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

CMH7 MCID: CRD062 MIFTS: 32	Cardiomyopathy, Familial Hypertrophic, 7 (CMH7) Categories: Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations 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 ⁵⁷ ¹³ ⁷⁰

Cmh7 ⁵⁷ ¹² ⁷²

Cardiomyopathy, Familial Hypertrophic 7 ¹² ⁷²

Familial Hypertrophic Cardiomyopathy 7 ²⁹ ⁶

Hypertrophic Cardiomyopathy 7 ¹² ¹⁵

Cardiomyopathy, Hypertrophic, Familial, Type 7 ³⁹

Cardiomyopathy, Hypertrophic, 7 ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110313

OMIM® ⁵⁷ 613690

OMIM Phenotypic Series ⁵⁷ PS192600

MeSH ⁴⁴ D024741

MedGen ⁴¹ C1860752 CN069699

SNOMED-CT via HPO ⁶⁸ 263681008 266249003 49436004 more

UMLS ⁷⁰ C1860752

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Summaries for Cardiomyopathy, Familial Hypertrophic, 7

UniProtKB/Swiss-Prot : ⁷² 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 intrinsic cardiomyopathy and restrictive cardiomyopathy. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 7 is TNNI3 (Troponin I3, Cardiac Type). 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	intrinsic cardiomyopathy	9.9	TNNI3 CSRP3
2	restrictive cardiomyopathy	9.9	TNNI3 CSRP3
3	atrial standstill 1	9.8	TNNI3 CSRP3
4	left ventricular noncompaction	9.7	TNNI3 CSRP3
5	cardiomyopathy, dilated, 1p	9.6	TMED2 PNPLA4 CDC42SE1
6	cardiomyopathy, dilated, 1m	9.1	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®:

⁵⁷ (Updated 05-Apr-2021)

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 (Updated 05-Apr-2021)

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

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 7

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Publications for Cardiomyopathy, Familial Hypertrophic, 7

Articles related to Cardiomyopathy, Familial Hypertrophic, 7:

(show all 28)

#	Title	Authors	PMID	Year
1	Gene mutations in apical hypertrophic cardiomyopathy. ⁶ ⁵⁷	Arad M...Seidman CE	16267253	2005
2	Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. ⁵⁷ ⁶	Niimura H...Seidman CE	11815426	2002
3	Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. ⁵⁷ ⁶	Kimura A...Sasazuki T	9241277	1997
4	Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. ⁶	Das K J...Semsarian C	24113344	2014
5	Homozygous mutation in the cardiac troponin I gene: clinical heterogeneity in hypertrophic cardiomyopathy. ⁶	Gray B...Semsarian C	23270746	2013
6	High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. ⁶	Rani DS...Thangaraj K	22876777	2012
7	High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. ⁶	Santos S...Fernandes AR	22429680	2012
8	Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. ⁶	Gruner C...Rakowski H	21511876	2011
9	Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy. ⁶	Kubo T...Doi YL	21799269	2011
10	Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. ⁶	Frazier A...Murphy AM	18175163	2008
11	Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice. ⁶	Wen Y...Kerrick WG	18430738	2008
12	Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. ⁶	Doolan A...Semsarian C	15698845	2005
13	Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. ⁶	Mogensen J...McKenna WJ	15607392	2004
14	Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. ⁶	Van Driest SL...Ackerman MJ	12860912	2003
15	Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. ⁶	Mogensen J...McKenna WJ	12531876	2003
16	Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. ⁶	Lang R...Potter JD	11801593	2002
17	Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy. ⁶	Takahashi-Yanaga F...Ohtsuki I	11735257	2001
18	Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. ⁶	Elliott K...Redwood CS	10806205	2000
19	Troponin I: inhibitor or facilitator. ⁶	Perry SV	10098965	1999
20	Incidence and Etiology of Sudden Cardiac Arrest and Death in High School Athletes in the United States. ⁶¹	Harmon KG...Drezner JA	27692971	2016
21	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
22	Day-to-day reproducibility of Holter beat-by-beat analysis of repolarisation. ⁶¹	Baranowski R...Rydlewska-Sadowska W	12846507	2003
23	[Functional maneuvers for the diagnosis of hypertrophic cardiomyopathies with and without left ventricular outflow obstruction]. ⁶¹	Anselmino M...Brusca A	8104697	1993
24	[Mitral annulus calcification: clinical observation on 72 patients]. ⁶¹	Fang BR...Lee YS	1677408	1991
25	The progression of hypertrophic cardiomyopathy: dilatation of the left ventricle with supernormal systolic function. ⁶¹	Pelliccia F...Romeo F	2137433	1990
26	[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
27	Twenty-five years of progress in the medical treatment of pediatric and congenital heart disease. ⁶¹	McNamara DG	6131085	1983
28	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	PubMed IDs
1	TNNI3	Troponin I3, Cardiac Type	Protein Coding	1348.45	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	9241277
2	CDC42SE1	CDC42 Small Effector 1	Protein Coding	7.36	DISEASES inferred ¹⁵
3	PNPLA4	Patatin Like Phospholipase Domain Containing 4	Protein Coding	6.98	DISEASES inferred ¹⁵
4	TMED2	Transmembrane P24 Trafficking Protein 2	Protein Coding	6.86	DISEASES inferred ¹⁵
5	MEIG1	Meiosis/Spermiogenesis Associated 1	Protein Coding	6.71	DISEASES inferred ¹⁵
6	CSRP3	Cysteine And Glycine Rich Protein 3	Protein Coding	6.22	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 48)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TNNI3	NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln)	SNV	Pathogenic	12420	rs104894725	GRCh37: 19:55663219-55663219 GRCh38: 19:55151851-55151851
2	TNNI3	NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly)	SNV	Pathogenic	12423	rs104894728	GRCh37: 19:55663266-55663266 GRCh38: 19:55151898-55151898
3	TNNI3	NM_000363.5(TNNI3):c.607G>A (p.Gly203Ser)	SNV	Pathogenic	12432	rs267607127	GRCh37: 19:55663228-55663228 GRCh38: 19:55151860-55151860
4	TNNI3	TNNI3, 3-BP DEL, LYS183	Deletion	Pathogenic	12433		GRCh37: GRCh38:
5	TNNI3	NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys)	SNV	Pathogenic	12434	rs267607128	GRCh37: 19:55668465-55668465 GRCh38: 19:55157097-55157097
6	TNNI3	NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly)	SNV	Pathogenic	12419	rs104894724	GRCh37: 19:55665514-55665514 GRCh38: 19:55154146-55154146
7	TNNI3	NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)	SNV	Pathogenic	12422	rs104894727	GRCh37: 19:55663249-55663249 GRCh38: 19:55151881-55151881
8	TNNI3	NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)	SNV	Pathogenic	43389	rs397516354	GRCh37: 19:55665462-55665462 GRCh38: 19:55154094-55154094
9	TNNI3	NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)	SNV	Pathogenic	43388	rs397516353	GRCh37: 19:55665477-55665477 GRCh38: 19:55154109-55154109
10	TNNI3	NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)	SNV	Pathogenic	43384	rs397516349	GRCh37: 19:55665513-55665513 GRCh38: 19:55154145-55154145
11	TNNI3	NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)	SNV	Pathogenic	43395	rs397516357	GRCh37: 19:55663278-55663278 GRCh38: 19:55151910-55151910
12	TNNI3	NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu)	SNV	Pathogenic	12425	rs104894730	GRCh37: 19:55665415-55665415 GRCh38: 19:55154047-55154047
13	TNNI3	NM_000363.5(TNNI3):c.258del (p.Leu88fs)	Deletion	Pathogenic	165522	rs727503507	GRCh37: 19:55667593-55667593 GRCh38: 19:55156225-55156225
14	TNNI3	NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	SNV	Pathogenic/Likely pathogenic	161396	rs368861241	GRCh37: 19:55665463-55665463 GRCh38: 19:55154095-55154095
15	TNNI3	NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)	SNV	Likely pathogenic	177630	rs727504242	GRCh37: 19:55665450-55665450 GRCh38: 19:55154082-55154082
16	TNNI3	NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly)	SNV	Likely pathogenic	165517	rs727503504	GRCh37: 19:55665439-55665439 GRCh38: 19:55154071-55154071
17	TNNI3	NM_000363.5(TNNI3):c.372+7C>T	SNV	Uncertain significance	165519	rs367809676	GRCh37: 19:55666102-55666102 GRCh38: 19:55154734-55154734
18	TNNI3	NM_000363.5(TNNI3):c.550-11C>T	SNV	Uncertain significance	330198	rs886054635	GRCh37: 19:55663296-55663296 GRCh38: 19:55151928-55151928
19	TNNI3	NM_000363.5(TNNI3):c.283-9C>T	SNV	Uncertain significance	330199	rs759922995	GRCh37: 19:55666207-55666207 GRCh38: 19:55154839-55154839
20	FHOD3	NM_025135.5(FHOD3):c.1418T>C (p.Ile473Thr)	SNV	Uncertain significance	873501		GRCh37: 18:34261506-34261506 GRCh38: 18:36681543-36681543
21	TNNI3	NM_000363.5(TNNI3):c.-45C>T	SNV	Uncertain significance	893021		GRCh37: 19:55669002-55669002 GRCh38: 19:55157634-55157634
22	TNNI3	NM_000363.5(TNNI3):c.373-15C>G	SNV	Uncertain significance	43377	rs192630178	GRCh37: 19:55665589-55665589 GRCh38: 19:55154221-55154221
23	TNNI3	NM_000363.5(TNNI3):c.109-15A>G	SNV	Uncertain significance	229330	rs779144176	GRCh37: 19:55668027-55668027 GRCh38: 19:55156659-55156659
24	TNNI3	NM_000363.5(TNNI3):c.104C>A (p.Ala35Asp)	SNV	Uncertain significance	894052		GRCh37: 19:55668422-55668422 GRCh38: 19:55157054-55157054
25	TNNI3 , DNAAF3	NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=)	SNV	Uncertain significance	894093		GRCh37: 19:55672066-55672066 GRCh38: 19:55160698-55160698
26	TNNI3 , DNAAF3	NM_001256715.2(DNAAF3):c.484C>A (p.Arg162Ser)	SNV	Uncertain significance	894094		GRCh37: 19:55673190-55673190 GRCh38: 19:55161822-55161822
27	TNNI3	NM_000363.5(TNNI3):c.466C>G (p.Gln156Glu)	SNV	Uncertain significance	894379		GRCh37: 19:55665481-55665481 GRCh38: 19:55154113-55154113
28	TNNI3	NM_000363.5(TNNI3):c.373-4C>G	SNV	Uncertain significance	43378	rs2288530	GRCh37: 19:55665578-55665578 GRCh38: 19:55154210-55154210
29	TNNI3	NM_000363.5(TNNI3):c.206G>A (p.Arg69His)	SNV	Uncertain significance	992364		GRCh37: 19:55667645-55667645 GRCh38: 19:55156277-55156277
30	TNNI3	NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn)	SNV	Uncertain significance	181603	rs730881091	GRCh37: 19:55663239-55663239 GRCh38: 19:55151871-55151871
31	TNNI3	NM_000363.5(TNNI3):c.*44A>G	SNV	Uncertain significance	893714		GRCh37: 19:55663158-55663158 GRCh38: 19:55151790-55151790
32	TNNI3	NM_000363.5(TNNI3):c.151-6C>G	SNV	Uncertain significance	43363	rs377258542	GRCh37: 19:55667706-55667706 GRCh38: 19:55156338-55156338
33	TNNI3	NM_000363.5(TNNI3):c.139T>C (p.Leu47=)	SNV	Uncertain significance	137685	rs587780967	GRCh37: 19:55667982-55667982 GRCh38: 19:55156614-55156614
34	TNNI3	NM_000363.5(TNNI3):c.347C>G (p.Ala116Gly)	SNV	Uncertain significance	575867	rs777177571	GRCh37: 19:55666134-55666134 GRCh38: 19:55154766-55154766
35	TNNI3	NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)	SNV	Likely benign	43367	rs3729712	GRCh37: 19:55667616-55667616 GRCh38: 19:55156248-55156248
36	TNNI3	NM_000363.5(TNNI3):c.273G>A (p.Ala91=)	SNV	Likely benign	43372	rs75491697	GRCh37: 19:55667578-55667578 GRCh38: 19:55156210-55156210
37	TNNI3	NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)	SNV	Likely benign	12421	rs77615401	GRCh37: 19:55667607-55667607 GRCh38: 19:55156239-55156239
38	TNNI3	NM_000363.5(TNNI3):c.-98C>A	SNV	Likely benign	188666		GRCh37: 19:55669055-55669055 GRCh38: 19:55157687-55157687
39	TNNI3 , DNAAF3	NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)	SNV	Likely benign	257685	rs111250144	GRCh37: 19:55670808-55670808 GRCh38: 19:55159440-55159440
40	TNNI3	NM_000363.5(TNNI3):c.*35C>T	SNV	Likely benign	188677	rs375447438	GRCh37: 19:55663167-55663167 GRCh38: 19:55151799-55151799
41	DNAAF3 , TNNI3	NM_000363.5(TNNI3):c.204G>T (p.Arg68=)	SNV	Benign	43366	rs3729711	GRCh37: 19:55667647-55667647 GRCh38: 19:55156279-55156279
42	TNNI3	NM_000363.5(TNNI3):c.198G>A (p.Glu66=)	SNV	Benign	43364	rs3729710	GRCh37: 19:55667653-55667653 GRCh38: 19:55156285-55156285
43	TNNI3	NM_000363.5(TNNI3):c.-47C>T	SNV	Benign	188667	rs202159627	GRCh37: 19:55669004-55669004 GRCh38: 19:55157636-55157636
44	DNAAF3 , TNNI3	NM_000363.5(TNNI3):c.25-8T>A	SNV	Benign	43371	rs3729836	GRCh37: 19:55668509-55668509 GRCh38: 19:55157141-55157141
45	DNAAF3 , TNNI3	NM_000363.5(TNNI3):c.-35C>A	SNV	Benign	137687	rs3729707	GRCh37: 19:55668992-55668992 GRCh38: 19:55157624-55157624
46	DNAAF3 , TNNI3	NM_000363.5(TNNI3):c.537G>A (p.Glu179=)	SNV	Benign	43391	rs3729841	GRCh37: 19:55665410-55665410 GRCh38: 19:55154042-55154042
47	DNAAF3 , TNNT1 , TNNI3	NM_000363.5(TNNI3):c.373-10=	SNV	Benign	36881	rs7252610	GRCh37: 19:55665584-55665584 GRCh38: 19:55154216-55154216
48	DNAAF3 , TNNI3	NM_000363.5(TNNI3):c.150+13G>A	SNV	Benign	43362	rs73617692	GRCh37: 19:55667958-55667958 GRCh38: 19:55156590-55156590

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

⁷² (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	heart development	GO:0007507	9.26	TNNI3 CSRP3
2	cellular calcium ion homeostasis	GO:0006874	9.16	TNNI3 CSRP3
3	negative regulation of GTPase activity	GO:0034260	8.96	TMED2 CDC42SE1
4	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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

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

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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