CMH4
MCID: CRD203
MIFTS: 41

Cardiomyopathy, Hypertrophic, 4 (CMH4) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 4

About this section

Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 4:

Name: Cardiomyopathy, Hypertrophic, 4 52
Cardiomyopathy, Familial Hypertrophic, 4 11 12 68
Cardiomyopathy, Familial Hypertrophic 4 70 27
 
Hypertrophic Cardiomyopathy 4 11 13
Cmh4 11 70

Characteristics:

HPO:

64
cardiomyopathy, hypertrophic, 4:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 115197
Disease Ontology11 DOID:0110310
MeSH39 D024741

Summaries for Cardiomyopathy, Hypertrophic, 4

About this section
UniProtKB/Swiss-Prot:70 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, Hypertrophic, 4, also known as cardiomyopathy, familial hypertrophic, 4, is related to cardiomyopathy, familial hypertrophic and ostertagiasis, and has symptoms including hypertrophic cardiomyopathy An important gene associated with Cardiomyopathy, Hypertrophic, 4 is MYBPC3 (Myosin Binding Protein C, Cardiac), and among its related pathways are Dilated cardiomyopathy and Cardiac conduction. Affiliated tissues include heart.

Disease Ontology:11 A 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:52 115197

Related Diseases for Cardiomyopathy, Hypertrophic, 4

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Diseases in the Cardiomyopathy, Familial Hypertrophic family:

Cardiomyopathy, Hypertrophic, 20 Cardiomyopathy, Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 9 Cardiomyopathy, Hypertrophic, 13
Cardiomyopathy, Hypertrophic, 8 Cardiomyopathy, Hypertrophic, 16
Cardiomyopathy, Hypertrophic, 18 Cardiomyopathy, Hypertrophic 6
Cardiomyopathy, Hypertrophic, 15 Cardiomyopathy, Hypertrophic, 12
cardiomyopathy, hypertrophic, 4 Cardiomyopathy, Hypertrophic, 10
Cardiomyopathy, Hypertrophic, 14 Cardiomyopathy, Hypertrophic, 11
Cardiomyopathy, Hypertrophic, 3 Cardiomyopathy, Hypertrophic, 25
Cardiomyopathy, Hypertrophic, 19 Cardiomyopathy, Hypertrophic, 7
Cardiomyopathy, Hypertrophic, 17 Hypertrophic Cardiomyopathy 21
Hypertrophic Cardiomyopathy 26 Calr3-Related Familial Hypertrophic Cardiomyopathy
Jph2-Related Familial Hypertrophic Cardiomyopathy Actc1-Related Familial Hypertrophic Cardiomyopathy
Actn2-Related Familial Hypertrophic Cardiomyopathy Cav3-Related Hypertrophic Cardiomyopathy
Csrp3-Related Familial Hypertrophic Cardiomyopathy Mybpc3-Related Familial Hypertrophic Cardiomyopathy
Myh6-Related Familial Hypertrophic Cardiomyopathy Myh7-Related Familial Hypertrophic Cardiomyopathy
Myl2-Related Familial Hypertrophic Cardiomyopathy Myl3-Related Familial Hypertrophic Cardiomyopathy
Myoz2-Related Familial Hypertrophic Cardiomyopathy Nexn-Related Familial Hypertrophic Cardiomyopathy
Pln-Related Familial Hypertrophic Cardiomyopathy Tcap-Related Familial Hypertrophic Cardiomyopathy
Tnnc1-Related Familial Hypertrophic Cardiomyopathy Tnni3-Related Familial Hypertrophic Cardiomyopathy
Tnnt2-Related Familial Hypertrophic Cardiomyopathy Tpm1-Related Familial Hypertrophic Cardiomyopathy
Ttn-Related Familial Hypertrophic Cardiomyopathy Vcl-Related Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy Due to Intensive Athletic Training Cardiomyopathy, Infantile Hypertrophic

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, familial hypertrophic11.0
2ostertagiasis10.0MYBPC3, TTN
3pollen allergy10.0MYBPC3, TTN
4primary cutaneous gamma/delta-positive t-cell lymphoma9.9MYBPC3, TTN
5atrioventricular septal defect9.9MYBPC1, MYBPC2
6cardiomyopathy9.9
7pervasive developmental disorder9.9MYBPC2, MYBPC3, TTN
8cdkl5-related angelman-like syndrome9.8MYBPC2, MYBPC3, TTN
9long qt syndrome 99.6MYBPC1, MYBPC2, MYBPC3, TTN
10emery-dreifuss muscular dystrophy, dominant type9.6MYBPC1, MYBPC2, MYBPC3, TTN
11osteogenesis imperfecta, type xvi9.1COX8A, MYBPC1, MYBPC2, MYBPC3, NCF1, TTN

Graphical network of diseases related to Cardiomyopathy, Hypertrophic, 4:



Diseases related to cardiomyopathy, hypertrophic, 4

Symptoms & Phenotypes for Cardiomyopathy, Hypertrophic, 4

About this section

Symptoms by clinical synopsis from OMIM:

115197

Clinical features from OMIM:

115197

Human phenotypes related to Cardiomyopathy, Hypertrophic, 4:

 64
id Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy64 HP:0001639

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 4

About this section

Drugs for Cardiomyopathy, Hypertrophic, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 55)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SpironolactoneapprovedPhase 42321952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
2
Carvedilolapproved, investigationalPhase 416872956-09-32585
Synonyms:
(+-)-1-(Carbazol-4-yloxy)-3-((2-(O-methoxyphenoxy)ethyl)amino)-2-propanol
(+-)-1-(Carbazol-4-yloxy)-3-((2-(o-methoxyphenoxy)ethyl)amino)-2-propanol
(+-)-1-Carbazol-4-yloxy)-3-((2-(o-methoxyphenoxy)ethyl)amino)-2-propanol
(+/-)-1-(Carbazol-4-yloxy)-3-[[2-(o-methoxyphenoxy)ethyl]amino]-2-propanol
1-(9H-Carbazol-4-yloxy)-3-[[2-(2-methoxyphenoxy)ethyl]amino]-2-propanol
1-(9H-carbazol-4-yloxy)-3-[(2-{[2-(methyloxy)phenyl]oxy}ethyl)amino]propan-2-ol
1-(9H-carbazol-4-yloxy)-3-[2-(2-methoxyphenoxy)ethylamino]propan-2-ol
1-(9H-carbazol-4-yloxy)-3-{[2-(2-methoxyphenoxy)ethyl]amino}propan-2-ol
107741-96-8
72956-09-3
AB1004830
AC-1641
AC1L1E0B
Artist
Artist (TN)
Atlana Pharma brand of carvedilol
BM 14190
BM-14-190
BM-14.190
BM-14190
BRD-A10977446-001-04-8
BRD-A10977446-045-01-1
Bio-0014
C043211
C06875
C2260
C24H26N2O4
CHEBI:3441
CHEMBL723
CID2585
CPD000449280
Carvedilol
Carvedilol (JAN/USAN/INN)
Carvedilol [USAN:INN:BAN:JAN]
Carvedilolum
Carvedilolum [Latin]
Coreg
Coreg (TN)
Coreg CR
Coropres
Coropress
D00255
DB01136
DQ 2466
DQ-2466
Dibloc
 
Dilatrend
EG-P042
Eucardic
GlaxoSmithKline brand of carvedilol
HMS2051N03
HMS2089B09
HMS2093E12
HSDB 7044
I06-0064
I06-1477
KBio2_002145
KBio2_004713
KBio2_007281
KBio3_002323
KBioGR_001252
KBioSS_002145
Kredex
L001243
LS-121875
Lakeside brand of carvedilol
MLS000758299
MLS000759508
MLS001424092
MolPort-003-666-814
NCGC00167832-01
NCGC00167832-02
NCGC00167832-03
Querto
Roche brand of carvedilol
SAM001246736
SAM001247021
SK&F-105517
SKF 105517
SMR000449280
SPBio_001885
STK621453
Spectrum2_001673
Spectrum3_001182
Spectrum4_000636
Spectrum5_001436
Spectrum_001665
TL8005080
UNII-0K47UL67F2
carvedilol
carvedilol, (+-)-isomer
carvedilol, (R)-isomer
carvedilol, (S)-isomer
carvedilol, 14C-labeled
3
Metoprololapproved, investigationalPhase 421237350-58-6, 51384-51-14171
Synonyms:
(+/-)-Metoprolol
(RS)-Metoprolol
1-(Isopropylamino)-3-(4-(2-methoxyethyl)phenoxy)propan-2-ol
1-(Isopropylamino)-3-(p-(2-methoxyethyl)phenoxy)-2-propanol
1-(isopropylamino)-3-[4-(2-methoxyethyl)phenoxy]propan-2-ol
1-[(1-methylethyl)amino]-3-({4-[2-(methyloxy)ethyl]phenyl}oxy)propan-2-ol
1-[4-(2-methoxyethyl)phenoxy]-3-(propan-2-ylamino)propan-2-ol
1-[4-(2-methoxyethyl)phenoxy]-3-propan-2-ylamino-propan-2-ol
3-[4-(2-methoxyethyl)phenoxy]-1-(propan-2-ylamino)propan-2-ol
37350-58-6
51384-51-1
54163-88-1
AB00053499
AC-19022
AC1L1HKM
AstraZeneca Brand of Metaoprolol Tartrate
AstraZeneca Brand of Seloken
BRD-A03623303-045-02-0
Beatrolol
Beloc
Beloc Duriles
Beloc-Duriles
BelocDuriles
Betaloc
Betaloc Astra
Betaloc-Astra
BetalocAstra
Betalok
C07202
CCRIS 4198
CGP 2175
CGP-2175
CGP2175
CHEBI:6904
CHEMBL13
CID4171
D008790
D02358
DB00264
DL-metoprolol
Dl-Metoprolol
Dutoprol
EINECS 253-483-7
EINECS 257-166-4
H 93 26
H 93-26
H 9326
 
HMS2090B15
HSDB 6531
I01-7125
I06-0125
Jsp006606
L000669
LOPRESSIDONE
LS-122450
Leiras Brand of Metoprolol Succinate or Metoprolol Tartrate
Lopresor
Lopresoretic
Lopressor
Lopressor HCT
Meijoprolol
Metohexal
Metoprolol
Metoprolol (USAN/INN)
Metoprolol Tartrate
Metoprolol [USAN:INN:BAN]
Metoprolol slow release
Metoprolol succinate
Metoprolol tartrate
Metoprololum
Metoprololum [INN-Latin]
Metroprolol
MolPort-005-938-039
NCGC00021148-02
NCGC00021148-03
NCGC00021148-04
Novartis Brand of Metprolol Tartrate
Preblok
Prelis
Presolol
Selo-Zok
Seloken
Seloken AstraZeneca Brand
Selopral
Seroken
Spesicor
Spesikor
TOPROL-XL
Tartrate, Metoprolol
Toprol
Toprol XL
Toprol-XL
UNII-GEB06NHM23
dl-Metoprolol
metoprolol
4
Ranolazineapproved, investigationalPhase 480142387-99-3, 95635-55-556959
Synonyms:
( -)-Ranolazine
(-)-Ranolazine
142387-99-3
95635-55-5
AC-1673
AC1L1M17
AC1Q5LYD
BRD-A97674275-001-01-9
BSPBio_002276
CHEMBL1404
CID56959
CVT-303
D05700
DB00243
HMS1922F16
HMS2090L09
HMS2093D21
I01-2008
I06-0160
KEG-1295
LS-187267
Latixa
Lopac0_001062
 
