Aliases & Classifications for Central Core Myopathy

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Aliases & Descriptions for Central Core Myopathy:

Name: Central Core Myopathy 10 12 65
Myopathy, Central Core 36
 
Central Core Disease 10

Classifications:



External Ids:

Disease Ontology10 DOID:3529
ICD1027 G71.2
SNOMED-CT59 43152001
MeSH36 D020512
NCIt42 C83010
UMLS65 C0751951

Summaries for Central Core Myopathy

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MalaCards based summary: Central Core Myopathy, also known as myopathy, central core, is related to central core disease and prostate lymphoma. An important gene associated with Central Core Myopathy is RYR1 (Ryanodine Receptor 1), and among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Cardiac muscle contraction. Affiliated tissues include amygdala and brain, and related mouse phenotypes are skeleton and behavior/neurological.

Related Diseases for Central Core Myopathy

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Graphical network of the top 20 diseases related to Central Core Myopathy:



Diseases related to central core myopathy

Symptoms for Central Core Myopathy

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Drugs & Therapeutics for Central Core Myopathy

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Drugs for Central Core Myopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineexperimentalPhase 368951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
2Calcium, DietaryPhase 34678
3Neurotransmitter AgentsPhase 314795
4OnabotulinumtoxinAPhase 3588
5Peripheral Nervous System AgentsPhase 318510
6IncobotulinumtoxinAPhase 3599
7Neuromuscular AgentsPhase 3922
8AbobotulinumtoxinAPhase 3588
9Botulinum Toxins, Type APhase 3588
10Botulinum ToxinsPhase 3616
11Cholinergic AgentsPhase 33243
12
Ganciclovirapproved, investigationalPhase 1, Phase 214082410-32-03454
Synonyms:
106931-35-5
107910-75-8 (mono-hydrochloride salt)
2'-NDG
2'-Nor-2'-deoxyguanosine
2-(6-Amino-purin-9-ylmethoxy)-propane-1,3-diol
2-Amino-1,9-((2-hydroxy-1-(hydroxymethyl)ethoxy)methyl)-6-H-purin-6-one
2-Amino-9-(2-hydroxy-1-hydroxymethyl-ethoxymethyl)-1,9-dihydro-purin-6-one
2-amino-9-((1,3-Dihydroxypropan-2-yloxy)methyl)-1H-purin-6(9H)-one
2-amino-9-((1,3-Dihydroxypropan-2-yloxy)methyl)-3H-purin-6(9H)-one
2-amino-9-((1,3-Dihydroxypropan-2-yloxy)methyl)-9H-purin-6-ol
2-amino-9-((1,3-dihydroxypropan-2-yloxy)methyl)-1H-purin-6(9H)-one
2-amino-9-((1,3-dihydroxypropan-2-yloxy)methyl)-3H-purin-6(9H)-one
2-amino-9-((1,3-dihydroxypropan-2-yloxy)methyl)-9H-purin-6-ol
2-amino-9-(1,3-dihydroxypropan-2-yloxymethyl)-3H-purin-6-one
2-amino-9-(2-Hydroxy-1-hydroxymethylethoxymethyl)-6,9-dihydro-1H-6-purinone
2-amino-9-(2-hydroxy-1-hydroxymethylethoxymethyl)-6,9-dihydro-1H-6-purinone
2-amino-9-{[(1,3-dihydroxypropan-2-yl)oxy]methyl}-1,9-dihydro-6H-purin-6-one
2-amino-9-{[(1,3-dihydroxypropan-2-yl)oxy]methyl}-6,9-dihydro-3H-purin-6-one
82410-32-0
86357-12-2
9-((1,3-Dihydroxy-2-propoxy)methyl)guanine
9-((2-Hydroxy-1-(hydroxymethyl)ethoxy)methyl)guanine
9-(1,3-DIHYDROXY-PROPOXYMETHANE)GUANINE
9-[(1,3-Dihydroxy-2-propoxy)methyl]guanine
9-[(1,3-dihydroxy-2-propoxy)methyl]guanine
96551-29-0
AC-12604
AC1L1FZ2
AC1Q52OB
AKOS004119898
BB_NC-1042
BIDD:GT0783
BIOLF-62
BPBio1_000877
BSPBio_000797
BW 759
BW 759U
BW-759U
BW-795
BW-B 759U
Biolf 62
CAS-82410-32-0
CCRIS 9212
CHEBI:465284
CHEMBL182
CID3454
CPD000058324
Citovirax
Cymevan
Cymeven
Cymevene
Cytovene
Cytovene (TN)
Cytovene IV
Cytovene-IV
D00333
DB01004
DRG-0018
EU-0100539
 
G 2536
G2536_SIGMA
GA2
GANCICLOVIR SODIUM
GCV & 1110U81
GCV & MSL
Ganciclovir
Ganciclovir & C34-dgA immunotoxin
Ganciclovir & D5-dgA immunotoxin
Ganciclovir (JAN/USP/INN)
Ganciclovir Sodium
Ganciclovir [USAN:INN:BAN:JAN]
Ganciclovirum
Ganciclovirum [Latin]
Gancyclovir
Guanine, 9-((2-hydroxy-1-(hydroxymethyl)ethoxy)methyl)- and MSL, neutralizing monoclonal antibody
HHEMG
HMS1570H19
HMS2090K08
HSDB 6512
Hydroxyacyclovir
I07-0010
IN1478
LS-73939
Lopac-G-2536
Lopac0_000539
MB3795
MLS000028481
MLS001077349
MolPort-000-758-398
MolPort-002-507-301
NCGC00015471-01
NCGC00015471-02
NCGC00015471-03
NCGC00015471-06
NCGC00093928-01
NCGC00093928-02
NCGC00168567-01
PDSP1_000816
PDSP2_000803
Prestwick0_000839
Prestwick1_000839
Prestwick2_000839
Prestwick3_000839
Prestwick_1068
RS-21592
SAM002548936
SMP2_000038
SMR000058324
SPBio_002718
ST-605
STK801910
UNII-P9G3CKZ4P5
Virgan
Vitrasert
Vitrasert (TN)
ZINC00001505
Zirgan
ganciclovir
nchembio.87-comp3
13
Valganciclovirapproved, investigationalPhase 1, Phase 276175865-60-864147
Synonyms:
175865-60-8
5-Amino-3-[1-(hydroxymethyl)-2-(L-valyloxy)ethoxymethyl]-6,7-dihydro-3H-imidazo[4,5-d]pyrimidin-7-one
AC1L20JF
AC1Q63EV
C14H22N6O5
CID64147
Cymeval
D02495
DB01610
I06-1704
L-Valine, 2-((2-amino-1,6-dihydro-6-oxo-9H-purin-9-yl)methoxy)-3-hydroxypropyl ester
 
L-Valine, ester with ganciclovir
L-valine, ester with ganciclovir
LS-173677
NCGC00168779-01
RO1079070/194
RS 79070
UNII-GCU97FKN3R
Valcyte
Valganciclovir
Valganciclovir (INN)
Valganciclovir (Oral)
Valganciclovir [INN:BAN]
[2-[(2-amino-6-oxo-3H-purin-9-yl)methoxy]-3-hydroxypropyl] (2S)-2-amino-3-methylbutanoate
14Ganciclovir triphosphatePhase 1, Phase 2140
15ImmunoglobulinsPhase 1, Phase 24477
16AntibodiesPhase 1, Phase 24477
17Antiviral AgentsPhase 1, Phase 28071
18Anti-Infective AgentsPhase 1, Phase 217220
19
Prednisoneapproved126753-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
Juvason
 
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Perrigo Prednisone
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rayos
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
20
Azathioprineapproved153446-86-62265
Synonyms:
446-86-6
55774-33-9 (hydrochloride salt)
6-((1-Methyl-4-nitro-1H-imidazol-5-yl)thio)-1H-purine
6-((1-Methyl-4-nitroimidazol-5-yl)thio)purine
6-(1'-Methyl-4'-nitro-5'-imidazolyl)-mercaptopurine
6-(1'-Methyl-4'-nitro-5'-imidazolyl)mercaptopurine
6-(1-Methyl-4-nitroimidazol-5-yl)thiopurine
6-(1-Methyl-4-nitroimidazol-5-ylthio)purin
6-(1-Methyl-4-nitroimidazol-5-ylthio)purin [Czech]
6-(1-Methyl-p-nitro-5-imidazolyl)-thiopurine
6-(1-Methyl-p-nitro-5-imidazolyl)thiopurine
6-(3-Methyl-5-nitro-3H-imidazol-4-ylsulfanyl)-7H-purine
6-(3-methyl-5-nitroimidazol-4-yl)sulfanyl-7H-purine
6-(Methyl-p-nitro-5-imidazolyl)-thiopurine
6-(Methyl-p-nitro-5-imidazolyl)thiopurine
6-({4-nitro-1-methyl-1H-imidazol-5-yl}sulfanyl)-7H-purine
6-1'-Methyl,4'-nitro,5'-imidazolyl mercaptopurine
6-[(1-Methyl-4-nitroimidazol-5-yl)- thio] purine
6-[(1-Methyl-4-nitroimidazol-5-yl)thio]purine
6-[(1-methyl-4-nitro-1H-imidazol-5-yl)sulfanyl]-7H-purine
6-[(1-methyl-4-nitro-1H-imidazol-5-yl)thio]-1H-Purine
6-[(1-methyl-4-nitro-1H-imidazol-5-yl)thio]-7H-purine
6-[(1-methyl-4-nitro-1H-imidazol-5-yl)thio]-9H-purine
A 4638
A2593_SIAL
A4638_SIAL
A4638_SIGMA
AB00443544
AB00443544-03
AC-4230
AC1L1DAL
AC1Q3Z1F
AI-981/34845012
AI3-50290
Azamun
Azamun [Czech]
Azanin
Azasan
Azasan (TN)
Azasan, Imuran, Azamun, BW-57-322, NSC-39084, Azathioprine
Azathioprin
Azathioprine
Azathioprine (JP15/USP/INN)
Azathioprine Sodium
Azathioprine [USAN:INN:BAN:JAN]
Azathioprine sodium
Azathioprinum
Azathioprinum [INN-Latin]
Azathiopurine
Azatioprin
Azatioprina
Azatioprina [INN-Spanish]
Azothioprine
B. W. 57-322
BPBio1_000054
BRD-K32821942-001-05-6
BRD-K60324116-001-01-5
BSPBio_000048
BSPBio_001876
BW 57-322
BW 57322
BW-57-322
C06837
C9H7N7O2S
CAS-446-86-6
CBDivE_013132
CCRIS 62
CHEBI:2948
CHEMBL1542
CID2265
CPD000427366
Ccucol
ChemDiv1_002659
Cytostatics
D00238
DB00993
DivK1c_000586
EINECS 207-175-4
EU-0100027
FT-0083532
HMS1568C10
 
HMS1920E17
HMS2091K19
HMS501N08
HMS594I19
HSDB 7084
IDI1_000586
Immuran
Imuran
Imuran (TN)
Imuran (tn)
Imurek
Imurel
KBio1_000586
KBio2_000464
KBio2_002427
KBio2_003032
KBio2_004995
KBio2_005600
KBio2_007563
KBio3_001376
KBio3_002906
KBioGR_000646
KBioGR_002427
KBioSS_000464
KBioSS_002433
LS-123
Lopac-A-4638
Lopac0_000027
MLS001049307
Methylnitroimidazolylmercaptopurine
MolPort-000-745-914
MolPort-000-764-262
MolPort-003-665-485
Muran
NCGC00015060-01
NCGC00015060-02
NCGC00015060-04
NCGC00015060-12
NCGC00090836-01
NCGC00090836-02
NCGC00090836-03
NCGC00090836-04
NCGC00090836-05
NCGC00090836-06
NCGC00094593-01
NCGC00094593-02
NCGC00094593-03
NCI-C03474
NINDS_000586
NSC 39084
NSC-39084
NSC39084
Oprea1_375441
Oprea1_533384
Oprea1_633462
Prestwick0_000094
Prestwick1_000094
Prestwick2_000094
Prestwick3_000094
Prestwick_41
S1721_Selleck
SAM002589938
SDCCGMLS-0065415.P001
SMR000427366
SPBio_000255
SPBio_001987
SPECTRUM1500133
STK831906
STOCK1S-20293
STOCK1S-27186
Spectrum2_000068
Spectrum3_000308
Spectrum4_000243
Spectrum5_000848
Spectrum_000064
Thiopurine 6-(1-methyl-4-nitroimidazol-5-yl)
UNII-MRK240IY2L
WLN: T56 BM DN FN HNJ IS- ET5N CNJ A1 DNW
ZINC04258316
[Methyl(nitroimidazolyl)mercaptopurine]
azathioprine
azatiopr in
cMAP_000046
21
Methotrexateapproved14441959-05-2, 59-05-2126941
Synonyms:
4-amino-10-methylfolic acid
4-amino-N(10)-Methylpteroylglutamic acid
Abitrexate
Amethopterin
Amethopterine
Antifolan
Arbitrexate
Emtexate
Folex
HDMTX
L-Amethopterin
Ledertrexate
MTX
Metatrexan
Methopterin
Methotextrate
 
