CMH6
MCID: CRD232
MIFTS: 39

Cardiomyopathy, Familial Hypertrophic, 6 (CMH6)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 6

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 6:

Name: Cardiomyopathy, Familial Hypertrophic, 6 56 71
Cardiomyopathy, Familial Hypertrophic 6 12 73 13
Cmh6 56 12 73
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 73 6
Familial Hypertrophic Cardiomyopathy 6 29 6
Cardiomyopathy, Hypertrophic 6 56 29
Hypertrophic Cardiomyopathy 6 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 6 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )


HPO:

31
cardiomyopathy, familial hypertrophic, 6:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110312
OMIM 56 600858
OMIM Phenotypic Series 56 PS192600
MeSH 43 D024741
MedGen 41 C1833236
UMLS 71 C1833236

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 atrial standstill 1 and cardiomyopathy, familial hypertrophic, 1. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 6 is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2). Affiliated tissues include heart, skeletal muscle and testes, 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 : 56 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)

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 atrial standstill 1 10.5
2 cardiomyopathy, familial hypertrophic, 1 10.5
3 wolff-parkinson-white syndrome 10.5
4 hypertrophic cardiomyopathy 10.5
5 congenital structural myopathy 9.8 TMOD1 LMOD2
6 megacystis-microcolon-intestinal hypoperistalsis syndrome 9.7 TMOD1 LMOD2 LMOD1
7 west nile fever 9.5 DEFB105B DEFB105A
8 cardiomyopathy, familial hypertrophic, 12 9.4 DEFB105B DEFB105A
9 osteopetrosis, autosomal recessive 2 9.4 DEFB105B DEFB105A
10 congenital bile acid synthesis defect 9.2 DEFB105B DEFB105A

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



Diseases related to Cardiomyopathy, Familial Hypertrophic, 6

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 6

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 6:

31 (show all 9)
# Description HPO Frequency 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:

56
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

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 6

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

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

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 6

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

40
Heart, Skeletal Muscle, Testes

Publications for Cardiomyopathy, Familial Hypertrophic, 6

Articles related to Cardiomyopathy, Familial Hypertrophic, 6:

(show all 35)
# 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. 56 6
19787389 2009
2
Shared genetic causes of cardiac hypertrophy in children and adults. 56 6
18403758 2008
3
A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis. 6 56
16487706 2006
4
Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 6 56
15673802 2005
5
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. 56 6
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. 56 6
11371514 2001
7
Genetically transmitted ventricular pre-excitation in a family with hypertrophic cardiomyopathy. 56 6
10820940 2000
8
Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. 6 56
7657794 1995
9
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
27854360 2017
10
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
11
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
25173338 2014
12
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
13
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 6
22241583 2012
14
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
21810866 2011
15
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 6
21267010 2011
16
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 6
19808356 2009
17
Hypertrophic Cardiomyopathy Overview 6
20301725 2008
18
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
19
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 6
18258667 2008
20
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 6
17611253 2007
21
Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation. 56
16716659 2006
22
Gene mutations in apical hypertrophic cardiomyopathy. 6
16267253 2005
23
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. 56
15877279 2005
24
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
25
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 6
14672715 2004
26
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
14607462 2003
27
Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. 56
12782567 2003
28
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 6
12767666 2003
29
A gene responsible for familial Wolff-Parkinson-White syndrome. 6
11586962 2001
30
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
31
Electrophysiologic characteristics of accessory atrioventricular connections in an inherited form of Wolff-Parkinson-White syndrome. 6
10355918 1999
32
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 6
8889580 1996
33
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 6
8079988 1994
34
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 6
7459150 1980
35
Leiomodins: larger members of the tropomodulin (Tmod) gene family. 61
11318603 2001

Variations for Cardiomyopathy, Familial Hypertrophic, 6

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

6 (show top 50) (show all 164) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRKAG2 NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)SNV Pathogenic 6846 rs121908987 7:151273498-151273498 7:151576412-151576412
2 PRKAG2 NM_016203.4(PRKAG2):c.1050_1051insTTA (p.Glu351_Leu352insLeu)insertion Pathogenic 6848 rs587776643 7:151269750-151269751 7:151572664-151572665
3 PRKAG2 NM_016203.4(PRKAG2):c.1463A>T (p.Asn488Ile)SNV Pathogenic 6850 rs121908989 7:151261285-151261285 7:151564199-151564199
4 PRKAG2 NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg)SNV Pathogenic 6854 rs267606977 7:151257699-151257699 7:151560613-151560613
5 PRKAG2 NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln)SNV Likely pathogenic 6855 rs267606978 7:151261232-151261232 7:151564146-151564146
6 PRKAG2 NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn)SNV Likely pathogenic 6849 rs28938173 7:151265836-151265836 7:151568750-151568750
7 PRKAG2 NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His)SNV Conflicting interpretations of pathogenicity 6853 rs267606976 7:151261289-151261289 7:151564203-151564203
8 PRKAG2 NM_016203.4(PRKAG2):c.947-7G>ASNV Conflicting interpretations of pathogenicity 465344 rs1554464198 7:151272042-151272042 7:151574956-151574956
9 PRKAG2 NM_016203.4(PRKAG2):c.88A>C (p.Arg30=)SNV Conflicting interpretations of pathogenicity 465343 rs756923555 7:151573618-151573618 7:151876533-151876533
10 PRKAG2 NM_016203.4(PRKAG2):c.432C>T (p.Pro144=)SNV Conflicting interpretations of pathogenicity 520278 rs764742900 7:151478272-151478272 7:151781186-151781186
11 PRKAG2 NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)SNV Conflicting interpretations of pathogenicity 36696 rs148197254 7:151257695-151257695 7:151560609-151560609
12 PRKAG2 NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)SNV Conflicting interpretations of pathogenicity 36697 rs79474211 7:151478406-151478406 7:151781320-151781320
13 DNAAF3 , TNNI3 , TNNT1 NM_000363.5(TNNI3):c.373-10=SNV Conflicting interpretations of pathogenicity 36881 rs7252610 19:55665584-55665584 19:55154216-55154216
14 TNNI3 NM_000363.5(TNNI3):c.12-7deldeletion Conflicting interpretations of pathogenicity 43361 rs370714315 19:55668683-55668683 19:55157315-55157315
15 PRKAG2 NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)SNV Conflicting interpretations of pathogenicity 45738 rs145029525 7:151273491-151273491 7:151576405-151576405
16 TNNI3 NM_000363.5(TNNI3):c.151-6C>GSNV Conflicting interpretations of pathogenicity 43363 rs377258542 19:55667706-55667706 19:55156338-55156338
17 TNNI3 NM_000363.5(TNNI3):c.273G>A (p.Ala91=)SNV Conflicting interpretations of pathogenicity 43372 rs75491697 19:55667578-55667578 19:55156210-55156210
18 TNNI3 NM_000363.5(TNNI3):c.373-15C>GSNV Conflicting interpretations of pathogenicity 43377 rs192630178 19:55665589-55665589 19:55154221-55154221
19 TNNI3 NM_000363.5(TNNI3):c.373-4C>GSNV Conflicting interpretations of pathogenicity 43378 rs2288530 19:55665578-55665578 19:55154210-55154210
20 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.537G>A (p.Glu179=)SNV Conflicting interpretations of pathogenicity 43391 rs3729841 19:55665410-55665410 19:55154042-55154042
21 PRKAG2 NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)SNV Conflicting interpretations of pathogenicity 45686 rs116541276 7:151267265-151267265 7:151570179-151570179
22 PRKAG2 NM_016203.4(PRKAG2):c.1106+9G>CSNV Conflicting interpretations of pathogenicity 45687 rs200429988 7:151267248-151267248 7:151570162-151570162
23 PRKAG2 NM_016203.4(PRKAG2):c.111T>A (p.Ile37=)SNV Conflicting interpretations of pathogenicity 45688 rs144426409 7:151573595-151573595 7:151876510-151876510
24 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.204G>T (p.Arg68=)SNV Conflicting interpretations of pathogenicity 43366 rs3729711 19:55667647-55667647 19:55156279-55156279
25 TNNI3 NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)SNV Conflicting interpretations of pathogenicity 43367 rs3729712 19:55667616-55667616 19:55156248-55156248
26 PRKAG2 NM_016203.4(PRKAG2):c.123C>T (p.Ser41=)SNV Conflicting interpretations of pathogenicity 45692 rs397517263 7:151483619-151483619 7:151786533-151786533
27 PRKAG2 NM_016203.4(PRKAG2):c.1584+7C>TSNV Conflicting interpretations of pathogenicity 45699 rs111627309 7:151261157-151261157 7:151564071-151564071
28 PRKAG2 NM_016203.4(PRKAG2):c.240C>A (p.Gly80=)SNV Conflicting interpretations of pathogenicity 45710 rs142482217 7:151478464-151478464 7:151781378-151781378
29 PRKAG2 NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser)SNV Conflicting interpretations of pathogenicity 45711 rs148791216 7:151478457-151478457 7:151781371-151781371
30 PRKAG2 NM_016203.4(PRKAG2):c.312C>T (p.Thr104=)SNV Conflicting interpretations of pathogenicity 45713 rs397517268 7:151478392-151478392 7:151781306-151781306
31 PRKAG2 NM_016203.4(PRKAG2):c.471C>T (p.Ser157=)SNV Conflicting interpretations of pathogenicity 45721 rs141804012 7:151372719-151372719 7:151675633-151675633
32 PRKAG2 NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)SNV Conflicting interpretations of pathogenicity 45733 rs201240745 7:151329211-151329211 7:151632125-151632125
33 PRKAG2 NM_016203.4(PRKAG2):c.*2C>TSNV Conflicting interpretations of pathogenicity 177987 rs199559205 7:151254285-151254285 7:151557199-151557199
34 TNNI3 NM_000363.5(TNNI3):c.372+7C>TSNV Conflicting interpretations of pathogenicity 165519 rs367809676 19:55666102-55666102 19:55154734-55154734
35 PRKAG2 NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)SNV Conflicting interpretations of pathogenicity 181465 rs730880970 7:151478502-151478502 7:151781416-151781416
36 TNNI3 NM_000363.5(TNNI3):c.*35C>TSNV Conflicting interpretations of pathogenicity 188677 rs375447438 19:55663167-55663167 19:55151799-55151799
37 TNNI3 NM_000363.5(TNNI3):c.-47C>TSNV Conflicting interpretations of pathogenicity 188667 rs202159627 19:55669004-55669004 19:55157636-55157636
38 TNNI3 NM_000363.5(TNNI3):c.-98C>ASNV Conflicting interpretations of pathogenicity 188666 rs12973773 19:55669055-55669055 19:55157687-55157687
39 TNNI3 NM_000363.5(TNNI3):c.139T>C (p.Leu47=)SNV Conflicting interpretations of pathogenicity 137685 rs587780967 19:55667982-55667982 19:55156614-55156614
40 PRKAG2 NM_016203.4(PRKAG2):c.981A>G (p.Leu327=)SNV Conflicting interpretations of pathogenicity 227880 rs764162597 7:151272001-151272001 7:151574915-151574915
41 DNAAF3 , TNNI3 NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)SNV Conflicting interpretations of pathogenicity 257685 rs111250144 19:55670808-55670808 19:55159440-55159440
42 PRKAG2 NM_016203.4(PRKAG2):c.186+7C>TSNV Conflicting interpretations of pathogenicity 359350 rs886062102 7:151483549-151483549 7:151786463-151786463
43 PRKAG2 NM_016203.4(PRKAG2):c.*135T>CSNV Conflicting interpretations of pathogenicity 359340 rs184932311 7:151254152-151254152 7:151557066-151557066
44 PRKAG2 NM_016203.4(PRKAG2):c.429G>A (p.Ser143=)SNV Conflicting interpretations of pathogenicity 359346 rs757727533 7:151478275-151478275 7:151781189-151781189
45 PRKAG2 NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu)SNV Conflicting interpretations of pathogenicity 359348 rs757900380 7:151478456-151478456 7:151781370-151781370
46 PRKAG2 NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)SNV Conflicting interpretations of pathogenicity 359351 rs767613486 7:151483604-151483604 7:151786518-151786518
47 PRKAG2 NM_016203.4(PRKAG2):c.*572G>ASNV Conflicting interpretations of pathogenicity 359334 rs78192883 7:151253715-151253715 7:151556629-151556629
48 PRKAG2 NM_016203.3(PRKAG2):c.-520C>TSNV Conflicting interpretations of pathogenicity 359364 rs73160072 7:151574225-151574225 7:151877140-151877140
49 PRKAG2 NM_016203.4(PRKAG2):c.-16A>GSNV Conflicting interpretations of pathogenicity 359352 rs200468798 7:151573721-151573721 7:151876636-151876636
50 PRKAG2 NM_016203.4(PRKAG2):c.-287C>GSNV Conflicting interpretations of pathogenicity 359359 rs75059373 7:151573992-151573992 7:151876907-151876907

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

Expression for Cardiomyopathy, Familial Hypertrophic, 6

Search GEO for disease gene expression data 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:

# 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

Sources for Cardiomyopathy, Familial Hypertrophic, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....