MLS002154149
MolPort-003-666-653
N-(2,6-dimethylphenyl)-2-[4-[2-hydroxy-3-(2-methoxyphenoxy)propyl]piperazin-1-yl]acetamide
NCGC00015897-05
NCGC00095177-01
NCGC00095177-02
NCGC00095177-03
RAN D
RANOLAZINE
RS-43285
RS-43285-003
Ran4
Ranexa
Ranexa (TN)
Ranexa, Ranolazine
Ranolazine (USAN/INN)
Ranolazine 2HCl
Ranolazine Dihydrochloride
Ranolazine dihydrochloride
S1799_Selleck
SMR000857382
SPECTRUM1505366
UNII-A6IEZ5M406
ranolazine
5
DoxazosinapprovedPhase 45874191-85-83157
Synonyms:
1-(4-Amino-6,7-Dimethoxy-2-quinazolinyl)-4-(1,4-benzodioxan-2-ylcarbonyl)piperazin
1-(4-Amino-6,7-dimethoxy-2-chinazolinyl)-4-(2,3-dihydro-1,4-benzodioxixin-2-ylcarbonyl)piperazin
1-(4-Amino-6,7-dimethoxy-2-quinazolinyl)-4-[4-(1,4-benzodioxan-2-yl)carpiperazin-1-yl)]-6,7-dimethoxyquinazoline mesylate
2-[4-(2,3-dihydro-1,4-benzodioxin-2-ylcarbonyl)piperazin-1-yl]-6,7-bis(methyloxy)quinazolin-4-amine
2-[4-(2,3-dihydro-1,4-benzodioxin-2-ylcarbonyl)piperazin-1-yl]-6,7-dimethoxyquinazolin-4-amine
2-{4-[(2,3-dihydro-1,4-benzodioxin-2-yl)carbonyl]piperazin-1-yl}-6,7-dimethoxyquinazolin-4-amine
74191-85-8
77883-43-3 (mesylate)
AC-11062
AC1L1FAT
AC1Q470P
AC1Q4EXN
AKOS001681453
BPBio1_000963
BRD-A13188892-066-03-3
BSPBio_000875
C06970
C23H25N5O5
CHEBI:4708
CHEMBL707
CID3157
CPD000097306
Cardura XL (TN)
Cardura-1
Cardura-2
Cardura-4
ChemDiv2_005017
D07874
D9815_SIGMA
DB00590
 
Doxazosin (INN)
Doxazosin [INN:BAN]
Doxazosin mesilate
Doxazosina
Doxazosina [Spanish]
Doxazosine
Doxazosine [French]
Doxazosinum
Doxazosinum [Latin]
HMS1383E01
HMS2090C20
I06-1346
IDI1_003732
L000738
LS-110228
Lopac0_000474
MolPort-001-684-491
NCGC00018158-06
NCGC00089775-02
Normothen
Oprea1_259518
Prestwick0_000858
Prestwick1_000858
Prestwick2_000858
Prestwick3_000858
SAM002589981
SPBio_002796
UK 33274
UK-33274
UNII-NW1291F1W8
[4-(4-amino-6,7-dimethoxyquinazolin-2-yl)piperazin-1-yl]-(2,3-dihydro-1,4-benzodioxin-3-yl)methanone
doxazosin
6
Tadalafilapproved, investigationalPhase 4155171596-29-5110635
Synonyms:
(6R,12AR)-2,3,6,7,12,12a-hexahydro-2-methyl-6-(3,4-(methylenedioxy)phenyl) pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
(6R,12aR)-2,3,6,7,12,12a-Hexahydro-2-methyl-6-(3,4-(methylenedioxy)phenyl) pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
(6R,12aR)-2,3,6,7,12,12a-Hexahydro-2-methyl-6-(3,4-methylenedioxyphenyl)pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
(6R-trans)-6-(1,3-Benzodioxol-5-yl)-2,3,6,7,12,12a-hexahydro-2-methyl-pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
171596-29-5
1xoz
6-BENZO[1,3]dioxol-5-yl-2-methyl-2,3,6,7,12,12a-hexahydro-pyrazino[1',2':1,6]pyrido[3,4-b]indole-1,4-dione
AC1L380B
ADCIRCA
Acdirca
Adcirca
C429886
CHEBI:41488
CHEMBL779
CID110635
CPD000466321
Cialis
Cialis (TN)
Cialis, GF 196960, IC 351, ICOS 351, Tadalafil
D02008
DB00820
FT-0080116
GF 196960
GF-196960
 
HMS2051N17
HSDB 7303
IC 351
IC-351
ICOS 351
Ic351
KS-1117
LS-186558
LS-187015
LS-187770
Lilly brand of tadalafil
MLS000759426
MLS001165782
MLS001195644
MLS001424132
MolPort-002-885-864
S1512_Selleck
SAM001246586
SMR000466321
Tadalafil
Tadalafil (JAN/USAN/INN)
Tadalafil [USAN]
Tadanafil
UNII-742SXX0ICT
ZINC03993855
7
ChlorthalidoneapprovedPhase 46477-36-12732
Synonyms:
(+-)-Chlorthalidone
(+-)-Hygroton
1-Keto-3-(3'-sulfamyl-4'-chlorophenyl)-3-hydroxyisoindoline
1-Oxo-3-(3-sulfamyl-4-chlorophenyl)-3-hydroxyisoindoline
1-keto-3-(3'-Sulfamyl-4'-chlorophenyl)-3-hydroxyisoindoline
1-oxo-3-(3-Sulfamyl-4-chlorophenyl)-3-hydroxyisoindoline
2-Chloro-5-(1-hydroxy-3-oxo-1-isoindolinyl)benzenesulfonamide
2-Chloro-5-(1-hydroxy-3-oxo-2,3-dihydro-1H-isoindol-1-yl)benzenesulfonamide
2-chloro-5-(1-Hydroxy-3-oxo-1-isoindolinyl)benzenesulfonamide
2-chloro-5-(1-hydroxy-3-oxo-2H-isoindol-1-yl)benzenesulfonamide
2-chloro-5-(2,3-dihydro-1-Hydroxy-3-oxo-1H-isoindol-1-yl)benzenesulfonamide
2-chloro-5-(2,3-dihydro-1-hydroxy-3-oxo-1H-isoindol-1-yl)benzenesulfonamide
3-(4'-Chloro-3'-sulfamoylphenyl)-3-hydroxyphthalimidine
3-(4'-chloro-3'-Sulfamoylphenyl)-3-hydroxyphthalimidine
3-Hydroxy-3-(4-chloro-3-sulfamylphenyl)phthalimidine
5-22-07-00602 (Beilstein Handbook Reference)
77-36-1
A3836/0162845
AB00051946
AC-11367
AC1L1ECB
AC1Q558X
BPBio1_000487
BRD-A26384407-001-05-3
BRN 0312295
BSPBio_000441
BSPBio_002017
C14H11ClN2O4S
C2775_FLUKA
C2775_SIGMA
CHEBI:3654
CHEMBL1055
CID2732
CPD000058635
Chlorothalidone
Chlorphthalidolone
Chlorphthalidone
Chlortalidone
Chlortalidone (JAN/INN)
Chlortalidonum
Chlortalidonum [INN-Latin]
Chlorthalidon
Chlorthalidone
Chlorthalidone (USP)
Chlorthalidone [USAN:INN:BAN]
Clodronic Acid
Clortalidona
Clortalidona [INN-Spanish]
Clortalidone
Clortalidone [DCIT]
D00272
D002752
DB00310
DivK1c_000731
EINECS 201-022-5
Famolin
G 33182
G-33182
HMS1569G03
HMS1920M09
 
