Cardiomyopathy, Familial Hypertrophic, 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CMH7 MCID: CRD062 MIFTS: 35	Cardiomyopathy, Familial Hypertrophic, 7 (CMH7) 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, 7

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 7:

Name: Cardiomyopathy, Familial Hypertrophic, 7 ⁵⁶ ¹³ ⁷¹

Cmh7 ⁵⁶ ¹² ⁷³

Cardiomyopathy, Familial Hypertrophic 7 ¹² ⁷³

Familial Hypertrophic Cardiomyopathy 7 ²⁹ ⁶

Cardiomyopathy, Hypertrophic, 7 ⁵⁶ ²⁹

Hypertrophic Cardiomyopathy 7 ¹² ¹⁵

Cardiomyopathy, Hypertrophic, Familial, Type 7 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )
sudden cardiac death in some families

HPO:

³¹

cardiomyopathy, familial hypertrophic, 7:
Inheritance autosomal dominant inheritance heterogeneous

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:0110313

OMIM ⁵⁶ 613690

OMIM Phenotypic Series ⁵⁶ PS192600

MeSH ⁴³ D024741

MedGen ⁴¹ C1860752 CN069699

SNOMED-CT via HPO ⁶⁸ 263681008 266249003 49436004 more

UMLS ⁷¹ C1860752

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Summaries for Cardiomyopathy, Familial Hypertrophic, 7

UniProtKB/Swiss-Prot : ⁷³ Cardiomyopathy, familial hypertrophic 7: 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, 7, also known as cmh7, is related to familial isolated dilated cardiomyopathy and intrinsic cardiomyopathy. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 7 is TNNI3 (Troponin I3, Cardiac Type). Affiliated tissues include heart and testes, and related phenotypes are atrial fibrillation and cardiomyopathy

Disease Ontology : ¹² A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4.

More information from OMIM: 613690 PS192600

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Related Diseases for Cardiomyopathy, Familial Hypertrophic, 7

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

#	Related Disease	Score	Top Affiliating Genes
1	familial isolated dilated cardiomyopathy	9.9	TNNI3 CSRP3
2	intrinsic cardiomyopathy	9.8	TNNI3 CSRP3
3	atrial standstill 1	9.8	TNNI3 CSRP3
4	restrictive cardiomyopathy	9.7	TNNI3 CSRP3
5	left ventricular noncompaction	9.5	TNNI3 CSRP3
6	cardiomyopathy, dilated, 1p	9.4	TMED2 PNPLA4 CDC42SE1
7	cardiomyopathy, dilated, 1m	8.7	TNNI3 TMED2 PNPLA4 CSRP3 CDC42SE1

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 7:

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Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 7

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 7:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	atrial fibrillation ³¹	occasional (7.5%)	HP:0005110
2	cardiomyopathy ³¹		HP:0001638
3	ventricular hypertrophy ³¹		HP:0001714

Symptoms via clinical synopsis from OMIM:

⁵⁶

Cardiovascular Heart:
ventricular hypertrophy
atrial fibrillation (in some patients)
apical hypertrophy (in some patients)
ventricular preexcitation, wolff-parkinson-white (in some patients)

Clinical features from OMIM:

613690

GenomeRNAi Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 7 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased human papilloma virus 16 (HPV16) pseudovirus infection	GR00306-A	8.8	CSRP3 PNPLA4 TMED2

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Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 7

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 7

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 7

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 7:

#	Genetic test	Affiliating Genes
1	Familial Hypertrophic Cardiomyopathy 7 ²⁹	TNNI3
2	Cardiomyopathy, Hypertrophic, 7 ²⁹

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 7

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 7:

⁴⁰

Heart, Testes

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Publications for Cardiomyopathy, Familial Hypertrophic, 7

Articles related to Cardiomyopathy, Familial Hypertrophic, 7:

(show all 37)

