CMH4
MCID: CRD085
MIFTS: 39

Cardiomyopathy, Familial Hypertrophic, 4 (CMH4)

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

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 4

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 4:

Name: Cardiomyopathy, Familial Hypertrophic, 4 58 12 13 74
Cmh4 58 12 76
Familial Hypertrophic Cardiomyopathy 4 30 6
Hypertrophic Cardiomyopathy 4 12 15
Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility to 6
Cardiomyopathy, Hypertrophic, Familial, Type 4 41
Cardiomyopathy, Familial Hypertrophic 4 76
Cardiomyopathy, Hypertrophic, 4 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant (11p13-q13)
other forms at loci on chromosomes 1, 14, 15 and at least one other locus


HPO:

33
cardiomyopathy, familial hypertrophic, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110310
OMIM 58 115197
MeSH 45 D024741
SNOMED-CT via HPO 70 233873004 263681008 45227007
UMLS 74 C1861862

Summaries for Cardiomyopathy, Familial Hypertrophic, 4

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, familial hypertrophic 4: 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, 4, also known as cmh4, is related to hypertrophic cardiomyopathy and cardiomyopathy, familial hypertrophic, 1. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 4 is MYBPC3 (Myosin Binding Protein C, Cardiac), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include heart and testes, and related phenotypes are hypertrophic cardiomyopathy and Reduced mammosphere formation

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.

Description from OMIM: 115197

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 4

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

Diseases related to Cardiomyopathy, Familial Hypertrophic, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertrophic cardiomyopathy 29.8 BRAF MYBPC3 TTN
2 cardiomyopathy, familial hypertrophic, 1 29.7 MYBPC1 MYBPC3 TTN
3 familial isolated dilated cardiomyopathy 10.0 MYBPC3 TTN
4 newborn respiratory distress syndrome 10.0 BRAF TTN
5 intrinsic cardiomyopathy 9.9 MYBPC3 TTN
6 campomelic dysplasia 9.9 MYBPC3 TTN
7 restrictive cardiomyopathy 9.9 MYBPC3 TTN
8 left ventricular noncompaction 9.7 MYBPC3 TTN
9 atrial standstill 1 9.7 MYBPC1 MYBPC3 TTN
10 dilated cardiomyopathy 9.6 MYBPC1 MYBPC3 TTN

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 4:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 4

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 4

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 4:

33
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 33 HP:0001639

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
hypertrophic cardiomyopathy

Clinical features from OMIM:

115197

GenomeRNAi Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 4 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.92 BRAF MYBPC1 MYBPC3 NCF1

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 4:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 BRAF MYBPC3 NCF1 TTN

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 4

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 4

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 4

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 4:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 4 30 MYBPC3

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 4

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 4:

42
Heart, Testes

Publications for Cardiomyopathy, Familial Hypertrophic, 4

Articles related to Cardiomyopathy, Familial Hypertrophic, 4:

(show all 31)
# Title Authors Year
1
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. ( 27854360 )
2017
2
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life. ( 25740977 )
2015
3
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
4
Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy. ( 23840593 )
2013
5
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
6
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
7
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. ( 21551322 )
2011
8
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. ( 20215591 )
2010
9
Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C. ( 19858127 )
2010
10
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. ( 19151713 )
2009
11
Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations. ( 18337725 )
2008
12
Shared genetic causes of cardiac hypertrophy in children and adults. ( 18403758 )
2008
13
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. ( 17655857 )
2007
14
Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy. ( 17937428 )
2007
15
Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. ( 16679492 )
2006
16
Gene mutations in adult Japanese patients with dilated cardiomyopathy. ( 15671604 )
2005
17
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. ( 16199542 )
2005
18
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. ( 15519027 )
2004
19
Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy. ( 12788380 )
2003
20
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients. ( 12628722 )
2003
21
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. ( 12818575 )
2003
22
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. ( 11815426 )
2002
23
A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance. ( 10736283 )
2000
24
Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy. ( 10424815 )
1999
25
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. ( 9562578 )
1998
26
Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. ( 9048664 )
1997
27
Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein. ( 9218526 )
1997
28
The COX8 gene is not the disease gene of the CMH4 locus in familial hypertrophic cardiomyopathy. ( 7473670 )
1995
29
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. ( 7493025 )
1995
30
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. ( 7493026 )
1995
31
[Demonstration of a fifth locus implicated in familial hypertrophic cardiomyopathies]. ( 7786104 )
1994

Variations for Cardiomyopathy, Familial Hypertrophic, 4

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 4:

76 (show top 50) (show all 65)
# Symbol AA change Variation ID SNP ID
1 MYBPC3 p.Glu542Gln VAR_003917 rs121909374
2 MYBPC3 p.Arg654His VAR_003918 rs1800565
3 MYBPC3 p.Asn755Lys VAR_003919 rs106050147
4 MYBPC3 p.His257Pro VAR_019889 rs890299857
5 MYBPC3 p.Glu258Lys VAR_019890 rs397516074
6 MYBPC3 p.Gly278Glu VAR_019891 rs147315081
7 MYBPC3 p.Gly279Ala VAR_019892 rs375774648
8 MYBPC3 p.Leu352Pro VAR_019894 rs146089580
9 MYBPC3 p.Arg502Trp VAR_019895 rs375882485
10 MYBPC3 p.Lys811Arg VAR_019897 rs133870726
11 MYBPC3 p.Ala833Val VAR_019898 rs3729952
12 MYBPC3 p.Ala1194Thr VAR_019900 rs397516026
13 MYBPC3 p.Ala1255Thr VAR_019901 rs727503167
14 MYBPC3 p.Gln998Glu VAR_020574 rs11570112
15 MYBPC3 p.Glu451Gln VAR_027879
16 MYBPC3 p.Arg495Gln VAR_027880 rs200411226
17 MYBPC3 p.Arg502Gln VAR_027881 rs397515907
18 MYBPC3 p.Gly5Arg VAR_029390 rs201278114
19 MYBPC3 p.Thr59Ala VAR_029391 rs121909375
20 MYBPC3 p.Pro161Ser VAR_029392 rs397516053
21 MYBPC3 p.Val219Leu VAR_029393 rs397516068
22 MYBPC3 p.Asp228Asn VAR_029394 rs369300885
23 MYBPC3 p.Tyr237Ser VAR_029395 rs397516070
24 MYBPC3 p.Val256Ile VAR_029396 rs144408777
25 MYBPC3 p.Arg282Trp VAR_029397 rs727504234
26 MYBPC3 p.Arg458His VAR_029399 rs374255707
27 MYBPC3 p.Gly490Arg VAR_029400 rs200625851
28 MYBPC3 p.Gly507Arg VAR_029401 rs35736435
29 MYBPC3 p.Gly523Trp VAR_029402 rs116860484
30 MYBPC3 p.Cys566Arg VAR_029404 rs730880695
31 MYBPC3 p.Asp604Val VAR_029405 rs117214559
32 MYBPC3 p.Pro608Leu VAR_029407 rs778623429
33 MYBPC3 p.Arg668His VAR_029408 rs727503191
34 MYBPC3 p.Arg668Pro VAR_029409 rs727503191
35 MYBPC3 p.Asp770Asn VAR_029411 rs36211723
36 MYBPC3 p.Trp792Arg VAR_029412 rs187830361
37 MYBPC3 p.Arg810His VAR_029413 rs375675796
38 MYBPC3 p.Arg820Gln VAR_029416 rs2856655
39 MYBPC3 p.Ala833Thr VAR_029417 rs199865688
40 MYBPC3 p.Arg834Thr VAR_029418
41 MYBPC3 p.Pro873His VAR_029420 rs371401403
42 MYBPC3 p.Asn948Thr VAR_029421 rs121909376
43 MYBPC3 p.Gln998Arg VAR_029422 rs727503177
44 MYBPC3 p.Arg1002Gln VAR_029423 rs727504235
45 MYBPC3 p.Pro1003Gln VAR_029425
46 MYBPC3 p.Phe1113Ile VAR_029426 rs139355911
47 MYBPC3 p.Val1115Ile VAR_029427 rs531189495
48 MYBPC3 p.Gly263Arg VAR_042740 rs373730381
49 MYBPC3 p.Ala417Ser VAR_042742
50 MYBPC3 p.Leu669His VAR_042743

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 4:

6 (show top 50) (show all 342)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCAP NM_003673.3(TCAP): c.260G> A (p.Arg87Gln) single nucleotide variant Uncertain significance rs121434298 GRCh37 Chromosome 17, 37822118: 37822118
2 TCAP NM_003673.3(TCAP): c.260G> A (p.Arg87Gln) single nucleotide variant Uncertain significance rs121434298 GRCh38 Chromosome 17, 39665865: 39665865
3 MYBPC3 NM_000256.3(MYBPC3): c.3330+5G> A single nucleotide variant Pathogenic rs373746463 GRCh37 Chromosome 11, 47354740: 47354740
4 MYBPC3 NM_000256.3(MYBPC3): c.3330+5G> A single nucleotide variant Pathogenic rs373746463 GRCh38 Chromosome 11, 47333189: 47333189
5 MYBPC3 NM_000256.3(MYBPC3) duplication Pathogenic/Likely pathogenic rs193922384 GRCh38 Chromosome 11, 47332127: 47332144
6 MYBPC3 NM_000256.3(MYBPC3) duplication Pathogenic/Likely pathogenic rs193922384 GRCh37 Chromosome 11, 47353678: 47353695
7 MYBPC3 NM_000256.3(MYBPC3): c.3373G> A (p.Val1125Met) single nucleotide variant Uncertain significance rs121909378 GRCh37 Chromosome 11, 47354482: 47354482
8 MYBPC3 NM_000256.3(MYBPC3): c.3373G> A (p.Val1125Met) single nucleotide variant Uncertain significance rs121909378 GRCh38 Chromosome 11, 47332931: 47332931
9 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh37 Chromosome 11, 47364129: 47364129
10 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh38 Chromosome 11, 47342578: 47342578
11 MYBPC3 NM_000256.3(MYBPC3): c.2309-26A> G single nucleotide variant Pathogenic rs886041030 GRCh37 Chromosome 11, 47359371: 47359371
12 MYBPC3 NM_000256.3(MYBPC3): c.2309-26A> G single nucleotide variant Pathogenic rs886041030 GRCh38 Chromosome 11, 47337820: 47337820
13 MYBPC3 NM_000256.3(MYBPC3): c.3659_3662delACCTinsTTCAAGAATGGC (p.Asp1220Valfs) indel Pathogenic rs886041031 GRCh37 Chromosome 11, 47353775: 47353778
14 MYBPC3 NM_000256.3(MYBPC3): c.3659_3662delACCTinsTTCAAGAATGGC (p.Asp1220Valfs) indel Pathogenic rs886041031 GRCh38 Chromosome 11, 47332224: 47332227
15 MYBPC3 NM_000256.3(MYBPC3): c.175A> G (p.Thr59Ala) single nucleotide variant Pathogenic rs121909375 GRCh37 Chromosome 11, 47372907: 47372907
16 MYBPC3 NM_000256.3(MYBPC3): c.175A> G (p.Thr59Ala) single nucleotide variant Pathogenic rs121909375 GRCh38 Chromosome 11, 47351356: 47351356
17 MYBPC3 NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909377 GRCh37 Chromosome 11, 47354789: 47354789
18 MYBPC3 NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909377 GRCh38 Chromosome 11, 47333238: 47333238
19 MYBPC3 NM_000256.3(MYBPC3): c.2459G> A (p.Arg820Gln) single nucleotide variant Pathogenic/Likely pathogenic rs2856655 GRCh37 Chromosome 11, 47359085: 47359085
20 MYBPC3 NM_000256.3(MYBPC3): c.2459G> A (p.Arg820Gln) single nucleotide variant Pathogenic/Likely pathogenic rs2856655 GRCh38 Chromosome 11, 47337534: 47337534
21 MYBPC3 NM_000256.3(MYBPC3): c.906-1G> C single nucleotide variant Pathogenic rs587776700 GRCh38 Chromosome 11, 47347030: 47347030
22 MYBPC3 NM_000256.3(MYBPC3): c.906-1G> C single nucleotide variant Pathogenic rs587776700 GRCh37 Chromosome 11, 47368581: 47368581
23 MYBPC3 NM_000256.3(MYBPC3): c.3628-34_3628-10del deletion risk factor rs397514444 GRCh37 Chromosome 11, 47353819: 47353843
24 MYBPC3 NM_000256.3(MYBPC3): c.3628-34_3628-10del deletion risk factor rs397514444 GRCh38 Chromosome 11, 47332268: 47332292
25 MYBPC3 NM_000256.3(MYBPC3): c.3330+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs387906397 GRCh37 Chromosome 11, 47354743: 47354743
26 MYBPC3 NM_000256.3(MYBPC3): c.3330+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs387906397 GRCh38 Chromosome 11, 47333192: 47333192
27 MYBPC3 NM_000256.3(MYBPC3): c.2234A> G (p.Asp745Gly) single nucleotide variant Uncertain significance rs727503190 GRCh37 Chromosome 11, 47360145: 47360145
28 MYBPC3 NM_000256.3(MYBPC3): c.2234A> G (p.Asp745Gly) single nucleotide variant Uncertain significance rs727503190 GRCh38 Chromosome 11, 47338594: 47338594
29 MYBPC3 NM_000256.3(MYBPC3): c.2618C> A (p.Pro873His) single nucleotide variant Uncertain significance rs371401403 GRCh37 Chromosome 11, 47357547: 47357547
30 MYBPC3 NM_000256.3(MYBPC3): c.2618C> A (p.Pro873His) single nucleotide variant Uncertain significance rs371401403 GRCh38 Chromosome 11, 47335996: 47335996
31 MYBPC3 NM_000256.3(MYBPC3): c.1321G> A (p.Glu441Lys) single nucleotide variant Uncertain significance rs193922377 GRCh37 Chromosome 11, 47364602: 47364602
32 MYBPC3 NM_000256.3(MYBPC3): c.1321G> A (p.Glu441Lys) single nucleotide variant Uncertain significance rs193922377 GRCh38 Chromosome 11, 47343051: 47343051
33 MYBPC3 NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn) single nucleotide variant Pathogenic/Likely pathogenic rs36211723 GRCh37 Chromosome 11, 47360071: 47360071
34 MYBPC3 NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn) single nucleotide variant Pathogenic/Likely pathogenic rs36211723 GRCh38 Chromosome 11, 47338520: 47338520
35 MYBPC3 NM_000256.3(MYBPC3): c.2870C> G (p.Thr957Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs193922380 GRCh37 Chromosome 11, 47356628: 47356628
36 MYBPC3 NM_000256.3(MYBPC3): c.2870C> G (p.Thr957Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs193922380 GRCh38 Chromosome 11, 47335077: 47335077
37 MYBPC3 NM_000256.3(MYBPC3): c.2992C> G (p.Gln998Glu) single nucleotide variant Benign/Likely benign rs11570112 GRCh37 Chromosome 11, 47355475: 47355475
38 MYBPC3 NM_000256.3(MYBPC3): c.2992C> G (p.Gln998Glu) single nucleotide variant Benign/Likely benign rs11570112 GRCh38 Chromosome 11, 47333924: 47333924
39 MYBPC3 NM_000256.3(MYBPC3): c.529C> T (p.Arg177Cys) single nucleotide variant Uncertain significance rs193922385 GRCh37 Chromosome 11, 47371450: 47371450
40 MYBPC3 NM_000256.3(MYBPC3): c.529C> T (p.Arg177Cys) single nucleotide variant Uncertain significance rs193922385 GRCh38 Chromosome 11, 47349899: 47349899
41 MYBPC3 NM_000256.3(MYBPC3): c.565G> A (p.Val189Ile) single nucleotide variant Benign/Likely benign rs11570052 GRCh37 Chromosome 11, 47371414: 47371414
42 MYBPC3 NM_000256.3(MYBPC3): c.565G> A (p.Val189Ile) single nucleotide variant Benign/Likely benign rs11570052 GRCh38 Chromosome 11, 47349863: 47349863
43 MYBPC3 NM_000256.3(MYBPC3): c.932C> A (p.Ser311Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922386 GRCh37 Chromosome 11, 47367916: 47367916
44 MYBPC3 NM_000256.3(MYBPC3): c.932C> A (p.Ser311Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922386 GRCh38 Chromosome 11, 47346365: 47346365
45 MYBPC3 NM_000256.3(MYBPC3): c.2827C> T (p.Arg943Ter) single nucleotide variant Pathogenic rs387907267 GRCh37 Chromosome 11, 47356671: 47356671
46 MYBPC3 NM_000256.3(MYBPC3): c.2827C> T (p.Arg943Ter) single nucleotide variant Pathogenic rs387907267 GRCh38 Chromosome 11, 47335120: 47335120
47 MYBPC3 NM_000256.3(MYBPC3): c.1008C> T (p.Ile336=) single nucleotide variant Likely benign rs397515880 GRCh37 Chromosome 11, 47367840: 47367840
48 MYBPC3 NM_000256.3(MYBPC3): c.1008C> T (p.Ile336=) single nucleotide variant Likely benign rs397515880 GRCh38 Chromosome 11, 47346289: 47346289
49 MYBPC3 NM_000256.3(MYBPC3): c.1144C> T (p.Arg382Trp) single nucleotide variant Benign/Likely benign rs11570076 GRCh37 Chromosome 11, 47365122: 47365122
50 MYBPC3 NM_000256.3(MYBPC3): c.1144C> T (p.Arg382Trp) single nucleotide variant Benign/Likely benign rs11570076 GRCh38 Chromosome 11, 47343571: 47343571

Expression for Cardiomyopathy, Familial Hypertrophic, 4

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 4.

Pathways for Cardiomyopathy, Familial Hypertrophic, 4

GO Terms for Cardiomyopathy, Familial Hypertrophic, 4

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.43 MYBPC1 MYBPC3 TTN
2 sarcomere GO:0030017 9.33 MYBPC1 MYBPC3 TTN
3 myosin filament GO:0032982 9.32 MYBPC1 MYBPC3
4 M band GO:0031430 9.13 MYBPC1 MYBPC3 TTN
5 striated muscle thin filament GO:0005865 8.8 MYBPC1 MYBPC3 TTN

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.61 MYBPC1 MYBPC3 TTN
2 sarcomere organization GO:0045214 9.58 MYBPC1 MYBPC3 TTN
3 muscle filament sliding GO:0030049 9.54 MYBPC1 MYBPC3 TTN
4 cardiac muscle tissue morphogenesis GO:0055008 9.5 MYBPC1 MYBPC3 TTN
5 electron transport chain GO:0022900 9.48 COX8A NCF1
6 cardiac muscle contraction GO:0060048 9.46 MYBPC3 TTN
7 cardiac myofibril assembly GO:0055003 9.43 MYBPC1 MYBPC3 TTN
8 cardiac muscle fiber development GO:0048739 9.33 MYBPC1 MYBPC3 TTN
9 skeletal muscle thin filament assembly GO:0030240 9.13 MYBPC1 MYBPC3 TTN
10 skeletal muscle myosin thick filament assembly GO:0030241 8.8 MYBPC1 MYBPC3 TTN

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.43 MYBPC1 MYBPC3 TTN
2 titin binding GO:0031432 9.16 MYBPC1 MYBPC3
3 structural constituent of muscle GO:0008307 9.13 MYBPC1 MYBPC3 TTN
4 muscle alpha-actinin binding GO:0051371 8.8 MYBPC1 MYBPC3 TTN

Sources for Cardiomyopathy, Familial Hypertrophic, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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32 HMDB
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35 ICD10 via Orphanet
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46 MESH via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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