HMS2091E12
HMS502E13
HSDB 3035
Higroton
Hydro-Long
Hygroton
Hygroton (TN)
I06-0208
IDI1_000731
Igroton
Isoren
KBio1_000731
KBio2_000626
KBio2_003194
KBio2_005762
KBio3_001237
KBioGR_001574
KBioSS_000626
LS-31408
MLS000069531
MolPort-002-736-049
NCGC00094616-01
NCGC00094616-02
NCGC00094616-03
NCGC00094616-04
NINDS_000731
NSC 69200
NSC69200
Natriuran
Oksodolin (oxodolin)
Oradil
Oxodolin
Oxodoline
Phthalamodine
Phthalamudine
Prestwick0_000351
Prestwick1_000351
Prestwick2_000351
Prestwick3_000351
Prestwick_759
Racemic chlorthalidone
Renon
SAM002589983
SMR000058635
SPBio_000058
SPBio_002362
SPECTRUM1500187
ST088141
STK686335
Saluretin
Spectrum2_000099
Spectrum3_000349
Spectrum4_000957
Spectrum5_000743
Spectrum_000146
Tenoretic
Thalitone
Thalitone (TN)
UNII-Q0MQD1073Q
Urolin
Zambesil
chlorthalidone
8
GlimepirideapprovedPhase 423493479-97-13476
Synonyms:
1-((p-(2-(3-Ethyl-4-methyl-2-oxo-3-pyrroline-1-carboxamido)ethyl)phenyl)sulfonyl)-3-(trans-4-methylcyclohexyl)urea
1-{[4-(2-{[(3-ethyl-4-methyl-2-oxo-2,5-dihydro-1H-pyrrol-1-yl)carbonyl]amino}ethyl)phenyl]sulfonyl}-3-(trans-4-methylcyclohexyl)urea
3-ethyl-4-methyl-N-[2-(4-{[(trans-4-methylcyclohexyl)carbamoyl]sulfamoyl}phenyl)ethyl]-2-oxo-2,5-dihydro-1H-pyrrole-1-carboxamide
3-ethyl-4-methyl-n-(4-(n-((1r,4r)-4-methylcyclohexylcarbamoyl)sulfamoyl)phenethyl)-2-oxo-2,5-dihydro
4-ethyl-3-methyl-N-[2-[4-[(4-methylcyclohexyl)carbamoylsulfamoyl]phenyl]ethyl]-5-oxo-2H-pyrrole-1-carboxamide
64598P
93479-97-1
AB00513874
AC-476
AC1L1G0T
Amarel
Amaryl
Amaryl (TN)
Amaryl, Glista OD, Glimepiride
Avaglim
BPBio1_000751
BRD-K34776109-001-03-4
BRD-K42693031-001-01-8
BRN 5365754
BSPBio_000681
Bio-0049
C07669
C24H34N4O5S
CAS-93479-97-1
CCRIS 7083
CHEBI:5383
CHEMBL1481
CID3476
CPD000466368
D00593
DB00222
Endial
G2295_SIGMA
Glimepirid
Glimepirida
Glimepirida [Spanish]
Glimepiride (JAN/USP/INN)
Glimepiride [USAN:BAN:INN]
Glimepiridum
Glimepiridum [Latin]
 
Glimepride
Glimer
Glim├ępiride
Glymepirid
HMS1570C03
HMS2052L03
HMS2090K18
HOE 490
Hoe-490
I06-0029
I06-2285
LS-136752
MLS000759495
MLS001076674
MLS001401419
MolPort-003-847-587
MolPort-003-987-461
MolPort-005-941-721
NCGC00016960-01
NCGC00161404-01
NCGC00161404-02
NCGC00181757-01
Novo-glimepiride
Oprea1_382896
PMS-glimepiride
Prestwick0_000651
Prestwick1_000651
Prestwick2_000651
Prestwick3_000651
Ratio-glimepiride
Roname
S1344_Selleck
SAM001246710
SMR000466368
SPBio_002602
Sandoz glimepiride
Solosa
TL8005924
UNII-6KY687524K
ZINC00537791
glimepiride
9
EmpagliflozinapprovedPhase 4133864070-44-0
Synonyms:
 
(1S)-1,5-anhydro-1-(4-chloro-3-{4-[(3S)-tetrahydrofuran-3-yloxy]benzyl}phenyl)-D-glucitol
1-chloro-4-(glucopyranos-1-yl)-2-(4-(tetrahydrofuran-3-yloxy)benzyl)benzene
10
DobutamineapprovedPhase 411934368-04-236811
Synonyms:
(+-)-4-(2-((3-(P-Hydroxyphenyl)-1-methylpropyl)amino)ethyl)pyrocatechol
(+-)-4-(2-((3-(p-Hydroxyphenyl)-1-methylpropyl)amino)ethyl)pyrocatechol
3,4-Dihydroxy-N-[3-(4-hydroxyphenyl)-1-methylpropyl]-beta-phenylethylamine
3,4-dihydroxy-N-[3-(4-hydroxyphenyl)-1-methylpropyl]-beta-phenylethylamine
34368-04-2
34368-04-2 (Parent)
4-(2-{[3-(4-hydroxyphenyl)-1-methylpropyl]amino}ethyl)benzene-1,2-diol
4-(2-{[4-(4-hydroxyphenyl)butan-2-yl]amino}ethyl)benzene-1,2-diol
4-[2-[4-(4-hydroxyphenyl)butan-2-ylamino]ethyl]benzene-1,2-diol
4-{2-[3-(4-hydroxy-phenyl)-1-methyl-propylamino]-ethyl}-benzene-1,2-diol
52663-81-7 (hydrochloride)
74753-15-4
74753-15-4 (hydrobromide)
AC1L1WFF
AC1Q7AD1
BPBio1_000489
BRD-A78322124-003-03-3
BSPBio_000443
C06967
CHEBI:4670
CHEMBL926
CID36811
D03879
DB00841
DL-Dobutamine
DL-dobutamine
Dobutamin
Dobutamina
Dobutamina [INN-Spanish]
Dobutamine
Dobutamine (USP/INN)
Dobutamine Hcl
Dobutamine Hcl in Dextrose 5%
 
Dobutamine Hydrochloride
Dobutamine Tartrate (1:1), (S-(R*,R*))-Isomer
Dobutamine [USAN:BAN:INN]
Dobutamine [USAN]
Dobutamine [Usan:Ban:Inn]
Dobutamine [Usan]
Dobutamine hydrobromide
Dobutaminum
Dobutaminum [INN-Latin]
Dobutrex
EINECS 277-982-4
HMS2089K05
Inotrex
L001157
LS-174467
LY 81929
Lilly 81929
Lopac0_000365
NCGC00015321-05
NCGC00024629-02
NCGC00024629-03
Prestwick0_000352
Prestwick1_000352
Prestwick2_000352
Prestwick3_000352
Racemic-Dobutamine
Racemic-dobutamine
SPBio_002364
UNII-0WR771DJXV
UNII-3S12J47372
dobutamine
dobutamine(usp)
rac-Dobutamine
rac-dobutamine
racemic-Dobutamine
11Calcium, DietaryPhase 4, Phase 35713
12diureticsPhase 41418
13Vasodilator AgentsPhase 4, Phase 33543
14Hormone AntagonistsPhase 413180
15Natriuretic AgentsPhase 41697
16Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 413168
17Diuretics, Potassium SparingPhase 41917
18HormonesPhase 414415
19MineralocorticoidsPhase 4367
20Mineralocorticoid Receptor AntagonistsPhase 4346
21Adrenergic alpha-1 Receptor AntagonistsPhase 4480
22SympatholyticsPhase 4580
23Peripheral Nervous System AgentsPhase 423689
24Neurotransmitter AgentsPhase 418340
25Adrenergic beta-1 Receptor AntagonistsPhase 4364
26Adrenergic AntagonistsPhase 41573
27Adrenergic alpha-AntagonistsPhase 4739
28Sodium Channel BlockersPhase 41593
29Adrenergic beta-AntagonistsPhase 41193
30Adrenergic AgentsPhase 45352
31Anti-Arrhythmia AgentsPhase 43093
32Autonomic AgentsPhase 410150
33Antihypertensive AgentsPhase 44207
34Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 41998
35Lipid Regulating AgentsPhase 42766
36Hypolipidemic AgentsPhase 42785
37Anticholesteremic AgentsPhase 42025
38Phosphodiesterase 5 InhibitorsPhase 4589
39Atorvastatin CalciumPhase 4760134523-03-8
40Phosphodiesterase InhibitorsPhase 41289
41Sodium Chloride Symporter InhibitorsPhase 4452
42AntimetabolitesPhase 412054
43Immunosuppressive AgentsPhase 413086
44Hypoglycemic AgentsPhase 45896
45Protective AgentsPhase 47443
46Adrenergic beta-AgonistsPhase 41714
47Adrenergic AgonistsPhase 43027
48carnitineNutraceuticalPhase 4162
49
PerhexilineapprovedPhase 386621-47-24746
Synonyms:
(+)-2-(2,2-Dicyclohexylethyl)piperidine
(-)-2-(2,2-Dicyclohexylethyl)piperidine
2-(2,2-Dicyclohexylethyl)piperidine
39648-47-0
39648-48-1
6621-47-2
AB00053656
AC1L1IV5
BPBio1_000212
BSPBio_000192
BSPBio_003118
C19H35N
CHEBI:35553
CHEMBL75880
CID4746
D010480
D08340
DB01074
DivK1c_000542
EINECS 229-569-5
EINECS 254-558-7
EINECS 254-559-2
IDI1_000542
KBio1_000542
KBio2_000353
KBio2_002921
KBio2_005489
 
KBio3_002618
KBioGR_000685
KBioSS_000353
LS-176505
MolPort-003-808-309
NINDS_000542
Oprea1_365504
PERHEXILINE
Perhexilene
Perhexilina
Perhexilina [INN-Spanish]
Perhexiline
Perhexiline (INN)
Perhexiline [INN:BAN]
Perhexilinum
Perhexilinum [INN-Latin]
Perhexilline
Prestwick0_000286
Prestwick1_000286
Prestwick2_000286
Prestwick3_000286
SPBio_001358
SPBio_002411
Spectrum2_001539
Spectrum3_001579
Spectrum4_000173
Spectrum5_001084
Spectrum_000013
perhexilline
50
Maleic acidexperimentalPhase 3296110-16-7444266
Synonyms:
(2Z)-2-Butenedioate
(2Z)-2-Butenedioic acid
(2Z)-Butene-2-dioate
(2Z)-Butene-2-dioic acid
(2Z)-but-2-enedioate
(2Z)-but-2-enedioic acid
(Z)-2-Butenedioate
(Z)-2-Butenedioic acid
(z)-butenedioate
(z)-butenedioic acid
2-Butenedioate
2-Butenedioic acid
Cis-butenedioate
Cis-butenedioic acid
 
H2male
Kyselina maleinova
MAE
Maleate
Maleic acid
Maleic acid [NA2215]
Maleinic acid
Malenic acid
Malezid CM
Scotchbond multipurpose etchant
Toxilic acid
cis-1,2-Ethylenedicarboxylic acid
cis-2-Butenedioate
cis-2-Butenedioic acid
cis-But-2-enedioate
cis-But-2-enedioic acid

Interventional clinical trials:

(show all 24)
idNameStatusNCT IDPhase
1Clinical and Therapeutic Implications of Fibrosis in Hypertrophic CardiomyopathyUnknown statusNCT00879060Phase 4
2Identification of Carnitine-Responsive CardiomyopathyUnknown statusNCT01904396Phase 4
3Effects of Spironolactone in DialysisUnknown statusNCT01128101Phase 4
4Ranolazine for the Treatment of Chest Pain in HCM PatientsCompletedNCT01721967Phase 4
5Effect of Beta-blockers on Structural Remodeling and Gene Expression in the Failing Human HeartCompletedNCT01798992Phase 4
6REmodelling in Diabetic CardiOmapathy: Gender Response to PDE5i InhibiTOrsRecruitingNCT01803828Phase 4
7Comparing the Effects of Spironolactone With Chlortalidone on LV Mass in Patients With CKDRecruitingNCT02502981Phase 4
8Effects of Atorvastatin Treatment on Left Ventricular Diastolic Function in Peritoneal Dialysis PatientsRecruitingNCT01503671Phase 4
9Evaluating the Effect of Spironolactone on Hypertrophic CardiomyopathyNot yet recruitingNCT02948998Phase 4
10SGLT2 Inhibition and Left Ventricular MassNot yet recruitingNCT02728453Phase 4
11The Effects of Dobutamine on Postoperative Cardiac Function in Aortic Valve ReplacementSuspendedNCT01375335Phase 4
12Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot StudyTerminatedNCT01272388Phase 4
13Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart FailureUnknown statusNCT02431221Phase 3
14Study of Exercise Training in Hypertrophic CardiomyopathyCompletedNCT01127061
15Registry and Prevalence of Gene Mutation in Korean Patients With Familial Hypertrophic CardiomyopathyCompletedNCT01792960
16Long-Term Results of DDD Pacing in Obstructive Hypertrophic CardiomyopathyCompletedNCT00001530
17The Role of Heart Stiff and Weak Atrium on Exercise Capacity in Patients With Hypertrophic CardiomyopathyCompletedNCT00074880
18Neurohormonal Parameters in Hypertrophic CardiomyopathiesCompletedNCT01729702
19Extended Ambulatory Monitoring Improves Risk Stratification in Hypertrophic CardiomyopathyRecruitingNCT03182153
20Comparisonof Extended Myoectomy and Myoectomy by Morrow in Patients With Hypertrophic Obstructive Cardiomyopathy (HOCM)RecruitingNCT02492399
21Stress Echo 2020 - The International Stress Echo StudyRecruitingNCT03049995
22Reversible Pulmonary Artery Banding as Simplified Management of End-stage Dilated Left Ventriculopathy in Early LifeRecruitingNCT02652676
23Fabry's Disease and Pregnancy (PREFAB)Enrolling by invitationNCT02582294
24Cardiac Rehabilitation in Patients With HCM Without LV Outflow Tract Obstruction With Preserved EF - Pilot StudyNot yet recruitingNCT03178357

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 4

Genetic Tests for Cardiomyopathy, Hypertrophic, 4

About this section

Genetic tests related to Cardiomyopathy, Hypertrophic, 4:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 427

Anatomical Context for Cardiomyopathy, Hypertrophic, 4

About this section

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

36
Heart

Publications for Cardiomyopathy, Hypertrophic, 4

About this section

Variations for Cardiomyopathy, Hypertrophic, 4

About this section

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

70 (show all 66)
id Symbol AA change Variation ID SNP ID
1MYBPC3p.Glu542GlnVAR_003917rs121909374
2MYBPC3p.Arg654HisVAR_003918rs1800565
3MYBPC3p.Asn755LysVAR_003919
4MYBPC3p.His257ProVAR_019889
5MYBPC3p.Glu258LysVAR_019890rs397516074
6MYBPC3p.Gly278GluVAR_019891rs147315081
7MYBPC3p.Gly279AlaVAR_019892rs375774648
8MYBPC3p.Leu352ProVAR_019894
9MYBPC3p.Arg502TrpVAR_019895rs375882485
10MYBPC3p.Lys811ArgVAR_019897
11MYBPC3p.Ala833ValVAR_019898rs3729952
12MYBPC3p.Ala1194ThrVAR_019900rs397516026
13MYBPC3p.Ala1255ThrVAR_019901rs727503167
14MYBPC3p.Gln998GluVAR_020574rs11570112
15MYBPC3p.Glu451GlnVAR_027879
16MYBPC3p.Arg495GlnVAR_027880rs200411226
17MYBPC3p.Arg502GlnVAR_027881rs397515907
18MYBPC3p.Gly5ArgVAR_029390rs201278114
19MYBPC3p.Thr59AlaVAR_029391rs121909375
20MYBPC3p.Pro161SerVAR_029392
21MYBPC3p.Val219LeuVAR_029393rs397516068
22MYBPC3p.Asp228AsnVAR_029394rs369300885
23MYBPC3p.Tyr237SerVAR_029395rs397516070
24MYBPC3p.Val256IleVAR_029396
25MYBPC3p.Arg282TrpVAR_029397rs727504234
26MYBPC3p.Arg458HisVAR_029399rs374255707
27MYBPC3p.Gly490ArgVAR_029400rs200625851
28MYBPC3p.Gly507ArgVAR_029401rs35736435
29MYBPC3p.Gly523TrpVAR_029402
30MYBPC3p.Cys566ArgVAR_029404rs730880695
31MYBPC3p.Asp604ValVAR_029405
32MYBPC3p.Pro608LeuVAR_029407
33MYBPC3p.Arg668HisVAR_029408rs727503191
34MYBPC3p.Arg668ProVAR_029409
35MYBPC3p.Arg733CysVAR_029410rs397515956
36MYBPC3p.Asp770AsnVAR_029411rs36211723
37MYBPC3p.Trp792ArgVAR_029412rs187830361
38MYBPC3p.Arg810HisVAR_029413rs375675796
39MYBPC3p.Arg820GlnVAR_029416rs2856655
40MYBPC3p.Ala833ThrVAR_029417rs199865688
41MYBPC3p.Arg834ThrVAR_029418
42MYBPC3p.Pro873HisVAR_029420rs371401403
43MYBPC3p.Asn948ThrVAR_029421rs121909376
44MYBPC3p.Gln998ArgVAR_029422rs727503177
45MYBPC3p.Arg1002GlnVAR_029423rs727504235
46MYBPC3p.Pro1003GlnVAR_029425
47MYBPC3p.Phe1113IleVAR_029426
48MYBPC3p.Val1115IleVAR_029427rs531189495
49MYBPC3p.Gly263ArgVAR_042740rs373730381
50MYBPC3p.Arg273HisVAR_042741rs376461745
51MYBPC3p.Ala417SerVAR_042742
52MYBPC3p.Leu669HisVAR_042743
53MYBPC3p.Glu759AspVAR_042744
54MYBPC3p.Arg495GlyVAR_045929rs397515905
55MYBPC3p.Thr1028SerVAR_045930rs397516002
56MYBPC3p.Gly1248ArgVAR_045931rs202147520
57MYBPC3p.Arg272CysVAR_070449rs397516075
58MYBPC3p.Ile336ValVAR_070450
59MYBPC3p.Gly490ValVAR_070451rs397514752
60MYBPC3p.Thr957SerVAR_070453rs193922380
61MYBPC3p.Thr958IleVAR_070454rs376504548
62MYBPC3p.Glu334LysVAR_074539rs573916965
63MYBPC3p.Val342AspVAR_074540rs730880709
64MYBPC3p.Ala627ValVAR_074541
65MYBPC3p.Val771MetVAR_074542rs371488302
66MYBPC3p.Thr1046MetVAR_074544rs371061770