Methotrate
Methotrexat
Methotrexate
Methotrexate Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metoject
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Otrexup
Rasuvo
Rheumatrex
Rheumatrex Dose Pack
Trexall
22Immunologic Factors18483
23Immunosuppressive Agents10422

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal SpasticityRecruitingNCT01786005Phase 4
2Safety and Efficacy of Two Concurrent Injections of AA4500 in Adult Subjects With Multiple Dupuytren's ContracturesCompletedNCT01674634Phase 3
3A Study to Evaluate the Botulinum Toxin Type A for Injection(HengLi®) in Subjects With Post-stroke Upper Limb SpasticityEnrolling by invitationNCT02280083Phase 3
4Phase 2a Dose-Ranging Study to Evaluate Safety and Effectiveness of AA4500 in Treatment of Dupuytren's Disease NodulesCompletedNCT02193828Phase 2
5Valganciclovir (Valcyte) for Chronic Fatigue Syndrome Patients Who Have Elevated Antibody Titers Against Human Herpes Virus 6 (HHV-6)and Epstein-Barr Virus (EBV)Active, not recruitingNCT00478465Phase 1, Phase 2
6Efficacy and Tolerability of BAF312 in Patients With Polymyositis and DermatomyositisTerminatedNCT01148810Phase 2
7Ultrasound in Muscle BiopsyCompletedNCT01790178
8Randomized Controlled Trial Comparing Traditional Pelvic Floor Rehabilitation to Pilates in Increasing Pelvic Muscles Strength.CompletedNCT00549458
9Outcome in Patients With Recent Onset Polymyositis and DermatomyositisCompletedNCT01813617
10CORRECT: COmmunity RegistRy Study Evaluating Dupuytren's Contracture TreatmentCompletedNCT01715467
11A Pilot Study of Amygdala Retraining Program in Patients With Chronic Fatigue Syndrome, Chronic Fatigue and FibromyalgiaCompletedNCT01046370
12Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
13Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
14A Stepped-care Model of Tailored Behavioural Medicine Pain Intervention in Primary CareNot yet recruitingNCT01992770
15Whole Body Hyperthermia Registry StudyTerminatedNCT02174003

Search NIH Clinical Center for Central Core Myopathy


Cochrane evidence based reviews: myopathy, central core

Genetic Tests for Central Core Myopathy

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Anatomical Context for Central Core Myopathy

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MalaCards organs/tissues related to Central Core Myopathy:

33
Amygdala, Brain

Animal Models for Central Core Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Central Core Myopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.1CACNA1S, NEB, QDPR, RYR1, SEPN1
2MP:00053867.6CACNA1S, NEB, RYR1, RYR2, RYR3, SEPN1
3MP:00053787.2CACNA1S, CASQ1, NEB, RYR1, RYR2, SEPN1
4MP:00053696.9CACNA1S, CASQ1, NEB, RYR1, RYR2, RYR3

Publications for Central Core Myopathy

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Articles related to Central Core Myopathy:

idTitleAuthorsYear
1
Burkitt Lymphoma Presented as Acute Lower Back Pain and Revealed by 18F-NaF PET/CT. (26825214)
2016
2
A bioelectronic system for insulin release triggered by ketone body mimicking diabetic ketoacidosis in vitro. (25846235)
2015
3
Brain region specific pre-synaptic and post-synaptic degeneration are early components of neuropathology in prion disease. (23383030)
2013
4
Fatal granulomatous bronchopneumonia complicated by acute renal failure. (12190246)
2002

Variations for Central Core Myopathy

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Clinvar genetic disease variations for Central Core Myopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RYR1NM_000540.2(RYR1): c.487C> T (p.Arg163Cys)single nucleotide variantPathogenic, risk factorrs118192161GRCh37Chr 19, 38934851: 38934851
2RYR1NM_000540.2(RYR1): c.7373G> A (p.Arg2458His)single nucleotide variantPathogenic, risk factorrs121918594GRCh37Chr 19, 38991295: 38991295
3RYR1NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys)single nucleotide variantPathogenic, risk factorrs118192175GRCh37Chr 19, 38985204: 38985204
4RYR1NM_000540.2(RYR1): c.6488G> A (p.Arg2163His)single nucleotide variantPathogenic, risk factorrs118192163GRCh37Chr 19, 38985205: 38985205
5RYR1NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr)single nucleotide variantPathogenic, risk factorrs118192170GRCh37Chr 19, 39075629: 39075629
6RYR1NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys)single nucleotide variantPathogenic, risk factorrs118192167GRCh37Chr 19, 39070644: 39070644
7RYR1NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser)single nucleotide variantPathogenic, risk factorrs118192162GRCh37Chr 19, 38945999: 38945999
8RYR1NM_000540.2(RYR1): c.1841G> T (p.Arg614Leu)single nucleotide variantPathogenicrs193922772GRCh38Chr 19, 38457546: 38457546
9RYR1NM_000540.2(RYR1): c.7522C> T (p.Arg2508Cys)single nucleotide variantLikely pathogenic, Pathogenicrs118192178GRCh37Chr 19, 38991538: 38991538

Expression for genes affiliated with Central Core Myopathy

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Search GEO for disease gene expression data for Central Core Myopathy.

Pathways for genes affiliated with Central Core Myopathy

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Pathways related to Central Core Myopathy according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
19.8CACNA1S, RYR1
29.7CACNA1S, RYR2
39.5CASQ1, RYR2
4
Show member pathways
8.8CACNA1S, RYR1, RYR2, RYR3
58.8CACNA1S, RYR1, RYR2, RYR3
6
Show member pathways
8.8CACNA1S, RYR1, RYR2, RYR3
78.8CACNA1S, RYR1, RYR2, RYR3
8
Show member pathways
8.8CACNA1S, RYR1, RYR2, RYR3
98.8CACNA1S, RYR1, RYR2, RYR3
10
Show member pathways
8.8CACNA1S, RYR1, RYR2, RYR3
11
Show member pathways
8.7RYR1, RYR2, RYR3, TRDN
12
Show member pathways
8.3CACNA1S, CASQ1, RYR1, RYR2, RYR3
13
Show member pathways
8.0CACNA1S, QDPR, RYR1, RYR2, RYR3
14
Show member pathways
7.8CACNA1S, NEB, RYR1, RYR2, RYR3, TRDN

GO Terms for genes affiliated with Central Core Myopathy

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Cellular components related to Central Core Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:00303159.3CASQ1, RYR1
2I bandGO:00316749.3CACNA1S, CASQ1, RYR1
3cellGO:00056239.0RYR1, RYR2, RYR3

Biological processes related to Central Core Myopathy according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle fiber developmentGO:004874110.3RYR1, SEPN1
2regulation of cytosolic calcium ion concentrationGO:005148010.1RYR1, RYR2
3calcium ion transmembrane transportGO:00705889.8CACNA1S, RYR1
4release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00148089.7RYR1, RYR2, TRDN
5calcium ion transportGO:00068169.7CACNA1S, RYR1, RYR2
6muscle contractionGO:00069369.6CACNA1S, RYR1, TRDN
7regulation of cardiac conductionGO:19037799.6RYR2, TRDN
8release of sequestered calcium ion into cytosolGO:00512099.4RYR1, RYR2, RYR3
9transmembrane transportGO:00550858.4CACNA1S, CASQ1, RYR1, RYR3

Molecular functions related to Central Core Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calcium channel activityGO:00052629.7RYR1, RYR2

Sources for Central Core Myopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet