

Cmh13 ⁵⁶ ¹² ⁷³

Familial Hypertrophic Cardiomyopathy 13 ²⁹ ⁶

Cardiomyopathy, Hypertrophic, 13 ⁵⁶ ²⁹

Hypertrophic Cardiomyopathy 13 ¹² ¹⁵

Cardiomyopathy, Hypertrophic, Familial, Type 13 ³⁹

Cardiomyopathy, Familial Hypertrophic 13 ⁷³

Cardiomyopathy Familial Hypertrophic 13 ¹²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
variable age of onset from first to sixth decade of life

HPO:

³¹

cardiomyopathy, familial hypertrophic, 13:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110319

OMIM ⁵⁶ 613243

OMIM Phenotypic Series ⁵⁶ PS192600

MeSH ⁴³ D024741

MedGen ⁴¹ C2750472

SNOMED-CT via HPO ⁶⁸ 230145002 233873004 26141007 more

UMLS ⁷¹ C2750472

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Summaries for Cardiomyopathy, Familial Hypertrophic, 13

UniProtKB/Swiss-Prot : ⁷³ Cardiomyopathy, familial hypertrophic 13: 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, 13, also known as cmh13, is related to cardiomyopathy, familial hypertrophic, 1 and cardiomyopathy, dilated, 1ee, and has symptoms including chest pain and dyspnea on exertion. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 13 is TNNC1 (Troponin C1, Slow Skeletal And Cardiac Type). Affiliated tissues include heart and testes, and related phenotypes are atrial fibrillation and right bundle branch block

Disease Ontology : ¹² A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TNNC1 gene on chromosome 3p21.

More information from OMIM: 613243 PS192600

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Related Diseases for Cardiomyopathy, Familial Hypertrophic, 13

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, 13 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	cardiomyopathy, familial hypertrophic, 1	9.4	TNNC1 SMTNL1 CRACR2B
2	cardiomyopathy, dilated, 1ee	8.7	TNNC1 SMTNL1 CRACR2B CKMT1B

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Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 13

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 13:

³¹ (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	atrial fibrillation ³¹	occasional (7.5%)	HP:0005110
2	right bundle branch block ³¹	occasional (7.5%)	HP:0011712
3	left anterior fascicular block ³¹	occasional (7.5%)	HP:0011711
4	hypertrophic cardiomyopathy ³¹		HP:0001639
5	dyspnea ³¹		HP:0002094
6	chest pain ³¹		HP:0100749
7	syncope ³¹		HP:0001279
8	biventricular hypertrophy ³¹		HP:0200128
9	ventricular fibrillation ³¹		HP:0001663
10	st segment depression ³¹		HP:0012250

Symptoms via clinical synopsis from OMIM:

⁵⁶

Cardiovascular Heart:
chest pain
dyspnea on exertion
atrial fibrillation (in some patients)
syncope, with or without exertion
left anterior hemiblock (in some patients)
more

Clinical features from OMIM:

613243

UMLS symptoms related to Cardiomyopathy, Familial Hypertrophic, 13:

chest pain, dyspnea on exertion

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Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 13

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 13

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 13

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 13:

#	Genetic test	Affiliating Genes
1	Familial Hypertrophic Cardiomyopathy 13 ²⁹	TNNC1
2	Cardiomyopathy, Hypertrophic, 13 ²⁹

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 13

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 13:

⁴⁰

Heart, Testes

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Publications for Cardiomyopathy, Familial Hypertrophic, 13

Articles related to Cardiomyopathy, Familial Hypertrophic, 13:

(show all 28)

#	Title	Authors	PMID	Year
1	A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation. ⁵⁶ ⁶	Parvatiyar MS...Pinto JR	22815480	2012
2	Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. ⁶ ⁵⁶	Landstrom AP...Ackerman MJ	18572189	2008
3	Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. ⁶ ⁵⁶	Schmidtmann A...Jaquet K	16302972	2005
4	First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. ⁶ ⁵⁶	Hoffmann B...Gessner R	11385718	2001
5	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). ⁶	Authors/Task Force members...Watkins H	25173338	2014
6	Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. ⁶	Gutierrez Cortes N...Rocher C	22241583	2012
7	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). ⁶	Ackerman MJ...European Heart Rhythm Association (EHRA)	21810866	2011
8	Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ⁶	Pinto YM...Elliott PM	21267010	2011
9	Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. ⁶	Theis JL...Ackerman MJ	19808356	2009
10	Hypertrophic Cardiomyopathy Overview ⁶	Cirino AL...Ho C	20301725	2008
11	Mutations in sarcomere protein genes in left ventricular noncompaction. ⁶	Klaassen S...Thierfelder L	18506004	2008
12	Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. ⁶	Waldmuller S...Scheffold T	18258667	2008
13	Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. ⁶	Monserrat L...Castro-Beiras A	17611253	2007
14	Gene mutations in apical hypertrophic cardiomyopathy. ⁶	Arad M...Seidman CE	16267253	2005
15	Molecular and muscle pathology in a series of caveolinopathy patients. ⁶	Fulizio L...Angelini C	15580566	2005
16	Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. ⁶	Hayashi T...Kimura A	14672715	2004
17	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. ⁶	Maron BJ...Committee for Practice Guidelines. European Society of Cardiology	14607462	2003
18	Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. ⁵⁶	Erdmann J...Regitz-Zagrosek V	12974739	2003
19	Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. ⁵⁶	Van Driest SL...Ackerman MJ	12860912	2003
20	A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. ⁶	Taylor RW...Turnbull DM	12767666	2003
21	Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. ⁶	Olson TM...Fananapazir L	10966831	2000
22	An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. ⁶	Merante F...Robinson BH	8889580	1996
23	Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. ⁶	Merante F...Robinson BH	8079988	1994
24	Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. ⁶		7459150	1980
25	Early diastolic mitral annular velocity at the interventricular septal annulus correctly reflects left ventricular longitudinal myocardial relaxation. ⁶¹	Okada K...Tsutsui H	21908514	2011
26	Prevalence and persistence of depression in patients with implantable cardioverter defibrillator: a 2-year longitudinal study. ⁶¹	Suzuki T...Hagiwara N	20946285	2010
27	Sudden unexpected death in persons less than 40 years of age. ⁶¹	Drory Y...Kramer MR	1951130	1991
28	Abnormal left ventricular-left atrial posterior wall contour: a new two-dimensional echocardiographic sign in constrictive pericarditis. ⁶¹	D'Cruz IA...Lalmalani GG	2741779	1989

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Genes for Cardiomyopathy, Familial Hypertrophic, 13

Genes related to Cardiomyopathy, Familial Hypertrophic, 13 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TNNC1	Troponin C1, Slow Skeletal And Cardiac Type	Protein Coding	1324.84	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	22815480 16302972 11385718 (more) 18572189 21267010
2	SMTNL1	Smoothelin Like 1	Protein Coding	7.92	DISEASES inferred ¹⁵
3	CRACR2B	Calcium Release Activated Channel Regulator 2B	Protein Coding	6.92	DISEASES inferred ¹⁵
4	CKMT1B	Creatine Kinase, Mitochondrial 1B	Protein Coding	5.34	DISEASES inferred ¹⁵
5	GLA	Galactosidase Alpha	Protein Coding	5.29	DISEASES inferred ¹⁵
6	TUT4	Terminal Uridylyl Transferase 4	Protein Coding	5.25	DISEASES inferred ¹⁵

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Variations for Cardiomyopathy, Familial Hypertrophic, 13

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 13:

⁶ (show top 50) (show all 70) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TNNC1	NM_003280.3(TNNC1):c.251G>A (p.Cys84Tyr)	SNV	Pathogenic	12444	rs267607126	3:52485826-52485826	3:52451810-52451810
2	TNNC1	NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser)	SNV	Pathogenic	39832	rs397514616	3:52486233-52486233	3:52452217-52452217
3	TNNC1	NM_003280.3(TNNC1):c.210C>T (p.Gly70=)	SNV	Conflicting interpretations of pathogenicity	44677	rs141505676	3:52485867-52485867	3:52451851-52451851
4	TNNC1	NM_003280.3(TNNC1):c.108C>A (p.Ile36=)	SNV	Conflicting interpretations of pathogenicity	179034	rs202000367	3:52486216-52486216	3:52452200-52452200
5	TNNC1	NM_003280.3(TNNC1):c.387G>C (p.Thr129=)	SNV	Conflicting interpretations of pathogenicity	44679	rs397516845	3:52485474-52485474	3:52451458-52451458
6	TNNC1	NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp)	SNV	Conflicting interpretations of pathogenicity	181567	rs730881061	3:52485431-52485431	3:52451415-52451415
7	TNNC1	NM_003280.3(TNNC1):c.262G>A (p.Asp88Asn)	SNV	Conflicting interpretations of pathogenicity	181563	rs730881058	3:52485815-52485815	3:52451799-52451799
8	TNNC1	NM_003280.3(TNNC1):c.55+9C>A	SNV	Conflicting interpretations of pathogenicity	346132	rs750647348	3:52486490-52486490	3:52452474-52452474
9	TNNC1	NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)	SNV	Conflicting interpretations of pathogenicity	12443	rs267607125	3:52488009-52488009	3:52453993-52453993
10	TNNC1	NM_003280.3(TNNC1):c.213G>C (p.Thr71=)	SNV	Conflicting interpretations of pathogenicity	702219		3:52485864-52485864	3:52451848-52451848
11	TNNC1	NM_003280.3(TNNC1):c.454+6C>T	SNV	Conflicting interpretations of pathogenicity	508670	rs750021293	3:52485401-52485401	3:52451385-52451385
12	TNNC1	NM_003280.3(TNNC1):c.444C>T (p.Ile148=)	SNV	Conflicting interpretations of pathogenicity	700167		3:52485417-52485417	3:52451401-52451401
13	TNNC1	NM_003280.3(TNNC1):c.433G>A (p.Asp145Asn)	SNV	Uncertain significance	409874	rs142759728	3:52485428-52485428	3:52451412-52451412
14	TNNC1	NM_003280.3(TNNC1):c.383T>C (p.Ile128Thr)	SNV	Uncertain significance	537984	rs1553651649	3:52485478-52485478	3:52451462-52451462
15	TNNC1	NM_003280.3(TNNC1):c.157A>G (p.Thr53Ala)	SNV	Uncertain significance	537985	rs1553651742	3:52486167-52486167	3:52452151-52452151
16	TNNC1	NM_003280.3(TNNC1):c.94G>A (p.Glu32Lys)	SNV	Uncertain significance	537983	rs1553651750	3:52486230-52486230	3:52452214-52452214
17	TNNC1	NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)	SNV	Uncertain significance	12445	rs267607124	3:52485426-52485426	3:52451410-52451410
18	TNNC1	NC_000003.12:g.(?_52451265)_(52454025_?)dup	duplication	Uncertain significance	833059		3:52485281-52488041
19	TNNC1	NM_003280.3(TNNC1):c.426G>C (p.Lys142Asn)	SNV	Uncertain significance	847856		3:52485435-52485435	3:52451419-52451419
20	TNNC1	NM_003280.3(TNNC1):c.356T>C (p.Ile119Thr)	SNV	Uncertain significance	860219		3:52485505-52485505	3:52451489-52451489
21	TNNC1	NM_003280.3(TNNC1):c.155C>T (p.Pro52Leu)	SNV	Uncertain significance	848729		3:52486169-52486169	3:52452153-52452153
22	TNNC1	NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln)	SNV	Uncertain significance	12442	rs267607123	3:52486238-52486238	3:52452222-52452222
23	TNNC1	NM_003280.3(TNNC1):c.207C>G (p.Ser69Arg)	SNV	Uncertain significance	409876	rs202173903	3:52485870-52485870	3:52451854-52451854
24	TNNC1	NM_003280.3(TNNC1):c.175dup (p.Glu59fs)	duplication	Uncertain significance	409872	rs1060502609	3:52486148-52486149	3:52452132-52452133
25	TNNC1	NM_003280.3(TNNC1):c.452A>T (p.Asp151Val)	SNV	Uncertain significance	409875	rs1060502611	3:52485409-52485409	3:52451393-52451393
26	TNNC1	NM_003280.3(TNNC1):c.348G>T (p.Glu116Asp)	SNV	Uncertain significance	409873	rs1060502610	3:52485513-52485513	3:52451497-52451497
27	TNNC1	NM_003280.3(TNNC1):c.473A>C (p.Lys158Thr)	SNV	Uncertain significance	470559	rs1553651622	3:52485304-52485304	3:52451288-52451288
28	TNNC1	NM_003280.3(TNNC1):c.400G>A (p.Glu134Lys)	SNV	Uncertain significance	470558	rs1553651640	3:52485461-52485461	3:52451445-52451445
29	TNNC1	NM_003280.3(TNNC1):c.393C>A (p.Asp131Glu)	SNV	Uncertain significance	470557	rs147821122	3:52485468-52485468	3:52451452-52451452
30	TNNC1	NM_003280.3(TNNC1):c.186T>A (p.Asp62Glu)	SNV	Uncertain significance	470555	rs1553651734	3:52486138-52486138	3:52452122-52452122
31	TNNC1	NM_003280.3(TNNC1):c.140T>G (p.Met47Arg)	SNV	Uncertain significance	488170	rs1553651744	3:52486184-52486184	3:52452168-52452168
32	TNNC1	NM_003280.3(TNNC1):c.427_429AAC[1] (p.Asn144del)	short repeat	Uncertain significance	504180	rs1553651630	3:52485429-52485431	3:52451413-52451415
33	TNNC1	NM_003280.3(TNNC1):c.355A>G (p.Ile119Val)	SNV	Uncertain significance	580935	rs1559615765	3:52485506-52485506	3:52451490-52451490
34	TNNC1	NM_003280.3(TNNC1):c.337G>A (p.Asp113Asn)	SNV	Uncertain significance	567523	rs369639550	3:52485524-52485524	3:52451508-52451508
35	TNNC1	NM_003280.3(TNNC1):c.328G>T (p.Gly110Cys)	SNV	Uncertain significance	579420	rs1559615797	3:52485533-52485533	3:52451517-52451517
36	TNNC1	NM_003280.3(TNNC1):c.318-6C>G	SNV	Uncertain significance	572564	rs1559615815	3:52485549-52485549	3:52451533-52451533
37	TNNC1	NM_003280.3(TNNC1):c.203-9C>G	SNV	Uncertain significance	580342	rs754800561	3:52485883-52485883	3:52451867-52451867
38	TNNC1	NM_003280.3(TNNC1):c.68C>A (p.Ala23Asp)	SNV	Uncertain significance	565519	rs1559616263	3:52486256-52486256	3:52452240-52452240
39	TNNC1	NM_003280.3(TNNC1):c.391_393GAC[1] (p.Asp132del)	short repeat	Uncertain significance	569293	rs1559615735	3:52485465-52485467	3:52451449-52451451
40	TNNC1	NM_003280.3(TNNC1):c.419G>A (p.Gly140Glu)	SNV	Uncertain significance	643139		3:52485442-52485442	3:52451426-52451426
41	TNNC1	NM_003280.3(TNNC1):c.397A>G (p.Ile133Val)	SNV	Uncertain significance	640123		3:52485464-52485464	3:52451448-52451448
42	TNNC1	NM_003280.3(TNNC1):c.271G>A (p.Gly91Arg)	SNV	Uncertain significance	647657		3:52485806-52485806	3:52451790-52451790
43	TNNC1	NM_003280.3(TNNC1):c.55+5G>A	SNV	Uncertain significance	649043		3:52486494-52486494	3:52452478-52452478
44	TNNC1	NM_003280.3(TNNC1):c.189G>T (p.Glu63Asp)	SNV	Uncertain significance	221030	rs864622721	3:52486135-52486135	3:52452119-52452119
45	TNNC1	NM_003280.3(TNNC1):c.*75G>A	SNV	Uncertain significance	346130	rs886058706	3:52485216-52485216	3:52451200-52451200
46	TNNC1	NM_003280.3(TNNC1):c.4G>A (p.Asp2Asn)	SNV	Uncertain significance	346133	rs886058707	3:52488028-52488028	3:52454012-52454012
47	TNNC1	NM_003280.3(TNNC1):c.155C>G (p.Pro52Arg)	SNV	Uncertain significance	181572	rs730881065	3:52486169-52486169	3:52452153-52452153
48	TNNC1	NM_003280.3(TNNC1):c.26T>G (p.Val9Gly)	SNV	Uncertain significance	181560	rs730881056	3:52486528-52486528	3:52452512-52452512
49	TNNC1	NM_003280.3(TNNC1):c.184G>A (p.Asp62Asn)	SNV	Uncertain significance	265805	rs1040079072	3:52486140-52486140	3:52452124-52452124
50	TNNC1	NM_003280.3(TNNC1):c.*127C>T	SNV	Uncertain significance	346128	rs41292360	3:52485164-52485164	3:52451148-52451148

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 13:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	TNNC1	p.Leu29Gln	VAR_019776	rs267607123
2	TNNC1	p.Ala8Val	VAR_063070	rs267607125
3	TNNC1	p.Cys84Tyr	VAR_063071	rs267607126
4	TNNC1	p.Glu134Asp	VAR_063072	rs397516847
5	TNNC1	p.Asp145Glu	VAR_063073	rs267607124

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Expression for Cardiomyopathy, Familial Hypertrophic, 13

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 13.

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Pathways for Cardiomyopathy, Familial Hypertrophic, 13

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GO Terms for Cardiomyopathy, Familial Hypertrophic, 13

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 13 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	contractile fiber	GO:0043292	8.62	TNNC1 SMTNL1

Sources

Sources for Cardiomyopathy, Familial Hypertrophic, 13

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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Cardiomyopathy, Familial Hypertrophic, 13 (CMH13)

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 13

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 13:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cardiomyopathy, Familial Hypertrophic, 13

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 13

Diseases in the Hypertrophic Cardiomyopathy family:

Diseases related to Cardiomyopathy, Familial Hypertrophic, 13 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 13

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 13:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Cardiomyopathy, Familial Hypertrophic, 13:

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 13

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 13

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 13:

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 13

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 13:

Publications for Cardiomyopathy, Familial Hypertrophic, 13

Articles related to Cardiomyopathy, Familial Hypertrophic, 13:

Genes for Cardiomyopathy, Familial Hypertrophic, 13

Genes related to Cardiomyopathy, Familial Hypertrophic, 13 (1 elite genes):

Variations for Cardiomyopathy, Familial Hypertrophic, 13

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 13:

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 13:

Expression for Cardiomyopathy, Familial Hypertrophic, 13

Pathways for Cardiomyopathy, Familial Hypertrophic, 13

GO Terms for Cardiomyopathy, Familial Hypertrophic, 13

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 13 according to GeneCards Suite gene sharing:

Sources for Cardiomyopathy, Familial Hypertrophic, 13