Clinvar genetic disease variations for Cardiomyopathy, Hypertrophic, 4:

5 (show all 51)
id Gene Variation Type Significance SNP ID Assembly Location
1MYBPC3NM_ 000256.3(MYBPC3): c.3642G> A (p.Trp1214Ter)SNVPathogenic/ Likely pathogenicrs368765949GRCh37Chr 11, 47353795: 47353795
2MYBPC3NM_ 000256.3(MYBPC3): c.3288delG (p.Glu1096Aspfs)deletionPathogenicrs727503172GRCh37Chr 11, 47354787: 47354787
3MYBPC3NM_ 000256.3(MYBPC3): c.1484G> A (p.Arg495Gln)SNVPathogenic/ Likely pathogenicrs200411226GRCh37Chr 11, 47364269: 47364269
4MYBPC3NM_ 000256.3(MYBPC3): c.2394dupT (p.Gly799Trpfs)duplicationPathogenic/ Likely pathogenicrs730880341GRCh38Chr 11, 47337709: 47337709
5MYBPC3NM_ 000256.3(MYBPC3): c.1358dupC (p.Val454Cysfs)duplicationPathogenic/ Likely pathogenicrs730880711GRCh38Chr 11, 47342929: 47342929
6MYBPC3NM_ 000256.3(MYBPC3): c.676_ 701dup26 (p.Gly235Serfs)duplicationPathogenicrs786204329GRCh38Chr 11, 47348495: 47348520
7MYBPC3NM_ 000256.3(MYBPC3): c.2065C> T (p.Gln689Ter)SNVPathogenic/ Likely pathogenicrs863224483GRCh38Chr 11, 47339653: 47339653
8MYBPC3NM_ 000256.3(MYBPC3): c.2414-1G> ASNVLikely pathogenicrs863224899GRCh38Chr 11, 47337580: 47337580
9MYBPC3NM_ 000256.3(MYBPC3): c.1357C> T (p.Pro453Ser)SNVLikely pathogenicrs749310275GRCh37Chr 11, 47364481: 47364481
10MYBPC3NM_ 000256.3(MYBPC3): c.2670dupG (p.Arg891Alafs)duplicationLikely pathogenicrs863225104GRCh37Chr 11, 47357495: 47357495
11MYBPC3NM_ 000256.3(MYBPC3): c.2550delC (p.Asn850Lysfs)deletionLikely pathogenicrs863225105GRCh38Chr 11, 47337443: 47337443
12MYBPC3NM_ 000256.3(MYBPC3): c.2371C> T (p.Gln791Ter)SNVLikely pathogenicrs863225106GRCh37Chr 11, 47359283: 47359283
13MYBPC3NM_ 000256.3(MYBPC3): c.3662delT (p.Leu1221Argfs)deletionLikely pathogenicrs863225107GRCh37Chr 11, 47353775: 47353775
14MYBPC3NM_ 000256.3(MYBPC3): c.306delC (p.Met103Cysfs)deletionLikely pathogenicrs863225109GRCh38Chr 11, 47350602: 47350602
15MYBPC3NM_ 000256.3(MYBPC3): c.227dupA (p.Ser78Ilefs)duplicationLikely pathogenicrs863225111GRCh37Chr 11, 47372855: 47372855
16MYBPC3NM_ 000256.3(MYBPC3): c.2376G> A (p.Trp792Ter)SNVLikely pathogenicrs863225112GRCh37Chr 11, 47359278: 47359278
17MYBPC3NM_ 000256.3(MYBPC3): c.3300C> A (p.Tyr1100Ter)SNVLikely pathogenicrs863225113GRCh37Chr 11, 47354775: 47354775
18MYBPC3NM_ 000256.3(MYBPC3): c.3414dupC (p.Val1139Argfs)duplicationLikely pathogenicrs863225114GRCh37Chr 11, 47354441: 47354441
19MYBPC3NM_ 000256.3(MYBPC3): c.1404delG (p.Gln469Serfs)deletionPathogenic/ Likely pathogenicrs886037900GRCh38Chr 11, 47342883: 47342883
20MYBPC3NM_ 000256.3(MYBPC3): c.332_ 335dupCTGA (p.Glu112Aspfs)duplicationPathogenicrs886037901GRCh38Chr 11, 47350573: 47350576
21MYBPC3NM_ 000256.3(MYBPC3): c.927_ 928delGG (p.Asp310Leufs)deletionLikely pathogenicrs886037902GRCh38Chr 11, 47346369: 47346370
22MYBPC3NM_ 000256.3(MYBPC3): c.2308G> A (p.Asp770Asn)SNVPathogenic/ Likely pathogenicrs36211723GRCh37Chr 11, 47360071: 47360071
23MYBPC3NM_ 000256.3(MYBPC3): c.2827C> T (p.Arg943Ter)SNVPathogenic/ Likely pathogenicrs387907267GRCh37Chr 11, 47356671: 47356671
24NCF1NM_ 000265.5(NCF1): c.*154+25G> ASNVPathogenicrs1057519503GRCh38Chr 7, 74789339: 74789339
25MYBPC3NM_ 000256.3(MYBPC3): c.3324_ 3325delGA (p.Lys1108Asnfs)deletionPathogenicrs1060499673GRCh37Chr 11, 47354750: 47354751
26MYBPC3NM_ 000256.3(MYBPC3): c.2148+1G> TSNVLikely pathogenicrs1060499604GRCh38Chr 11, 47339323: 47339323
27MYBPC3NM_ 000256.3(MYBPC3): c.1505G> A (p.Arg502Gln)SNVPathogenic/ Likely pathogenicrs397515907GRCh37Chr 11, 47364248: 47364248
28MYBPC3NM_ 000256.3(MYBPC3): c.1928-2A> GSNVPathogenicrs397515937GRCh37Chr 11, 47361343: 47361343
29MYBPC3NM_ 000256.3(MYBPC3): c.2308+1G> ASNVPathogenicrs112738974GRCh37Chr 11, 47360070: 47360070
30MYBPC3NM_ 000256.3(MYBPC3): c.2373dupG (p.Trp792Valfs)duplicationPathogenicrs397515963GRCh37Chr 11, 47359281: 47359281
31MYBPC3NM_ 000256.3(MYBPC3): c.2534_ 2538delGCGTC (p.Arg845Leufs)deletionPathogenicrs397515973GRCh37Chr 11, 47359006: 47359010
32MYBPC3NM_ 000256.3(MYBPC3): c.2541C> G (p.Tyr847Ter)SNVPathogenic/ Likely pathogenicrs397515974GRCh37Chr 11, 47359003: 47359003
33MYBPC3NM_ 000256.3(MYBPC3): c.2864_ 2865delCT (p.Pro955Argfs)deletionPathogenic/ Likely pathogenicrs397515990GRCh37Chr 11, 47356633: 47356634
34MYBPC3NM_ 000256.3(MYBPC3): c.3490+1G> ASNVPathogenicrs397516020GRCh37Chr 11, 47354364: 47354364
35MYBPC3NM_ 000256.3(MYBPC3): c.3599T> C (p.Leu1200Pro)SNVLikely pathogenicrs397516028GRCh37Chr 11, 47354145: 47354145
36MYBPC3NM_ 000256.3(MYBPC3): c.3624dupC (p.Lys1209Glnfs)duplicationPathogenic/ Likely pathogenicrs397516029GRCh37Chr 11, 47354120: 47354120
37MYBPC3NM_ 000256.3(MYBPC3): c.3697C> T (p.Gln1233Ter)SNVPathogenic/ Likely pathogenicrs397516037GRCh37Chr 11, 47353740: 47353740
38MYBPC3NM_ 000256.3(MYBPC3): c.551dupT (p.Lys185Glufs)duplicationPathogenic/ Likely pathogenicrs397516059GRCh37Chr 11, 47371428: 47371428
39MYBPC3NM_ 000256.3(MYBPC3): c.772G> A (p.Glu258Lys)SNVPathogenic/ Likely pathogenicrs397516074GRCh37Chr 11, 47369975: 47369975
40MYBPC3NM_ 000256.3(MYBPC3): c.821+5G> ASNVPathogenic/ Likely pathogenicrs397516077GRCh37Chr 11, 47369403: 47369403
41MYBPC3NM_ 000256.3(MYBPC3): c.913_ 914delTT (p.Phe305Profs)deletionPathogenic/ Likely pathogenicrs397516080GRCh37Chr 11, 47368190: 47368191
42MYBPC3NM_ 000256.3(MYBPC3): c.1469G> T (p.Gly490Val)SNVPathogenicrs397514752GRCh37Chr 11, 47364284: 47364284
43MYBPC3NM_ 000256.3(MYBPC3): c.3330+5G> ASNVPathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
44MYBPC3NM_ 000256.3(MYBPC3): c.3742_ 3759dup18 (p.Cys1253_ Arg1254insGlyGlyIleTyrValCys)duplicationPathogenic/ Likely pathogenicrs193922384GRCh38Chr 11, 47332127: 47332144
45MYBPC3NM_ 000256.3(MYBPC3): c.1624G> C (p.Glu542Gln)SNVPathogenic/ Likely pathogenicrs121909374GRCh37Chr 11, 47364129: 47364129
46MYBPC3NM_ 000256.3(MYBPC3): c.2309-26A> GSNVPathogenicrs886041030GRCh37Chr 11, 47359371: 47359371
47MYBPC3NM_ 000256.3(MYBPC3): c.3659_ 3662delACCTinsTTCAAGAATGGC (p.Asp1220Valfs)indelPathogenicrs886041031GRCh37Chr 11, 47353775: 47353778
48MYBPC3NM_ 000256.3(MYBPC3): c.175A> G (p.Thr59Ala)SNVPathogenicrs121909375GRCh37Chr 11, 47372907: 47372907
49MYBPC3NM_ 000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter)SNVPathogenic/ Likely pathogenicrs121909377GRCh37Chr 11, 47354789: 47354789
50MYBPC3NM_ 000256.3(MYBPC3): c.906-1G> CSNVPathogenicrs587776700GRCh38Chr 11, 47347030: 47347030
51MYBPC3NM_ 000256.3(MYBPC3): c.3330+2T> GSNVPathogenic/ Likely pathogenicrs387906397GRCh37Chr 11, 47354743: 47354743

Expression for genes affiliated with Cardiomyopathy, Hypertrophic, 4

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

Pathways for genes affiliated with Cardiomyopathy, Hypertrophic, 4

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GO Terms for genes affiliated with Cardiomyopathy, Hypertrophic, 4

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

idNameGO IDScoreTop Affiliating Genes
1myosin filamentGO:00329829.5MYBPC1, MYBPC2, MYBPC3
2muscle myosin complexGO:00058599.4MYBPC1, MYBPC2, TTN
3M bandGO:00314309.0MYBPC1, MYBPC2, MYBPC3, TTN
4Z discGO:00300188.4MYBPC1, MYBPC2, MYBPC3, TTN

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle contractionGO:006004810.2MYBPC3, TTN
2actin filament organizationGO:00070159.6MYBPC1, MYBPC2, MYBPC3
3cell adhesionGO:00071559.5MYBPC1, MYBPC2, MYBPC3
4muscle contractionGO:00069369.3MYBPC1, MYBPC2, TTN
5striated muscle myosin thick filament assemblyGO:00716888.9MYBPC1, MYBPC2, MYBPC3
6muscle filament slidingGO:00300498.9MYBPC1, MYBPC2, MYBPC3, TTN
7sarcomere organizationGO:00452148.8MYBPC1, MYBPC2, MYBPC3, TTN
8striated muscle contractionGO:00069418.6MYBPC1, MYBPC2, MYBPC3, TTN

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

idNameGO IDScoreTop Affiliating Genes
1titin bindingGO:00314329.4MYBPC1, MYBPC3
2actin filament bindingGO:00510158.9MYBPC1, MYBPC2, MYBPC3, TTN
3muscle alpha-actinin bindingGO:00513718.9MYBPC1, MYBPC2, MYBPC3, TTN
4structural constituent of muscleGO:00083078.8MYBPC1, MYBPC2, MYBPC3, TTN
5structural molecule activity conferring elasticityGO:00974938.7MYBPC1, MYBPC2, MYBPC3, TTN

Sources for Cardiomyopathy, Hypertrophic, 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet