MCID: CRD196
MIFTS: 26

Cardiomyopathy, Hypertrophic, 8 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 8

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Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 8:

Name: Cardiomyopathy, Hypertrophic, 8 50
Cardiomyopathy, Familial Hypertrophic 8 68 25
Familial Hypertrophic Cardiomyopathy with Mid-Left Ventricular Chamber Type 1 68
 
Cardiomyopathy, Familial Hypertrophic, 8 12
Cmh8 68
Mvc1 68

Characteristics:

HPO:

62
cardiomyopathy, hypertrophic, 8:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 608751
MedGen35 C1837471
MeSH37 D024741

Summaries for Cardiomyopathy, Hypertrophic, 8

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UniProtKB/Swiss-Prot:68 Cardiomyopathy, familial hypertrophic 8: 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. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening.

MalaCards based summary: Cardiomyopathy, Hypertrophic, 8, also known as cardiomyopathy, familial hypertrophic 8, is related to cardiomyopathy, familial hypertrophic, and has symptoms including hypertrophic cardiomyopathy, restrictive cardiomyopathy and endocardial fibrosis. An important gene associated with Cardiomyopathy, Hypertrophic, 8 is MYL3 (Myosin Light Chain 3). Affiliated tissues include heart.

Description from OMIM:50 608751

Related Diseases for Cardiomyopathy, Hypertrophic, 8

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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, 8 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, familial hypertrophic10.0

Symptoms for Cardiomyopathy, Hypertrophic, 8

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Clinical features from OMIM:

608751

HPO human phenotypes related to Cardiomyopathy, Hypertrophic, 8:

id Description Frequency HPO Source Accession
1 hypertrophic cardiomyopathy HP:0001639
2 restrictive cardiomyopathy HP:0001723
3 endocardial fibrosis HP:0006685

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 8

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Drugs for Cardiomyopathy, Hypertrophic, 8 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
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
2
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
3
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
4
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
5diureticsPhase 41338
6
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
7
PerhexilinePhase 286621-47-24746
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
8calcium channel blockersPhase 21889
9carnitineNutraceuticalPhase 2152

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effect of Beta-blockers on Structural Remodeling and Gene Expression in the Failing Human HeartCompletedNCT01798992Phase 4
2Comparing the Effects of Spironolactone With Chlortalidone on LV Mass and Arterial Stiffness in Patients With CKDRecruitingNCT02502981Phase 4
3Open-Label Study of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart FailureRecruitingNCT02862600Phase 2
4Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic CardiomyopathyWithdrawnNCT01556568Phase 2

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 8

Genetic Tests for Cardiomyopathy, Hypertrophic, 8

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Genetic tests related to Cardiomyopathy, Hypertrophic, 8:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 825

Anatomical Context for Cardiomyopathy, Hypertrophic, 8

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MalaCards organs/tissues related to Cardiomyopathy, Hypertrophic, 8:

34
Heart

Animal Models for Cardiomyopathy, Hypertrophic, 8 or affiliated genes

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Publications for Cardiomyopathy, Hypertrophic, 8

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Variations for Cardiomyopathy, Hypertrophic, 8

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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Hypertrophic, 8:

68
id Symbol AA change Variation ID SNP ID
1MYL3p.Met149ValVAR_004599rs104893748
2MYL3p.Arg154HisVAR_004600rs104893749
3MYL3p.Glu56GlyVAR_019842rs199474702
4MYL3p.Glu143LysVAR_019843rs104893750
5MYL3p.Glu177GlyVAR_073726rs193922391

Clinvar genetic disease variations for Cardiomyopathy, Hypertrophic, 8:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYL3NM_000258.2(MYL3): c.445A> G (p.Met149Val)single nucleotide variantPathogenicrs104893748GRCh37Chr 3, 46901001: 46901001
2MYL3NM_000258.2(MYL3): c.461G> A (p.Arg154His)single nucleotide variantLikely pathogenic, Pathogenicrs104893749GRCh37Chr 3, 46900985: 46900985

Expression for genes affiliated with Cardiomyopathy, Hypertrophic, 8

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Search GEO for disease gene expression data for Cardiomyopathy, Hypertrophic, 8.

Pathways for genes affiliated with Cardiomyopathy, Hypertrophic, 8

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GO Terms for genes affiliated with Cardiomyopathy, Hypertrophic, 8

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Sources for Cardiomyopathy, Hypertrophic, 8

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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