#	Title	Authors	PMID	Year
1	Gene mutations in apical hypertrophic cardiomyopathy. ⁶ ⁵⁶	Arad M...Seidman CE	16267253	2005
2	Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. ⁵⁶ ⁶	Niimura H...Seidman CE	11815426	2002
3	Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. ⁶ ⁵⁶	Kimura A...Sasazuki T	9241277	1997
4	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. ⁶	Kalia SS...Miller DT	27854360	2017
5	ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ⁶	ACMG Board of Directors	25356965	2015
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). ⁶	Authors/Task Force members...Watkins H	25173338	2014
7	ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ⁶	Green RC...American College of Medical Genetics and Genomics	23788249	2013
8	Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. ⁶	Gutierrez Cortes N...Rocher C	22241583	2012
9	Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ⁶	Pinto YM...Elliott PM	21267010	2011
10	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
11	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
12	Hypertrophic Cardiomyopathy Overview ⁶	Cirino AL...Ho C	20301725	2008
13	Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. ⁶	Frazier A...Murphy AM	18175163	2008
14	Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice. ⁶	Wen Y...Kerrick WG	18430738	2008
15	Mutations in sarcomere protein genes in left ventricular noncompaction. ⁶	Klaassen S...Thierfelder L	18506004	2008
16	Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. ⁶	Waldmuller S...Scheffold T	18258667	2008
17	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
18	Molecular and muscle pathology in a series of caveolinopathy patients. ⁶	Fulizio L...Angelini C	15580566	2005
19	Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. ⁶	Hayashi T...Kimura A	14672715	2004
20	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
21	A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. ⁶	Taylor RW...Turnbull DM	12767666	2003
22	Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. ⁶	Mogensen J...McKenna WJ	12531876	2003
23	Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. ⁶	Lang R...Potter JD	11801593	2002
24	Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. ⁶	Olson TM...Fananapazir L	10966831	2000
25	Troponin I: inhibitor or facilitator. ⁶	Perry SV	10098965	1999
26	An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. ⁶	Merante F...Robinson BH	8889580	1996
27	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
28	Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. ⁶		7459150	1980
29	Incidence and Etiology of Sudden Cardiac Arrest and Death in High School Athletes in the United States. ⁶¹	Harmon KG...Drezner JA	27692971	2016
30	Morphologic features of the recipient heart in patients having cardiac transplantation and analysis of the congruence or incongruence between the clinical and morphologic diagnoses. ⁶¹	Roberts WC...Hall SA	25181314	2014
31	Day-to-day reproducibility of Holter beat-by-beat analysis of repolarisation. ⁶¹	Baranowski R...Rydlewska-Sadowska W	12846507	2003
32	[Functional maneuvers for the diagnosis of hypertrophic cardiomyopathies with and without left ventricular outflow obstruction]. ⁶¹	Anselmino M...Brusca A	8104697	1993
33	[Mitral annulus calcification: clinical observation on 72 patients]. ⁶¹	Fang BR...Lee YS	1677408	1991
34	The progression of hypertrophic cardiomyopathy: dilatation of the left ventricle with supernormal systolic function. ⁶¹	Pelliccia F...Romeo F	2137433	1990
35	[Hypertrophic cardiomyopathy. Correlation between the morphologic-quantitative data of the 2-dimensional echocardiogram and electro-vectorcardiographic aspects]. ⁶¹	De Piccoli B...Piccolo E	3743930	1986
36	Twenty-five years of progress in the medical treatment of pediatric and congenital heart disease. ⁶¹	McNamara DG	6131085	1983
37	Echocardiographic assessment of left ventricular wall motion in hypertrophic cardiomyopathy. ⁶¹	Gullace G...Savoia MT	6892016	1982

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Genes for Cardiomyopathy, Familial Hypertrophic, 7

Genes related to Cardiomyopathy, Familial Hypertrophic, 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TNNI3	Troponin I3, Cardiac Type	Protein Coding	1323.92	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	16267253 18175163 14607462 (more) 11815426 11801593 25173338 18430738 12531876 10098965 27854360 20301725 9241277 21267010 23788249 21810866 25356965
2	CDC42SE1	CDC42 Small Effector 1	Protein Coding	7.4	DISEASES inferred ¹⁵
3	PNPLA4	Patatin Like Phospholipase Domain Containing 4	Protein Coding	7.06	DISEASES inferred ¹⁵
4	TMED2	Transmembrane P24 Trafficking Protein 2	Protein Coding	6.95	DISEASES inferred ¹⁵
5	MEIG1	Meiosis/Spermiogenesis Associated 1	Protein Coding	6.73	DISEASES inferred ¹⁵
6	CSRP3	Cysteine And Glycine Rich Protein 3	Protein Coding	6.28	DISEASES inferred ¹⁵

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Variations for Cardiomyopathy, Familial Hypertrophic, 7

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 7:

⁶ (show all 43) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TNNI3	NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly)	SNV	Pathogenic	12423	rs104894728	19:55663266-55663266	19:55151898-55151898
2	TNNI3	NM_000363.5(TNNI3):c.607G>A (p.Gly203Ser)	SNV	Pathogenic	12432	rs267607127	19:55663228-55663228	19:55151860-55151860
3	TNNI3	TNNI3, 3-BP DEL, LYS183	deletion	Pathogenic	12433
4	TNNI3	NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys)	SNV	Pathogenic	12434	rs267607128	19:55668465-55668465	19:55157097-55157097
5	TNNI3	NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly)	SNV	Pathogenic	12419	rs104894724	19:55665514-55665514	19:55154146-55154146
6	TNNI3	NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln)	SNV	Pathogenic	12420	rs104894725	19:55663219-55663219	19:55151851-55151851
7	TNNI3	NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)	SNV	Pathogenic	43388	rs397516353	19:55665477-55665477	19:55154109-55154109
8	TNNI3	NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)	SNV	Pathogenic/Likely pathogenic	43389	rs397516354	19:55665462-55665462	19:55154094-55154094
9	TNNI3	NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)	SNV	Pathogenic/Likely pathogenic	43384	rs397516349	19:55665513-55665513	19:55154145-55154145
10	TNNI3	NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	SNV	Pathogenic/Likely pathogenic	161396	rs368861241	19:55665463-55665463	19:55154095-55154095
11	TNNI3	NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)	SNV	Likely pathogenic	12422	rs104894727	19:55663249-55663249	19:55151881-55151881
12	DNAAF3 , TNNI3	NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)	SNV	Conflicting interpretations of pathogenicity	257685	rs111250144	19:55670808-55670808	19:55159440-55159440
13	DNAAF3 , TNNI3	NM_000363.5(TNNI3):c.537G>A (p.Glu179=)	SNV	Conflicting interpretations of pathogenicity	43391	rs3729841	19:55665410-55665410	19:55154042-55154042
14	TNNI3	NM_000363.5(TNNI3):c.139T>C (p.Leu47=)	SNV	Conflicting interpretations of pathogenicity	137685	rs587780967	19:55667982-55667982	19:55156614-55156614
15	TNNI3	NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)	SNV	Conflicting interpretations of pathogenicity	177630	rs727504242	19:55665450-55665450	19:55154082-55154082
16	TNNI3	NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly)	SNV	Conflicting interpretations of pathogenicity	165517	rs727503504	19:55665439-55665439	19:55154071-55154071
17	TNNI3	NM_000363.5(TNNI3):c.372+7C>T	SNV	Conflicting interpretations of pathogenicity	165519	rs367809676	19:55666102-55666102	19:55154734-55154734
18	TNNI3	NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn)	SNV	Conflicting interpretations of pathogenicity	181603	rs730881091	19:55663239-55663239	19:55151871-55151871
19	TNNI3	NM_000363.5(TNNI3):c.*35C>T	SNV	Conflicting interpretations of pathogenicity	188677	rs375447438	19:55663167-55663167	19:55151799-55151799
20	TNNI3	NM_000363.5(TNNI3):c.-47C>T	SNV	Conflicting interpretations of pathogenicity	188667	rs202159627	19:55669004-55669004	19:55157636-55157636
21	TNNI3	NM_000363.5(TNNI3):c.-98C>A	SNV	Conflicting interpretations of pathogenicity	188666	rs12973773	19:55669055-55669055	19:55157687-55157687
22	TNNI3	NM_000363.5(TNNI3):c.151-6C>G	SNV	Conflicting interpretations of pathogenicity	43363	rs377258542	19:55667706-55667706	19:55156338-55156338
23	DNAAF3 , TNNI3	NM_000363.5(TNNI3):c.204G>T (p.Arg68=)	SNV	Conflicting interpretations of pathogenicity	43366	rs3729711	19:55667647-55667647	19:55156279-55156279
24	TNNI3	NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)	SNV	Conflicting interpretations of pathogenicity	43367	rs3729712	19:55667616-55667616	19:55156248-55156248
25	TNNI3	NM_000363.5(TNNI3):c.273G>A (p.Ala91=)	SNV	Conflicting interpretations of pathogenicity	43372	rs75491697	19:55667578-55667578	19:55156210-55156210
26	TNNI3	NM_000363.5(TNNI3):c.373-15C>G	SNV	Conflicting interpretations of pathogenicity	43377	rs192630178	19:55665589-55665589	19:55154221-55154221
27	TNNI3	NM_000363.5(TNNI3):c.373-4C>G	SNV	Conflicting interpretations of pathogenicity	43378	rs2288530	19:55665578-55665578	19:55154210-55154210
28	DNAAF3 , TNNI3 , TNNT1	NM_000363.5(TNNI3):c.373-10=	SNV	Conflicting interpretations of pathogenicity	36881	rs7252610	19:55665584-55665584	19:55154216-55154216
29	TNNI3	NM_000363.5(TNNI3):c.283-9C>T	SNV	Conflicting interpretations of pathogenicity	330199	rs759922995	19:55666207-55666207	19:55154839-55154839
30	FHOD3	NM_025135.5(FHOD3):c.1418T>C (p.Ile473Thr)	SNV	Uncertain significance	873501		18:34261506-34261506	18:36681543-36681543
31	TNNI3	NM_000363.5(TNNI3):c.*44A>G	SNV	Uncertain significance	893714		19:55663158-55663158	19:55151790-55151790
32	TNNI3	NM_000363.5(TNNI3):c.466C>G (p.Gln156Glu)	SNV	Uncertain significance	894379		19:55665481-55665481	19:55154113-55154113
33	TNNI3	NM_000363.5(TNNI3):c.104C>A (p.Ala35Asp)	SNV	Uncertain significance	894052		19:55668422-55668422	19:55157054-55157054
34	TNNI3	NM_000363.5(TNNI3):c.-45C>T	SNV	Uncertain significance	893021		19:55669002-55669002	19:55157634-55157634
35	TNNI3	NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=)	SNV	Uncertain significance	894093		19:55672066-55672066	19:55160698-55160698
36	TNNI3	NM_001256715.2(DNAAF3):c.484C>A (p.Arg162Ser)	SNV	Uncertain significance	894094		19:55673190-55673190	19:55161822-55161822
37	TNNI3	NM_000363.5(TNNI3):c.109-15A>G	SNV	Uncertain significance	229330	rs779144176	19:55668027-55668027	19:55156659-55156659
38	TNNI3	NM_000363.5(TNNI3):c.550-11C>T	SNV	Uncertain significance	330198	rs886054635	19:55663296-55663296	19:55151928-55151928
39	DNAAF3 , TNNI3	NM_000363.5(TNNI3):c.-35C>A	SNV	Benign/Likely benign	137687	rs3729707	19:55668992-55668992	19:55157624-55157624
40	DNAAF3 , TNNI3	NM_000363.5(TNNI3):c.150+13G>A	SNV	Benign/Likely benign	43362	rs73617692	19:55667958-55667958	19:55156590-55156590
41	DNAAF3 , TNNI3	NM_000363.5(TNNI3):c.25-8T>A	SNV	Benign/Likely benign	43371	rs3729836	19:55668509-55668509	19:55157141-55157141
42	TNNI3	NM_000363.5(TNNI3):c.198G>A (p.Glu66=)	SNV	Benign/Likely benign	43364	rs3729710	19:55667653-55667653	19:55156285-55156285
43	TNNI3	NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)	SNV	Benign/Likely benign	12421	rs77615401	19:55667607-55667607	19:55156239-55156239

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 7:

⁷³ (show all 11)

#	Symbol	AA change	Variation ID	SNP ID
1	TNNI3	p.Arg145Gly	VAR_007603	rs104894724
2	TNNI3	p.Lys206Gln	VAR_007604	rs104894725
3	TNNI3	p.Asp190His	VAR_016083
4	TNNI3	p.Asp196Asn	VAR_016085	rs104894727
5	TNNI3	p.Arg141Gln	VAR_019872	rs397516347
6	TNNI3	p.Ala157Val	VAR_019873	rs397516353
7	TNNI3	p.Arg162Pro	VAR_019874	rs397516354
8	TNNI3	p.Arg186Gln	VAR_019876	rs397516357
9	TNNI3	p.Ser166Phe	VAR_029454	rs727504242
10	TNNI3	p.Arg162Gln	VAR_042745	rs397516354
11	TNNI3	p.Arg204His	VAR_042746	rs727504275

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Expression for Cardiomyopathy, Familial Hypertrophic, 7

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 7.

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Pathways for Cardiomyopathy, Familial Hypertrophic, 7

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GO Terms for Cardiomyopathy, Familial Hypertrophic, 7

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	sarcomere	GO:0030017	8.62	TNNI3 CSRP3

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular calcium ion homeostasis	GO:0006874	9.16	TNNI3 CSRP3
2	negative regulation of GTPase activity	GO:0034260	8.96	TMED2 CDC42SE1
3	cardiac muscle contraction	GO:0060048	8.62	TNNI3 CSRP3

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Sources for Cardiomyopathy, Familial Hypertrophic, 7

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

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Cardiomyopathy, Familial Hypertrophic, 7 (CMH7)

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 7

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 7:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cardiomyopathy, Familial Hypertrophic, 7

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 7

Diseases in the Hypertrophic Cardiomyopathy family:

Diseases related to Cardiomyopathy, Familial Hypertrophic, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 7:

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 7

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 7:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 7 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 7

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 7

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 7:

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 7

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 7:

Publications for Cardiomyopathy, Familial Hypertrophic, 7

Articles related to Cardiomyopathy, Familial Hypertrophic, 7:

Genes for Cardiomyopathy, Familial Hypertrophic, 7

Genes related to Cardiomyopathy, Familial Hypertrophic, 7 (1 elite genes):

Variations for Cardiomyopathy, Familial Hypertrophic, 7

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 7:

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 7:

Expression for Cardiomyopathy, Familial Hypertrophic, 7

Pathways for Cardiomyopathy, Familial Hypertrophic, 7

GO Terms for Cardiomyopathy, Familial Hypertrophic, 7

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 7 according to GeneCards Suite gene sharing:

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 7 according to GeneCards Suite gene sharing:

Sources for Cardiomyopathy, Familial Hypertrophic, 7