Cardiomyopathy, Familial Hypertrophic, 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CMH6 MCID: CRD232 MIFTS: 37	Cardiomyopathy, Familial Hypertrophic, 6 (CMH6) Categories: Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 6

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 6:

Name: Cardiomyopathy, Familial Hypertrophic, 6 ⁵⁷ ⁷¹

Cardiomyopathy, Familial Hypertrophic 6 ¹² ⁷³ ¹³

Cmh6 ⁵⁷ ¹² ⁷³

Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome ⁷³ ⁶

Familial Hypertrophic Cardiomyopathy 6 ²⁹ ⁶

Cardiomyopathy, Hypertrophic 6 ⁵⁷ ²⁹

Hypertrophic Cardiomyopathy 6 ¹² ¹⁵

Cardiomyopathy, Hypertrophic, Familial, Type 6 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )

HPO:

³¹

cardiomyopathy, familial hypertrophic, 6:
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:0110312

OMIM® ⁵⁷ 600858

OMIM Phenotypic Series ⁵⁷ PS192600

MeSH ⁴⁴ D024741

MedGen ⁴¹ C1833236

SNOMED-CT via HPO ⁶⁸ 195060002 233873004 233917008 more

UMLS ⁷¹ C1833236

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Summaries for Cardiomyopathy, Familial Hypertrophic, 6

UniProtKB/Swiss-Prot : ⁷³ Cardiomyopathy, familial hypertrophic 6: 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. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 6, also known as cardiomyopathy, familial hypertrophic 6, is related to cardiomyopathy, familial hypertrophic, 1 and atrial standstill 1. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 6 is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2). Affiliated tissues include skeletal muscle and heart, and related phenotypes are hypertrophic cardiomyopathy and atrioventricular block

Disease Ontology : ¹² A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2).

OMIM® : ⁵⁷ Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild to severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005). (600858) (Updated 05-Mar-2021)

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Related Diseases for Cardiomyopathy, Familial Hypertrophic, 6

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

#	Related Disease	Score	Top Affiliating Genes
1	cardiomyopathy, familial hypertrophic, 1	30.1	TMOD1 PRKAG2 LMOD2
2	atrial standstill 1	10.3
3	wolff-parkinson-white syndrome	10.3
4	hypertrophic cardiomyopathy	10.3
5	congenital structural myopathy	9.8	TMOD1 LMOD2
6	congenital fiber-type disproportion	9.7	TMOD1 LMOD2
7	megacystis-microcolon-intestinal hypoperistalsis syndrome	9.7	TMOD1 LMOD2 LMOD1
8	cardiomyopathy, familial hypertrophic, 4	9.7	RNF144B DUSP11

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 6:

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Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 6

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 6:

³¹ (show all 9)

#	Description	HPO Source Accession
1	hypertrophic cardiomyopathy ³¹	HP:0001639
2	atrioventricular block ³¹	HP:0001678
3	atrial fibrillation ³¹	HP:0005110
4	wolff-parkinson-white syndrome ³¹	HP:0001716
5	ventricular preexcitation ³¹	HP:0004309
6	sinus bradycardia ³¹	HP:0001688
7	left bundle branch block ³¹	HP:0011713
8	asymmetric septal hypertrophy ³¹	HP:0001670
9	myofiber disarray ³¹	HP:0031318

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Cardiovascular Heart:
hypertrophic cardiomyopathy
atrioventricular block
atrial fibrillation
sinus bradycardia
left bundle branch block
more

Muscle Soft Tissue:
glycogenosis of skeletal muscle, mild (in some patients)

Clinical features from OMIM®:

600858 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 6

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 6

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 6

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 6:

#	Genetic test	Affiliating Genes
1	Familial Hypertrophic Cardiomyopathy 6 ²⁹	PRKAG2
2	Cardiomyopathy, Hypertrophic 6 ²⁹

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 6

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 6:

⁴⁰

Skeletal Muscle, Heart

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Publications for Cardiomyopathy, Familial Hypertrophic, 6

Articles related to Cardiomyopathy, Familial Hypertrophic, 6:

(show all 17)

#	Title	Authors	PMID	Year
1	Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation. ⁵⁷ ⁶	Kelly BP...Ensing GJ	19787389	2009
2	Shared genetic causes of cardiac hypertrophy in children and adults. ⁶ ⁵⁷	Morita H...Seidman CE	18403758	2008
3	A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis. ⁶ ⁵⁷	Laforet P...Duboc D	16487706	2006
4	Glycogen storage diseases presenting as hypertrophic cardiomyopathy. ⁶ ⁵⁷	Arad M...Seidman JG	15673802	2005
5	Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. ⁵⁷ ⁶	Arad M...Seidman CE	11827995	2002
6	Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. ⁵⁷ ⁶	Blair E...Watkins H	11371514	2001
7	Genetically transmitted ventricular pre-excitation in a family with hypertrophic cardiomyopathy. ⁵⁷ ⁶	Sinha SC...Arora R	10820940	2000
8	Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. ⁵⁷ ⁶	MacRae CA...Rowland E	7657794	1995
9	High risk of sudden death associated with a PRKAG2-related familial Wolff-Parkinson-White syndrome. ⁶	Zhang LP...Gao BR	20381067	2011
10	Clinical, electrocardiographic, and electrophysiologic characteristics of patients with a fasciculoventricular pathway: the role of PRKAG2 mutation. ⁶	Sternick EB...Wellens HJ	20888928	2011
11	Nodoventricular accessory pathways in PRKAG2-dependent familial preexcitation syndrome reveal a disorder in cardiac development. ⁶	Tan HL...Wilde AA	19808419	2008
12	Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation. ⁵⁷	Bayrak F...Erginel-Unaltuna N	16716659	2006
13	Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. ⁵⁷	Burwinkel B...Kilimann MW	15877279	2005
14	Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. ⁵⁷	Arad M...Seidman JG	12782567	2003
15	Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. ⁶	Gollob MH...Hassan AS	11407343	2001
16	Electrophysiologic characteristics of accessory atrioventricular connections in an inherited form of Wolff-Parkinson-White syndrome. ⁶	Mehdirad AA...Benson DW	10355918	1999
17	Leiomodins: larger members of the tropomodulin (Tmod) gene family. ⁶¹	Conley CA...Fowler VM	11318603	2001

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Genes for Cardiomyopathy, Familial Hypertrophic, 6

Genes related to Cardiomyopathy, Familial Hypertrophic, 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PRKAG2	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2	Protein Coding	1321.64	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	11371514
2	LMOD2	Leiomodin 2	Protein Coding	8.23	DISEASES inferred ¹⁵
3	TMOD1	Tropomodulin 1	Protein Coding	7.66	DISEASES inferred ¹⁵
4	LMOD1	Leiomodin 1	Protein Coding	6.64	DISEASES inferred ¹⁵
5	RCSD1	RCSD Domain Containing 1	Protein Coding	5.63	DISEASES inferred ¹⁵
6	RNF144B	Ring Finger Protein 144B	Protein Coding	5.42	DISEASES inferred ¹⁵
7	DUSP11	Dual Specificity Phosphatase 11	Protein Coding	5.39	DISEASES inferred ¹⁵

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Variations for Cardiomyopathy, Familial Hypertrophic, 6

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 6:

⁶ (show top 50) (show all 165)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PRKAG2	NM_016203.4(PRKAG2):c.1050_1051insTTA (p.Glu351_Leu352insLeu)	Insertion	Pathogenic	6848	rs587776643	7:151269750-151269751	7:151572664-151572665
2	PRKAG2	NM_016203.4(PRKAG2):c.1463A>T (p.Asn488Ile)	SNV	Pathogenic	6850	rs121908989	7:151261285-151261285	7:151564199-151564199
3	PRKAG2	NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro)	SNV	Pathogenic	6856	rs267606979	7:151257646-151257646	7:151560560-151560560
4	PRKAG2	NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg)	SNV	Pathogenic	6847	rs121908988	7:151265887-151265887	7:151568801-151568801
5	PRKAG2	NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)	SNV	Pathogenic	6846	rs121908987	7:151273498-151273498	7:151576412-151576412
6	PRKAG2	NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn)	SNV	Pathogenic	6849	rs28938173	7:151265836-151265836	7:151568750-151568750
7	PRKAG2	NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His)	SNV	Pathogenic	6853	rs267606976	7:151261289-151261289	7:151564203-151564203
8	PRKAG2	NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg)	SNV	Pathogenic	6854	rs267606977	7:151257699-151257699	7:151560613-151560613
9	PRKAG2	NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln)	SNV	Pathogenic	6855	rs267606978	7:151261232-151261232	7:151564146-151564146
10	PRKAG2	NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys)	SNV	Uncertain significance	45729	rs397517277	7:151372570-151372570	7:151675484-151675484
11	PRKAG2	NM_016203.3(PRKAG2):c.-520C>T	SNV	Uncertain significance	359364	rs73160072	7:151574225-151574225	7:151877140-151877140
12	PRKAG2	NM_016203.3(PRKAG2):c.-517G>T	SNV	Uncertain significance	359363	rs886062107	7:151574222-151574222	7:151877137-151877137
13	PRKAG2	NM_016203.3(PRKAG2):c.-575C>T	SNV	Uncertain significance	359366	rs886062108	7:151574280-151574280	7:151877195-151877195
14	PRKAG2	NM_016203.3(PRKAG2):c.-580C>T	SNV	Uncertain significance	359367	rs886062109	7:151574285-151574285	7:151877200-151877200
15	PRKAG2	NM_016203.4(PRKAG2):c.240C>A (p.Gly80=)	SNV	Uncertain significance	45710	rs142482217	7:151478464-151478464	7:151781378-151781378
16	TNNI3	NM_000363.5(TNNI3):c.550-11C>T	SNV	Uncertain significance	330198	rs886054635	19:55663296-55663296	19:55151928-55151928
17	PRKAG2	NM_016203.4(PRKAG2):c.1454A>C (p.Lys485Thr)	SNV	Uncertain significance	438860	rs1554453641	7:151261294-151261294	7:151564208-151564208
18	PRKAG2	NM_016203.4(PRKAG2):c.278T>C (p.Val93Ala)	SNV	Uncertain significance	908128		7:151478426-151478426	7:151781340-151781340
19	PRKAG2	NM_016203.4(PRKAG2):c.*771C>T	SNV	Uncertain significance	909038		7:151253516-151253516	7:151556430-151556430
20	PRKAG2	NM_016203.4(PRKAG2):c.*471T>C	SNV	Uncertain significance	909898		7:151253816-151253816	7:151556730-151556730
21	PRKAG2-AS1	NM_016203.4(PRKAG2):c.-481G>A	SNV	Uncertain significance	910143		7:151574186-151574186	7:151877101-151877101
22	PRKAG2	NM_016203.4(PRKAG2):c.*1043G>A	SNV	Uncertain significance	910745		7:151253244-151253244	7:151556158-151556158
23	PRKAG2	NM_016203.4(PRKAG2):c.*1030T>G	SNV	Uncertain significance	910746		7:151253257-151253257	7:151556171-151556171
24	PRKAG2	NM_016203.4(PRKAG2):c.*1021T>G	SNV	Uncertain significance	910747		7:151253266-151253266	7:151556180-151556180
25	PRKAG2	NM_016203.4(PRKAG2):c.*450T>C	SNV	Uncertain significance	910801		7:151253837-151253837	7:151556751-151556751
26	PRKAG2	NM_016203.4(PRKAG2):c.*419C>T	SNV	Uncertain significance	910802		7:151253868-151253868	7:151556782-151556782
27	PRKAG2	NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln)	SNV	Uncertain significance	910975		7:151483623-151483623	7:151786537-151786537
28	PRKAG2	NM_016203.4(PRKAG2):c.*953T>A	SNV	Uncertain significance	911968		7:151253334-151253334	7:151556248-151556248
29	PRKAG2	NM_016203.4(PRKAG2):c.*398C>T	SNV	Uncertain significance	910804		7:151253889-151253889	7:151556803-151556803
30	PRKAG2	NM_016203.4(PRKAG2):c.*256T>G	SNV	Uncertain significance	912012		7:151254031-151254031	7:151556945-151556945
31	PRKAG2	NM_016203.4(PRKAG2):c.*156A>G	SNV	Uncertain significance	909098		7:151254131-151254131	7:151557045-151557045
32	PRKAG2	NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn)	SNV	Uncertain significance	912070		7:151262881-151262881	7:151565795-151565795
33	PRKAG2	NM_016203.4(PRKAG2):c.90G>T (p.Arg30Ser)	SNV	Uncertain significance	912206		7:151573616-151573616	7:151876531-151876531
34	PRKAG2	NM_016203.4(PRKAG2):c.*887G>A	SNV	Uncertain significance	359330	rs886062096	7:151253400-151253400	7:151556314-151556314
35	PRKAG2	NM_016203.4(PRKAG2):c.787C>A (p.Arg263=)	SNV	Uncertain significance	359344	rs886062100	7:151292508-151292508	7:151595422-151595422
36	PRKAG2	NM_016203.4(PRKAG2):c.*1040dup	Duplication	Uncertain significance	359322	rs56898021	7:151253246-151253247	7:151556160-151556161
37	PRKAG2	NM_016203.4(PRKAG2):c.-249G>C	SNV	Uncertain significance	359355	rs534059998	7:151573954-151573954	7:151876869-151876869
38	PRKAG2	NM_016203.4(PRKAG2):c.*1029dup	Duplication	Uncertain significance	359324	rs1554444891	7:151253257-151253258	7:151556171-151556172
39	PRKAG2	NM_016203.4(PRKAG2):c.*365G>A	SNV	Uncertain significance	359338	rs886062098	7:151253922-151253922	7:151556836-151556836
40	PRKAG2	NM_016203.4(PRKAG2):c.-397G>C	SNV	Uncertain significance	359362	rs886062106	7:151574102-151574102	7:151877017-151877017
41	PRKAG2	NM_016203.4(PRKAG2):c.-252C>T	SNV	Uncertain significance	359356	rs546312513	7:151573957-151573957	7:151876872-151876872
42	PRKAG2	NM_016203.4(PRKAG2):c.1021_1022delinsGT	Indel	Uncertain significance	359325	rs886062094	7:151253265-151253266	7:151556179-151556180
43	PRKAG2	NM_016203.4(PRKAG2):c.*1040del	Deletion	Uncertain significance	359323	rs56898021	7:151253247-151253247	7:151556161-151556161
44	PRKAG2	NM_016203.4(PRKAG2):c.*1012T>G	SNV	Uncertain significance	359327	rs886062095	7:151253275-151253275	7:151556189-151556189
45	PRKAG2	NM_016203.4(PRKAG2):c.-40C>T	SNV	Uncertain significance	359353	rs148715621	7:151573745-151573745	7:151876660-151876660
46	PRKAG2	NM_016203.4(PRKAG2):c.-262C>T	SNV	Uncertain significance	359357	rs886062103	7:151573967-151573967	7:151876882-151876882
47	PRKAG2	NM_016203.4(PRKAG2):c.*964G>A	SNV	Uncertain significance	359328	rs75512992	7:151253323-151253323	7:151556237-151556237
48	PRKAG2	NM_016203.4(PRKAG2):c.*1041dup	Duplication	Uncertain significance	359321	rs886062093	7:151253245-151253246	7:151556159-151556160
49	PRKAG2	NM_016203.4(PRKAG2):c.-16A>G	SNV	Uncertain significance	359352	rs200468798	7:151573721-151573721	7:151876636-151876636
50	PRKAG2	NM_016203.4(PRKAG2):c.*612G>A	SNV	Uncertain significance	359333	rs371404960	7:151253675-151253675	7:151556589-151556589

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 6:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	PRKAG2	p.Arg302Gln	VAR_013264	rs121908987
2	PRKAG2	p.His383Arg	VAR_013266	rs121908988
3	PRKAG2	p.Thr400Asn	VAR_013267	rs28938173
4	PRKAG2	p.Asn488Ile	VAR_013268	rs121908989

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Expression for Cardiomyopathy, Familial Hypertrophic, 6

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 6.

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Pathways for Cardiomyopathy, Familial Hypertrophic, 6

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GO Terms for Cardiomyopathy, Familial Hypertrophic, 6

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	sarcomere	GO:0030017	9.43	TMOD1 LMOD2 LMOD1
2	myofibril	GO:0030016	9.33	TMOD1 LMOD2 LMOD1
3	actin filament	GO:0005884	9.26	TMOD1 RCSD1 LMOD2 LMOD1
4	striated muscle thin filament	GO:0005865	8.8	TMOD1 LMOD2 LMOD1

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	actin filament organization	GO:0007015	9.5	TMOD1 LMOD2 LMOD1
2	positive regulation of actin filament polymerization	GO:0030838	9.37	LMOD2 LMOD1
3	muscle contraction	GO:0006936	9.33	TMOD1 LMOD2 LMOD1
4	actin nucleation	GO:0045010	9.26	LMOD2 LMOD1
5	myofibril assembly	GO:0030239	9.13	TMOD1 LMOD2 LMOD1
6	pointed-end actin filament capping	GO:0051694	8.8	TMOD1 LMOD2 LMOD1

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	actin binding	GO:0003779	9.13	TMOD1 LMOD2 LMOD1
2	tropomyosin binding	GO:0005523	8.8	TMOD1 LMOD2 LMOD1

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Sources for Cardiomyopathy, Familial Hypertrophic, 6

¹ BioSystems

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⁴ Cell Signaling Technology

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²⁴ GeneHancer via GeneCards

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²⁷ GEO DataSets

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³² ICD10

³³ ICD10 via Orphanet

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³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-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 TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Cardiomyopathy, Familial Hypertrophic, 6 (CMH6)

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 6

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 6:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Cardiomyopathy, Familial Hypertrophic, 6

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 6

Diseases in the Hypertrophic Cardiomyopathy family:

Diseases related to Cardiomyopathy, Familial Hypertrophic, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 6:

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 6

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 6:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 6

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 6

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 6:

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 6

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 6:

Publications for Cardiomyopathy, Familial Hypertrophic, 6

Articles related to Cardiomyopathy, Familial Hypertrophic, 6:

Genes for Cardiomyopathy, Familial Hypertrophic, 6

Genes related to Cardiomyopathy, Familial Hypertrophic, 6 (1 elite genes):

Variations for Cardiomyopathy, Familial Hypertrophic, 6

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 6:

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 6:

Expression for Cardiomyopathy, Familial Hypertrophic, 6

Pathways for Cardiomyopathy, Familial Hypertrophic, 6

GO Terms for Cardiomyopathy, Familial Hypertrophic, 6

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

Sources for Cardiomyopathy, Familial Hypertrophic, 6