MCID: CRD203
MIFTS: 29

Cardiomyopathy, Hypertrophic, 4 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 50
Cardiomyopathy, Familial Hypertrophic 4 68 25
 
Cardiomyopathy, Familial Hypertrophic, 4 12
Cmh4 68

Characteristics:

HPO:

62
cardiomyopathy, hypertrophic, 4:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 115197
MeSH37 D024741

Summaries for Cardiomyopathy, Hypertrophic, 4

About this section
UniProtKB/Swiss-Prot:68 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 hypertrophic cardiomyopathy, and has symptoms including hypertrophic cardiomyopathy An important gene associated with Cardiomyopathy, Hypertrophic, 4 is MYBPC3 (Myosin Binding Protein C, Cardiac). Affiliated tissues include heart.

Description from OMIM:50 115197

Related Diseases for Cardiomyopathy, Hypertrophic, 4

About this section

Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Hypertrophic, 20 Cardiomyopathy, Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 9 Cardiomyopathy, Familial Hypertrophic
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
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

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

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, familial hypertrophic10.1
2hypertrophic cardiomyopathy10.0
3cardiomyopathy10.0

Symptoms for Cardiomyopathy, Hypertrophic, 4

About this section

Symptoms by clinical synopsis from OMIM:

115197

Clinical features from OMIM:

115197

HPO human phenotypes related to Cardiomyopathy, Hypertrophic, 4:

id Description Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 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 all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RanolazinePhase 478142387-99-3, 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
2
MetoprololPhase 419537350-58-6, 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
3
DoxazosinPhase 45674191-85-83157
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-(1,4-benzodioxan-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
 
Doxazosin (INN)
Doxazosin [INN:BAN]
Doxazosin mesilate
Doxazosin mesylate
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
4
CarvedilolPhase 415772956-09-32585
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
5
ChlorthalidonePhase 46177-36-12732
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
6
TadalafilPhase 4145171596-29-5110635
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
7Atorvastatin CalciumPhase 4727134523-03-8
8
SpironolactonePhase 42171952-01-7, 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
9diureticsPhase 41338
10
empagliflozinPhase 4107864070-44-0
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
11
GlimepiridePhase 422293479-97-13476
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
12
DobutaminePhase 411134368-04-236811
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
13carnitineNutraceuticalPhase 4152
14
PerhexilinePhase 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
15calcium channel blockersPhase 31889
16
Maleic acidPhase 3292110-16-7444266
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
17
Menthol21842216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

(show all 21)
idNameStatusNCT IDPhase
1Ranolazine for the Treatment of Chest Pain in HCM PatientsCompletedNCT01721967Phase 4
2Effect of Beta-blockers on Structural Remodeling and Gene Expression in the Failing Human HeartCompletedNCT01798992Phase 4
3Assessment of Wall Thickness in Hypertrophic CardiomyopathyRecruitingNCT02234336Phase 4
4Clinical and Therapeutic Implications of Fibrosis in Hypertrophic CardiomyopathyRecruitingNCT00879060Phase 4
5REmodelling in Diabetic CardiOmapathy: Gender Response to PDE5i InhibiTOrsRecruitingNCT01803828Phase 4
6Effects of Spironolactone in DialysisRecruitingNCT01128101Phase 4
7Comparing the Effects of Spironolactone With Chlortalidone on LV Mass and Arterial Stiffness in Patients With CKDRecruitingNCT02502981Phase 4
8Effects of Atorvastatin Treatment on Left Ventricular Diastolic Function in Peritoneal Dialysis PatientsRecruitingNCT01503671Phase 4
9Identification of Carnitine-Responsive CardiomyopathyNot yet recruitingNCT01904396Phase 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 FailureNot yet recruitingNCT02431221Phase 3
14Neurohormonal Parameters in Hypertrophic CardiomyopathiesCompletedNCT01729702
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
18Comparisonof Extended Myoectomy and Myoectomy by Morrow in Patients With Hypertrophic Obstructive Cardiomyopathy (HOCM)RecruitingNCT02492399
19Reversible Pulmonary Artery Banding as Simplified Management of End-stage Dilated Left Ventriculopathy in Early LifeRecruitingNCT02652676
20Study of Exercise Training in Hypertrophic CardiomyopathyActive, not recruitingNCT01127061
21Fabry's Disease and Pregnancy (PREFAB)Enrolling by invitationNCT02582294

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 4

Genetic Tests for Cardiomyopathy, Hypertrophic, 4

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Genetic tests related to Cardiomyopathy, Hypertrophic, 4:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 425

Anatomical Context for Cardiomyopathy, Hypertrophic, 4

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

34
Heart

Animal Models for Cardiomyopathy, Hypertrophic, 4 or affiliated genes

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Publications for Cardiomyopathy, Hypertrophic, 4

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Variations for Cardiomyopathy, Hypertrophic, 4

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

68 (show all 66)
id Symbol AA change Variation ID SNP ID
1MYBPC3p.Glu542GlnVAR_003917
2MYBPC3p.Arg654HisVAR_003918rs1800565
3MYBPC3p.Asn755LysVAR_003919
4MYBPC3p.His257ProVAR_019889
5MYBPC3p.Glu258LysVAR_019890
6MYBPC3p.Gly278GluVAR_019891rs147315081
7MYBPC3p.Gly279AlaVAR_019892
8MYBPC3p.Leu352ProVAR_019894
9MYBPC3p.Arg502TrpVAR_019895
10MYBPC3p.Lys811ArgVAR_019897
11MYBPC3p.Ala833ValVAR_019898rs3729952
12MYBPC3p.Ala1194ThrVAR_019900
13MYBPC3p.Ala1255ThrVAR_019901
14MYBPC3p.Gln998GluVAR_020574rs11570112
15MYBPC3p.Glu451GlnVAR_027879
16MYBPC3p.Arg495GlnVAR_027880
17MYBPC3p.Arg502GlnVAR_027881
18MYBPC3p.Gly5ArgVAR_029390
19MYBPC3p.Thr59AlaVAR_029391
20MYBPC3p.Pro161SerVAR_029392
21MYBPC3p.Val219LeuVAR_029393
22MYBPC3p.Asp228AsnVAR_029394
23MYBPC3p.Tyr237SerVAR_029395
24MYBPC3p.Val256IleVAR_029396
25MYBPC3p.Arg282TrpVAR_029397
26MYBPC3p.Arg458HisVAR_029399
27MYBPC3p.Gly490ArgVAR_029400
28MYBPC3p.Gly507ArgVAR_029401rs35736435
29MYBPC3p.Gly523TrpVAR_029402
30MYBPC3p.Cys566ArgVAR_029404
31MYBPC3p.Asp604ValVAR_029405
32MYBPC3p.Pro608LeuVAR_029407
33MYBPC3p.Arg668HisVAR_029408
34MYBPC3p.Arg668ProVAR_029409
35MYBPC3p.Arg733CysVAR_029410
36MYBPC3p.Asp770AsnVAR_029411rs36211723
37MYBPC3p.Trp792ArgVAR_029412
38MYBPC3p.Arg810HisVAR_029413
39MYBPC3p.Arg820GlnVAR_029416rs2856655
40MYBPC3p.Ala833ThrVAR_029417
41MYBPC3p.Arg834ThrVAR_029418
42MYBPC3p.Pro873HisVAR_029420
43MYBPC3p.Asn948ThrVAR_029421
44MYBPC3p.Gln998ArgVAR_029422
45MYBPC3p.Arg1002GlnVAR_029423
46MYBPC3p.Pro1003GlnVAR_029425
47MYBPC3p.Phe1113IleVAR_029426
48MYBPC3p.Val1115IleVAR_029427
49MYBPC3p.Gly263ArgVAR_042740
50MYBPC3p.Arg273HisVAR_042741
51MYBPC3p.Ala417SerVAR_042742
52MYBPC3p.Leu669HisVAR_042743
53MYBPC3p.Glu759AspVAR_042744
54MYBPC3p.Arg495GlyVAR_045929
55MYBPC3p.Thr1028SerVAR_045930
56MYBPC3p.Gly1248ArgVAR_045931
57MYBPC3p.Arg272CysVAR_070449
58MYBPC3p.Ile336ValVAR_070450
59MYBPC3p.Gly490ValVAR_070451
60MYBPC3p.Thr957SerVAR_070453
61MYBPC3p.Thr958IleVAR_070454
62MYBPC3p.Glu334LysVAR_074539
63MYBPC3p.Val342AspVAR_074540
64MYBPC3p.Ala627ValVAR_074541
65MYBPC3p.Val771MetVAR_074542
66MYBPC3p.Thr1046MetVAR_074544

Clinvar genetic disease variations for Cardiomyopathy, Hypertrophic, 4:

5 (show all 105)
id Gene Variation Type Significance SNP ID Assembly Location
1MYBPC3NM_000256.3(MYBPC3): c.3190+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs587782958GRCh38Chr 11, 47333552: 47333552
2MYBPC3NM_000256.3(MYBPC3): c.3642G> A (p.Trp1214Ter)single nucleotide variantLikely pathogenic, Pathogenicrs368765949GRCh37Chr 11, 47353795: 47353795
3MYBPC3NM_000256.3(MYBPC3): c.3776delA (p.Gln1259Argfs)deletionLikely pathogenic, Pathogenicrs727503166GRCh37Chr 11, 47353661: 47353661
4MYBPC3NM_000256.3(MYBPC3): c.3605G> A (p.Cys1202Tyr)single nucleotide variantLikely pathogenicrs727503170GRCh38Chr 11, 47332588: 47332588
5MYBPC3NM_000256.3(MYBPC3): c.3288delG (p.Glu1096Aspfs)deletionPathogenicrs727503172GRCh38Chr 11, 47333236: 47333236
6MYBPC3NM_000256.3(MYBPC3): c.3166dupG (p.Ala1056Glyfs)duplicationPathogenicrs727503174GRCh38Chr 11, 47333581: 47333581
7MYBPC3NM_000256.3(MYBPC3): c.3089_3101delTGTTCATCCGGGC (p.Leu1030Profs)deletionLikely pathogenic, Pathogenicrs727503175GRCh37Chr 11, 47355197: 47355209
8MYBPC3NM_000256.3(MYBPC3): c.2920C> T (p.Gln974Ter)single nucleotide variantPathogenicrs727503180GRCh37Chr 11, 47355547: 47355547
9MYBPC3NM_000256.3(MYBPC3): c.1484G> A (p.Arg495Gln)single nucleotide variantLikely pathogenic, Pathogenicrs200411226GRCh38Chr 11, 47342718: 47342718
10MYBPC3NM_000256.3(MYBPC3): c.1357_1358delCC (p.Pro453Cysfs)deletionPathogenicrs727503203GRCh38Chr 11, 47342929: 47342930
11MYBPC3NM_000256.3(MYBPC3): c.844C> T (p.Arg282Trp)single nucleotide variantPathogenicrs727504234GRCh37Chr 11, 47369209: 47369209
12MYBPC3NM_000256.3(MYBPC3): c.1090+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs727504269GRCh37Chr 11, 47367757: 47367757
13MYBPC3NM_000256.3(MYBPC3): c.3600_3609delCTGCTGTGCT (p.Cys1201Serfs)deletionLikely pathogenic, Pathogenicrs727504271GRCh37Chr 11, 47354135: 47354144
14MYBPC3NM_000256.3(MYBPC3): c.1090+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs727504269GRCh37Chr 11, 47367757: 47367757
15MYBPC3NM_000256.3(MYBPC3): c.1038_1042dupCGGCA (p.Met348Thrfs)duplicationPathogenicrs730880336GRCh38Chr 11, 47346255: 47346259
16MYBPC3NM_000256.3(MYBPC3): c.1924C> T (p.Gln642Ter)single nucleotide variantLikely pathogenic, Pathogenicrs727504293GRCh37Chr 11, 47362557: 47362557
17MYBPC3NM_000256.3(MYBPC3): c.2737+1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs727504314GRCh37Chr 11, 47357427: 47357427
18MYBPC3NM_000256.3(MYBPC3): c.3476_3477delTT (p.Phe1159Tyrfs)deletionPathogenicrs727504321GRCh37Chr 11, 47354378: 47354379
19MYBPC3NM_000256.3(MYBPC3): c.3190+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs111683277GRCh37Chr 11, 47355107: 47355107
20MYBPC3NM_000256.3(MYBPC3): c.1000G> T (p.Glu334Ter)single nucleotide variantLikely pathogenic, Pathogenicrs573916965GRCh37Chr 11, 47367848: 47367848
21MYBPC3NM_000256.3(MYBPC3): c.2394dupT (p.Gly799Trpfs)duplicationLikely pathogenic, Pathogenicrs730880341GRCh37Chr 11, 47359260: 47359260
22MYBPC3NM_000256.3(MYBPC3): c.821+1G> Csingle nucleotide variantPathogenicrs397516073GRCh37Chr 11, 47369407: 47369407
23MYBPC3NM_000256.3(MYBPC3): c.2391C> A (p.Tyr797Ter)single nucleotide variantLikely pathogenic, Pathogenicrs727504864GRCh38Chr 11, 47337712: 47337712
24MYBPC3NM_000256.3(MYBPC3): c.1227-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs730880531GRCh38Chr 11, 47343147: 47343147
25MYBPC3NM_000256.3(MYBPC3): c.484C> T (p.Gln162Ter)single nucleotide variantPathogenicrs730880618GRCh38Chr 11, 47350035: 47350035
26MYBPC3NM_000256.3(MYBPC3): c.1358dupC (p.Val454Cysfs)duplicationLikely pathogenic, Pathogenicrs730880711GRCh38Chr 11, 47342929: 47342929
27MYBPC3NM_000256.3(MYBPC3): c.179_180delAG (p.Glu60Glyfs)deletionPathogenicrs786204324GRCh38Chr 11, 47351351: 47351352
28MYBPC3NM_000256.3(MYBPC3): c.506-1G> Csingle nucleotide variantLikely pathogenicrs397516056GRCh37Chr 11, 47371474: 47371474
29MYBPC3NM_000256.3(MYBPC3): c.541_542dupGC (p.Ser182Profs)duplicationLikely pathogenicrs786204327GRCh37Chr 11, 47371437: 47371438
30MYBPC3NM_000256.3(MYBPC3): c.655G> T (p.Val219Phe)single nucleotide variantLikely pathogenicrs397516068GRCh38Chr 11, 47348541: 47348541
31MYBPC3NM_000256.3(MYBPC3): c.676_701dup26 (p.Gly235Serfs)duplicationPathogenicrs786204329GRCh37Chr 11, 47370046: 47370071
32MYBPC3NM_000256.3(MYBPC3): c.779delT (p.Met260Argfs)deletionLikely pathogenicrs786204332GRCh37Chr 11, 47369450: 47369450
33MYBPC3NM_000256.3(MYBPC3): c.1351G> T (p.Glu451Ter)single nucleotide variantLikely pathogenicrs786204338GRCh37Chr 11, 47364572: 47364572
34MYBPC3NM_000256.3(MYBPC3): c.1377delC (p.Leu460Trpfs)deletionLikely pathogenicrs786204339GRCh38Chr 11, 47342910: 47342910
35MYBPC3NM_000256.3(MYBPC3): c.1513A> T (p.Lys505Ter)single nucleotide variantLikely pathogenicrs786204340GRCh37Chr 11, 47364240: 47364240
36MYBPC3NM_000256.3(MYBPC3): c.1625-27_1691deldeletionLikely pathogenicGRCh38Chr 11, 47342090: 47342183
37MYBPC3NM_000256.3(MYBPC3): c.1999_2000delCTinsA (p.Leu667Asnfs)indelPathogenicrs727503192GRCh38Chr 11, 47339718: 47339719
38MYBPC3NM_000256.3(MYBPC3): c.2846dupT (p.Met949Ilefs)duplicationLikely pathogenicrs786204352GRCh37Chr 11, 47356652: 47356652
39MYBPC3NM_000256.3(MYBPC3): c.3491-2A> Gsingle nucleotide variantLikely pathogenicrs397516022GRCh38Chr 11, 47332704: 47332704
40MYBPC3NM_000256.3(MYBPC3): c.3763delG (p.Ala1255Profs)deletionLikely pathogenicrs786204362GRCh37Chr 11, 47353674: 47353674
41NM_000256.3(MYBPC3): c.-2053_*2307deldeletionLikely pathogenicGRCh37Chr 11, 47350987: 47376251
42MYBPC3NM_000256.3(MYBPC3): c.2065C> T (p.Gln689Ter)single nucleotide variantLikely pathogenic, Pathogenicrs863224483GRCh38Chr 11, 47339653: 47339653
43MYBPC3NM_000256.3(MYBPC3): c.2414-1G> Asingle nucleotide variantLikely pathogenicrs863224899GRCh37Chr 11, 47359131: 47359131
44MYBPC3NM_000256.3(MYBPC3): c.1357C> T (p.Pro453Ser)single nucleotide variantLikely pathogenicrs749310275GRCh37Chr 11, 47364481: 47364481
45MYBPC3NM_000256.3(MYBPC3): c.2670dupG (p.Arg891Alafs)duplicationLikely pathogenicrs863225104GRCh37Chr 11, 47357495: 47357495
46MYBPC3NM_000256.3(MYBPC3): c.2550delC (p.Asn850Lysfs)deletionLikely pathogenicrs863225105GRCh38Chr 11, 47337443: 47337443
47MYBPC3NM_000256.3(MYBPC3): c.2371C> T (p.Gln791Ter)single nucleotide variantLikely pathogenicrs863225106GRCh37Chr 11, 47359283: 47359283
48MYBPC3NM_000256.3(MYBPC3): c.3662delT (p.Leu1221Argfs)deletionLikely pathogenicrs863225107GRCh37Chr 11, 47353775: 47353775
49MYBPC3NM_000256.3(MYBPC3): c.306delC (p.Met103Cysfs)deletionLikely pathogenicrs863225109GRCh38Chr 11, 47350602: 47350602
50MYBPC3NM_000256.3(MYBPC3): c.227dupA (p.Ser78Ilefs)duplicationLikely pathogenicrs863225111GRCh37Chr 11, 47372855: 47372855
51MYBPC3NM_000256.3(MYBPC3): c.2376G> A (p.Trp792Ter)single nucleotide variantLikely pathogenicrs863225112GRCh37Chr 11, 47359278: 47359278
52MYBPC3NM_000256.3(MYBPC3): c.3300C> A (p.Tyr1100Ter)single nucleotide variantLikely pathogenicrs863225113GRCh37Chr 11, 47354775: 47354775
53MYBPC3NM_000256.3(MYBPC3): c.3414dupC (p.Val1139Argfs)duplicationLikely pathogenicrs863225114GRCh37Chr 11, 47354441: 47354441
54MYBPC3NM_000256.3(MYBPC3): c.2234A> G (p.Asp745Gly)single nucleotide variantPathogenicrs727503190GRCh37Chr 11, 47360145: 47360145
55MYBPC3NM_000256.3(MYBPC3): c.2618C> A (p.Pro873His)single nucleotide variantLikely pathogenic, Pathogenicrs371401403GRCh37Chr 11, 47357547: 47357547
56MYBPC3NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn)single nucleotide variantLikely pathogenic, Pathogenicrs36211723GRCh37Chr 11, 47360071: 47360071
57MYBPC3NM_000256.3(MYBPC3): c.2827C> T (p.Arg943Ter)single nucleotide variantLikely pathogenic, Pathogenicrs387907267GRCh37Chr 11, 47356671: 47356671
58MYBPC3NM_000256.3(MYBPC3): c.1468G> A (p.Gly490Arg)single nucleotide variantPathogenicrs200625851GRCh37Chr 11, 47364285: 47364285
59MYBPC3NM_000256.3(MYBPC3): c.1483C> G (p.Arg495Gly)single nucleotide variantLikely pathogenic, Pathogenicrs397515905GRCh37Chr 11, 47364270: 47364270
60MYBPC3NM_000256.3(MYBPC3): c.1504C> T (p.Arg502Trp)single nucleotide variantPathogenicrs375882485GRCh37Chr 11, 47364249: 47364249
61MYBPC3NM_000256.3(MYBPC3): c.1505G> A (p.Arg502Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397515907GRCh37Chr 11, 47364248: 47364248
62MYBPC3NM_000256.3(MYBPC3): c.1624+4A> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs397515916GRCh37Chr 11, 47364125: 47364125
63MYBPC3NM_000256.3(MYBPC3): c.177_187delAGAGGGCACAC (p.Glu60Alafs)deletionPathogenicrs397515925GRCh37Chr 11, 47372895: 47372905
64MYBPC3NM_000256.3(MYBPC3): c.1928-2A> Gsingle nucleotide variantPathogenicrs397515937GRCh37Chr 11, 47361343: 47361343
65MYBPC3NM_000256.3(MYBPC3): c.2163delC (p.Glu722Argfs)deletionPathogenicrs397515952GRCh37Chr 11, 47360216: 47360216
66MYBPC3NM_000256.3(MYBPC3): c.2182G> T (p.Glu728Ter)single nucleotide variantPathogenicrs397515954GRCh37Chr 11, 47360197: 47360197
67MYBPC3NM_000256.3(MYBPC3): c.2309-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs111729952GRCh37Chr 11, 47359347: 47359347
68MYBPC3NM_000256.3(MYBPC3): c.2373dupG (p.Trp792Valfs)duplicationPathogenicrs397515963GRCh37Chr 11, 47359281: 47359281
69MYBPC3NM_000256.3(MYBPC3): c.2541C> G (p.Tyr847Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397515974GRCh37Chr 11, 47359003: 47359003
70MYBPC3NM_000256.3(MYBPC3): c.2558delG (p.Gly853Alafs)deletionPathogenicrs397515977GRCh37Chr 11, 47358986: 47358986
71MYBPC3NM_000256.3(MYBPC3): c.2864_2865delCT (p.Pro955Argfs)deletionLikely pathogenic, Pathogenicrs397515990GRCh37Chr 11, 47356633: 47356634
72MYBPC3NM_000256.3(MYBPC3): c.2905+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397515991GRCh37Chr 11, 47356592: 47356592
73MYBPC3NM_000256.3(MYBPC3): c.3040delC (p.Leu1014Trpfs)deletionLikely pathogenic, Pathogenicrs397515997GRCh37Chr 11, 47355258: 47355258
74MYBPC3NM_000256.3(MYBPC3): c.3192dupC (p.Lys1065Glnfs)duplicationPathogenicrs397516007GRCh37Chr 11, 47354883: 47354883
75MYBPC3NM_000256.3(MYBPC3): c.3226_3227insT (p.Asp1076Valfs)insertionPathogenicrs397516008GRCh37Chr 11, 47354848: 47354849
76MYBPC3NM_000256.3(MYBPC3): c.3330+5G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
77MYBPC3NM_000256.3(MYBPC3): c.3330+5G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
78MYBPC3NM_000256.3(MYBPC3): c.3490+1G> Asingle nucleotide variantPathogenicrs397516020GRCh37Chr 11, 47354364: 47354364
79MYBPC3NM_000256.3(MYBPC3): c.3491-2A> Tsingle nucleotide variantPathogenicrs397516022GRCh37Chr 11, 47354255: 47354255
80MYBPC3NM_000256.3(MYBPC3): c.3599T> C (p.Leu1200Pro)single nucleotide variantLikely pathogenicrs397516028GRCh37Chr 11, 47354145: 47354145
81MYBPC3NM_000256.3(MYBPC3): c.3624dupC (p.Lys1209Glnfs)duplicationLikely pathogenic, Pathogenicrs397516029GRCh37Chr 11, 47354120: 47354120
82MYBPC3NM_000256.3(MYBPC3): c.3697C> T (p.Gln1233Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516037GRCh37Chr 11, 47353740: 47353740
83MYBPC3NM_000256.3(MYBPC3): c.459delC (p.Ile154Leufs)deletionLikely pathogenic, Pathogenicrs397516052GRCh37Chr 11, 47371611: 47371611
84MYBPC3NM_000256.3(MYBPC3): c.551dupT (p.Lys185Glufs)duplicationLikely pathogenic, Pathogenicrs397516059GRCh37Chr 11, 47371428: 47371428
85MYBPC3NM_000256.3(MYBPC3): c.772+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397516072GRCh37Chr 11, 47369974: 47369974
86MYBPC3NM_000256.3(MYBPC3): c.821+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397516073GRCh37Chr 11, 47369407: 47369407
87MYBPC3NM_000256.3(MYBPC3): c.772G> A (p.Glu258Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397516074GRCh37Chr 11, 47369975: 47369975
88MYBPC3NM_000256.3(MYBPC3): c.821+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397516077GRCh37Chr 11, 47369403: 47369403
89MYBPC3NM_000256.3(MYBPC3): c.913_914delTT (p.Phe305Profs)deletionLikely pathogenic, Pathogenicrs397516080GRCh37Chr 11, 47368190: 47368191
90MYBPC3NM_000256.3(MYBPC3): c.927-9G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397516083GRCh37Chr 11, 47367930: 47367930
91MYBPC3NM_000256.3(MYBPC3): c.1469G> T (p.Gly490Val)single nucleotide variantPathogenicrs397514752GRCh37Chr 11, 47364284: 47364284
92MYBPC3NM_000256.3(MYBPC3): c.3330+5G> Asingle nucleotide variantPathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
93MYBPC3NM_000256.3(MYBPC3)duplicationLikely pathogenic, Pathogenicrs193922384GRCh38Chr 11, 47332127: 47332144
94MYBPC3NM_000256.3(MYBPC3): c.3373G> A (p.Val1125Met)single nucleotide variantPathogenicrs121909378GRCh37Chr 11, 47354482: 47354482
95MYBPC3NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln)single nucleotide variantLikely pathogenic, Pathogenicrs121909374GRCh37Chr 11, 47364129: 47364129
96MYBPC3MYBPC3, IVS23, G-A, +1single nucleotide variantPathogenic
97MYBPC3MYBPC3, BRANCH POINT, IVS23, A-G, TGAT-TGGTsingle nucleotide variantPathogenic
98MYBPC3MYBPC3, 5-BP DEL, EX25deletionPathogenic
99MYBPC3MYBPC3, 12-BP DUP/4-BP DEL, EX33duplicationPathogenic
100MYBPC3MYBPC3, 1-BP INS, 2405GinsertionPathogenic
101MYBPC3NM_000256.3(MYBPC3): c.175A> G (p.Thr59Ala)single nucleotide variantPathogenicrs121909375GRCh37Chr 11, 47372907: 47372907
102MYBPC3NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121909377GRCh37Chr 11, 47354789: 47354789
103MYBPC3NM_000256.3(MYBPC3): c.2459G> A (p.Arg820Gln)single nucleotide variantLikely pathogenic, Pathogenicrs2856655GRCh37Chr 11, 47359085: 47359085
104MYBPC3NM_000256.3(MYBPC3): c.906-1G> Csingle nucleotide variantPathogenicrs587776700GRCh38Chr 11, 47347030: 47347030
105MYBPC3NM_000256.3(MYBPC3): c.3330+2T> Gsingle nucleotide variantLikely pathogenic, 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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Sources for Cardiomyopathy, Hypertrophic, 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet