CMH4
MCID: CRD085
MIFTS: 34

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 57 12 13 73
Cmh4 57 12 75
Familial Hypertrophic Cardiomyopathy 4 29 6
Hypertrophic Cardiomyopathy 4 12 15
Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility to 6
Cardiomyopathy, Hypertrophic, Familial, Type 4 40
Cardiomyopathy, Familial Hypertrophic 4 75
Cardiomyopathy, Hypertrophic, 4 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (11p13-q13)
other forms at loci on chromosomes 1, 14, 15 and at least one other locus


HPO:

32
cardiomyopathy, familial hypertrophic, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 115197
Disease Ontology 12 DOID:0110310
MeSH 44 D024741
SNOMED-CT via HPO 69 263681008 233873004 45227007
UMLS 73 C1861862

Summaries for Cardiomyopathy, Familial Hypertrophic, 4

UniProtKB/Swiss-Prot : 75 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 newborn respiratory distress syndrome. 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 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, 19
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 29.7 TTN MYBPC3 MYBPC2 BRAF
2 newborn respiratory distress syndrome 10.0 TTN BRAF
3 familial isolated dilated cardiomyopathy 10.0 TTN MYBPC3
4 campomelic dysplasia 10.0 TTN MYBPC3
5 restrictive cardiomyopathy 9.8 TTN MYBPC3
6 intrinsic cardiomyopathy 9.8 TTN MYBPC3 MYBPC2
7 distal arthrogryposis 9.8 MYBPC2 MYBPC1
8 atrial standstill 1 9.8 TTN MYBPC3 MYBPC1
9 cardiomyopathy, familial hypertrophic, 1 9.6 TTN MYBPC3 MYBPC2 MYBPC1
10 dilated cardiomyopathy 9.6 TTN MYBPC3 MYBPC2 MYBPC1

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

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
hypertrophic cardiomyopathy


Clinical features from OMIM:

115197

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 4:

32
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639

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

26
# 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:

46
# 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 29 MYBPC3

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 4

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

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 4

Variations for Cardiomyopathy, Familial Hypertrophic, 4

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

75 (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
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
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
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
30 MYBPC3 p.Cys566Arg VAR_029404 rs730880695
31 MYBPC3 p.Asp604Val VAR_029405
32 MYBPC3 p.Pro608Leu VAR_029407
33 MYBPC3 p.Arg668His VAR_029408 rs727503191
34 MYBPC3 p.Arg668Pro VAR_029409
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 330)
# 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 Conflicting interpretations of pathogenicity rs11570112 GRCh37 Chromosome 11, 47355475: 47355475
38 MYBPC3 NM_000256.3(MYBPC3): c.2992C> G (p.Gln998Glu) single nucleotide variant Conflicting interpretations of pathogenicity 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 Conflicting interpretations of pathogenicity rs11570052 GRCh37 Chromosome 11, 47371414: 47371414
42 MYBPC3 NM_000256.3(MYBPC3): c.565G> A (p.Val189Ile) single nucleotide variant Conflicting interpretations of pathogenicity 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 cytosol GO:0005829 9.85 BRAF MYBPC1 MYBPC2 MYBPC3 NCF1 TTN
2 Z disc GO:0030018 9.62 MYBPC1 MYBPC2 MYBPC3 TTN
3 sarcomere GO:0030017 9.46 MYBPC1 MYBPC2 MYBPC3 TTN
4 myosin filament GO:0032982 9.43 MYBPC1 MYBPC2 MYBPC3
5 M band GO:0031430 9.26 MYBPC1 MYBPC2 MYBPC3 TTN
6 striated muscle thin filament GO:0005865 8.92 MYBPC1 MYBPC2 MYBPC3 TTN

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.73 MYBPC1 MYBPC2 MYBPC3 TTN
2 sarcomere organization GO:0045214 9.71 MYBPC1 MYBPC2 MYBPC3 TTN
3 cell adhesion GO:0007155 9.67 MYBPC1 MYBPC2 MYBPC3
4 muscle filament sliding GO:0030049 9.67 MYBPC1 MYBPC2 MYBPC3 TTN
5 cardiac muscle tissue morphogenesis GO:0055008 9.62 MYBPC1 MYBPC2 MYBPC3 TTN
6 cardiac myofibril assembly GO:0055003 9.56 MYBPC1 MYBPC2 MYBPC3 TTN
7 electron transport chain GO:0022900 9.48 COX8A NCF1
8 cardiac muscle contraction GO:0060048 9.46 MYBPC3 TTN
9 cardiac muscle fiber development GO:0048739 9.46 MYBPC1 MYBPC2 MYBPC3 TTN
10 skeletal muscle thin filament assembly GO:0030240 9.26 MYBPC1 MYBPC2 MYBPC3 TTN
11 skeletal muscle myosin thick filament assembly GO:0030241 8.92 MYBPC1 MYBPC2 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 9.46 MYBPC1 MYBPC2 MYBPC3 TTN
2 titin binding GO:0031432 9.26 MYBPC1 MYBPC3
3 structural constituent of muscle GO:0008307 9.26 MYBPC1 MYBPC2 MYBPC3 TTN
4 muscle alpha-actinin binding GO:0051371 8.92 MYBPC1 MYBPC2 MYBPC3 TTN

Sources for Cardiomyopathy, Familial Hypertrophic, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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30 HGMD
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64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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