MCID: CNT009
MIFTS: 46

Central Core Myopathy

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Central Core Myopathy

MalaCards integrated aliases for Central Core Myopathy:

Name: Central Core Myopathy 12 29 6 15 17 71
Myopathy, Central Core 43
Central Core Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3529
MeSH 43 D020512
NCIt 49 C83010
SNOMED-CT 67 43152001
ICD10 32 G71.2
UMLS 71 C0751951

Summaries for Central Core Myopathy

MalaCards based summary : Central Core Myopathy, also known as myopathy, central core, is related to central core disease of muscle and multiminicore disease, and has symptoms including generalized muscle weakness An important gene associated with Central Core Myopathy is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Beta-Adrenergic Signaling. The drugs Acetylcysteine and Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and testes, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Central Core Myopathy

Diseases in the Central Core Myopathy family:

Congenital Myopathy with Cores

Diseases related to Central Core Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 central core disease of muscle 33.6 SELENON RYR2 RYR1 NEB CACNA1S
2 multiminicore disease 30.8 SELENON RYR1
3 malignant hyperthermia susceptibility 30.2 RYR1 CASQ1 CACNA1S
4 hypokalemic periodic paralysis, type 1 30.0 RYR1 QDPR CACNA1S
5 nemaline myopathy 3 29.0 NEB KLHL40 KBTBD13 ACTA1
6 respiratory failure 28.7 SELENON RYR1 MYH7 KLHL40 ACTA1
7 myopathy, congenital 28.3 SELENON RYR1 NEB MYH7 MTM1 DNM2
8 catecholaminergic polymorphic ventricular tachycardia 28.2 TRDN RYR3 RYR2 RYR1 MYH7 FKBP1B
9 congenital myasthenic syndrome 28.0 SELENON RYR2 RYR1 MTM1 KLHL40 FKBP1B
10 hypertrophic cardiomyopathy 28.0 RYR2 MYH7 FKBP1B CACNA1S ATP2A1 ACTA1
11 centronuclear myopathy 27.6 SELENON RYR1 NEB MTM1 KLHL40 KBTBD13
12 muscular dystrophy 27.5 TRDN SELENON RYR2 RYR1 NEB MYH7
13 neuromuscular disease 27.2 RYR2 RYR1 NEB MYH7 MTM1 DNM2
14 myopathy 26.1 SELENON RYR3 RYR2 RYR1 NEB MYH7
15 malignant hyperthermia 25.6 TRDN SELENON RYR3 RYR2 RYR1 QDPR
16 malignant hyperthermia 1 11.5
17 skeletal muscle disease 10.4 RYR1 CASQ1
18 myopathy, congenital, bailey-bloch 10.3 SELENON RYR1 CACNA1S
19 scapuloperoneal syndrome, neurogenic, kaeser type 10.3 SELENON NEB
20 congenital myopathy with cores 10.3 RYR1 ACTA1
21 myopathy, centronuclear, 6, with fiber-type disproportion 10.3 MTM1 MMD
22 scoliosis 10.3
23 andersen cardiodysrhythmic periodic paralysis 10.3 TRDN RYR2 CACNA1S
24 congenital muscular dystrophy-dystroglycanopathy type a10 10.3 SELENON KBTBD13
25 congenital muscular dystrophy-dystroglycanopathy a14 10.3 SELENON KBTBD13
26 intermediate congenital nemaline myopathy 10.3 NEB ACTA1
27 foot drop 10.3 NEB ACTA1
28 typical congenital nemaline myopathy 10.3 NEB ACTA1
29 capillary malformations, congenital 10.2 TRDN RYR3 RYR2 RYR1
30 myasthenic syndrome, congenital, 5 10.2 TRDN RYR2 FKBP1B
31 heart conduction disease 10.2 TRDN RYR2 FKBP1B
32 isolated elevated serum creatine phosphokinase levels 10.1 SELENON RYR2 RYR1 CASQ1
33 arrhythmogenic right ventricular dysplasia, familial, 12 10.1 RYR2 FKBP1B
34 familial periodic paralysis 10.1 RYR1 CACNA1S
35 nemaline myopathy 2 10.1 NEB KBTBD13
36 myopathy, myosin storage, autosomal dominant 10.1 MYH7 MMD
37 autosomal dominant distal myopathy 10.1 MYH7 ACTA1
38 reducing body myopathy 1a 10.0 NEB KLHL40
39 peliosis hepatis 10.0 MTM1 DNM2
40 ptosis 10.0
41 nemaline myopathy 10.0
42 multicore disease 10.0
43 cardiac conduction defect 10.0 RYR2 MYH7 FKBP1B
44 childhood-onset nemaline myopathy 10.0 NEB KBTBD13 ACTA1
45 nemaline myopathy 9 10.0 KLHL40 KBTBD13
46 myopathy, centronuclear, x-linked 10.0 RYR1 MTM1 DNM2
47 nemaline myopathy 8 10.0 KLHL40 KBTBD13
48 multiple pterygium syndrome, escobar variant 10.0 RYR1 NEB KLHL40
49 clubfoot 10.0
50 arrhythmogenic right ventricular dysplasia, familial, 2 10.0 TRDN RYR3 RYR2 RYR1 FKBP1B

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



Diseases related to Central Core Myopathy

Symptoms & Phenotypes for Central Core Myopathy

UMLS symptoms related to Central Core Myopathy:


generalized muscle weakness

MGI Mouse Phenotypes related to Central Core Myopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 ACTA1 ATP2A1 CACNA1S CASQ1 FKBP1A MMD
2 growth/size/body region MP:0005378 10.07 ACTA1 ASPH CACNA1S CASQ1 DNM2 FKBP1A
3 homeostasis/metabolism MP:0005376 10.03 ACTA1 ASPH ATP2A1 CACNA1S CASQ1 DNM2
4 cardiovascular system MP:0005385 10.02 ASPH CACNA1S DNM2 FKBP1A FKBP1B KLHL40
5 mortality/aging MP:0010768 9.8 ACTA1 ASPH ATP2A1 CACNA1S DNM2 FKBP1A
6 muscle MP:0005369 9.55 ACTA1 ASPH ATP2A1 CACNA1S CASQ1 DNM2

Drugs & Therapeutics for Central Core Myopathy

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
2 Respiratory System Agents Phase 1, Phase 2
3 Anti-Infective Agents Phase 1, Phase 2
4 Antidotes Phase 1, Phase 2
5 Antioxidants Phase 1, Phase 2
6 Antiviral Agents Phase 1, Phase 2
7 Expectorants Phase 1, Phase 2
8 N-monoacetylcystine Phase 1, Phase 2
9 Protective Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
2 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
3 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883

Search NIH Clinical Center for Central Core Myopathy

Cochrane evidence based reviews: myopathy, central core

Genetic Tests for Central Core Myopathy

Genetic tests related to Central Core Myopathy:

# Genetic test Affiliating Genes
1 Central Core Myopathy 29 RYR1

Anatomical Context for Central Core Myopathy

MalaCards organs/tissues related to Central Core Myopathy:

40
Heart, Skeletal Muscle, Testes

Publications for Central Core Myopathy

Articles related to Central Core Myopathy:

(show all 44)
# Title Authors PMID Year
1
Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker. 61
30959043 2019
2
[Profile of malignant hyperthermia susceptibility reports confirmed with muscular contracture test in Brazil]. 61
30935497 2019
3
Asymmetric Muscle Involvement in an Indian Family With Central Core Myopathy. 61
29465616 2018
4
Central core myopathy with autophagy. 61
28164363 2017
5
Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases. 61
24950660 2014
6
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 61
23394784 2013
7
First branchial arch syndrome with central core myopathy presenting with bilateral congenital ptosis. 61
23738416 2012
8
A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility. 61
22030266 2012
9
RYR1-related central core myopathy in a Chinese adolescent boy. 61
21282829 2011
10
Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy. 61
20452790 2011
11
Myotubular/centronuclear myopathy and central core disease. 61
18974559 2008
12
Animal models for genetic neuromuscular diseases. 61
18202836 2008
13
Congenital myopathies. 61
18367042 2008
14
[Central core myopathy: a juvenile and adult disease]. 61
17235422 2007
15
The role of muscle biopsy in investigating isolated muscle pain. 61
17224570 2007
16
Inherited myopathy in a young Great Dane. 61
17017655 2006
17
Inherited myopathy of great Danes. 61
16674719 2006
18
Congenital myopathies. 61
14683632 2004
19
Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces? 61
14732615 2004
20
Cardiac ankyrin repeat protein is preferentially induced in atrophic myofibers of congenital myopathy and spinal muscular atrophy. 61
14516314 2003
21
The myopathology of floppy and hypotonic infants in Singapore. 61
14555385 2003
22
Ankylosing spondylitis and central core disease: case report. 61
14513182 2003
23
Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. 61
12899871 2003
24
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle. 61
12480088 2003
25
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. 61
12112081 2002
26
[Myopathy, central core disease type]. 61
11528721 2001
27
Segregation of malignant hyperthermia, central core disease and chromosome 19 markers. 61
10618932 1999
28
[Molecular pathology of malignant hyperthermia and central core disease]. 61
9436456 1997
29
[A 34-year-old woman with delayed motor milestones, high arched palate, and proximal muscle weakness]. 61
8753005 1996
30
Congenital myopathies. 61
8114781 1994
31
[Central core myopathy. A review of its complications]. 61
8250444 1993
32
Pathological findings in 165 patients explored for malignant hyperthermia susceptibility. 61
8186710 1993
33
[Pathological anatomy of the heart in myopathies and infantile muscular atrophies]. 61
2048876 1991
34
Asymptomatic hyper-CK-emia: an electrophysiologic and histopathologic study. 61
2725551 1989
35
Quantitative histopathology in congenital myopathies. 61
3317765 1987
36
[Treatment of congenital convex foot]. 61
6518620 1984
37
Central core disease. Study of a family with five affected generations. 61
7057203 1982
38
["Central core" myopathy: report of a case]. 61
7283803 1981
39
[Central-core myopathy. A clinical and morphological study on the diagnostic specificity of central muscle fiber changes]. 61
7256230 1981
40
[Spontaneous tendon ruptures of identified etiology (author's transl)]. 61
35676 1978
41
[Nonprogressive "central core" myopathy. (Clinical, light and electron microscopy study)]. 61
742408 1978
42
[Congenital centronuclear myopathy. Two morphological variants in one family (author's transl)]. 61
131874 1976
43
[Nonprogressive congenital myopathy (central core disease)]. 61
5482535 1970
44
CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY. 61
14280602 1965

Variations for Central Core Myopathy

ClinVar genetic disease variations for Central Core Myopathy:

6 (show top 50) (show all 553) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.2(RYR1):c.208C>T (p.Gln70Ter)SNV Pathogenic 561100 rs1456276440 19:38933031-38933031 19:38442391-38442391
2 RYR1 NM_000540.2(RYR1):c.838C>T (p.Arg280Ter)SNV Pathogenic 620584 rs1278804520 19:38939032-38939032 19:38448392-38448392
3 RYR1 NM_000540.2(RYR1):c.8159C>A (p.Ser2720Ter)SNV Pathogenic 634550 rs1568510406 19:38995479-38995479 19:38504839-38504839
4 RYR1 NM_000540.2(RYR1):c.14667C>A (p.Tyr4889Ter)SNV Pathogenic 647148 19:39075603-39075603 19:38584963-38584963
5 RYR1 NM_001042723.2(RYR1):c.12625_12633del (p.Arg4209_Phe4211del)deletion Pathogenic 12981 rs118192165 19:39055614-39055622 19:38564974-38564982
6 RYR1 NM_000540.2(RYR1):c.14587_14607del (p.Phe4863_Asp4869del)deletion Pathogenic 12986 rs118192169 19:39071085-39071105 19:38580445-38580465
7 RYR1 NM_001042723.2(RYR1):c.14746_14747delinsAC (p.Phe4916Thr)indel Pathogenic 12995 rs118192171 19:39075697-39075698 19:38585057-38585058
8 RYR1 NM_000540.2(RYR1):c.1205T>C (p.Met402Thr)SNV Pathogenic 42099 rs118192117 19:38942486-38942486 19:38451846-38451846
9 NP_000531.2:p.4894Qundetermined variant Pathogenic 65922
10 RYR1 NM_000540.2(RYR1):c.7635G>C (p.Glu2545Asp)SNV Pathogenic 65933 rs193922820 19:38993167-38993167 19:38502527-38502527
11 RYR1 NM_000540.2(RYR1):c.13900G>A (p.Glu4634Lys)SNV Pathogenic 65934 rs118192133 19:39062812-39062812 19:38572172-38572172
12 RYR1 NM_000540.2(RYR1):c.1534G>A (p.Glu512Lys)SNV Pathogenic 65935 rs118192119 19:38945968-38945968 19:38455328-38455328
13 undetermined variant Pathogenic 65936
14 NP_000531.2:p.F4860deldeletion Pathogenic 65937
15 NP_000531.2:p.F4906deldeletion Pathogenic 65938
16 RYR1 NM_000540.2(RYR1):c.14762T>C (p.Phe4921Ser)SNV Pathogenic 65939 rs118192156 19:39075698-39075698 19:38585058-38585058
17 RYR1 NM_000540.2(RYR1):c.644G>A (p.Gly215Glu)SNV Pathogenic 65940 rs118192115 19:38937124-38937124 19:38446484-38446484
18 RYR1 NM_000540.2(RYR1):c.13913G>A (p.Gly4638Asp)SNV Pathogenic 65941 rs118192135 19:39062825-39062825 19:38572185-38572185
19 undetermined variant Pathogenic 65942
20 undetermined variant Pathogenic 65944
21 RYR1 NM_000540.2(RYR1):c.14671G>C (p.Gly4891Arg)SNV Pathogenic 65945 rs118192149 19:39075607-39075607 19:38584967-38584967
22 NP_000531.2:p.G4893Rprotein only Pathogenic 65946
23 RYR1 NM_000540.2(RYR1):c.14690G>T (p.Gly4897Val)SNV Pathogenic 65947 rs118192148 19:39075626-39075626 19:38584986-38584986
24 RYR1 NM_000540.2(RYR1):c.14696G>A (p.Gly4899Glu)SNV Pathogenic 65948 rs118192183 19:39075632-39075632 19:38584992-38584992
25 undetermined variant Pathogenic 65949
26 RYR1 NM_000540.2(RYR1):c.13952A>C (p.His4651Pro)SNV Pathogenic 65951 rs118192139 19:39062864-39062864 19:38572224-38572224
27 RYR1 NM_000540.2(RYR1):c.12986C>A (p.Ala4329Asp)SNV Pathogenic 65924 rs118192129 19:39055960-39055960 19:38565320-38565320
28 RYR1 NM_000540.2(RYR1):c.14537C>T (p.Ala4846Val)SNV Pathogenic 65925 rs118192143 19:39071035-39071035 19:38580395-38580395
29 RYR1 NM_000540.2(RYR1):c.10100A>G (p.Lys3367Arg)SNV Pathogenic 65956 rs118192126 19:39009935-39009935 19:38519295-38519295
30 RYR1 NM_000540.2(RYR1):c.14170A>C (p.Lys4724Gln)SNV Pathogenic 65957 rs118192141 19:39066599-39066599 19:38575959-38575959
31 RYR1 NM_000540.2(RYR1):c.10817T>C (p.Leu3606Pro)SNV Pathogenic 65958 rs118192127 19:39018417-39018417 19:38527777-38527777
32 undetermined variant Pathogenic 65972
33 p.L4796Cprotein only Pathogenic 65963
34 RYR1 NM_000540.2(RYR1):c.14440C>T (p.Leu4814Phe)SNV Pathogenic 65964 rs118192142 19:39070697-39070697 19:38580057-38580057
35 p.M2434Kprotein only Pathogenic 65966
36 RYR1 NM_000540.2(RYR1):c.6847A>C (p.Asn2283His)SNV Pathogenic 65968 rs118192121 19:38987550-38987550 19:38496910-38496910
37 RYR1 NM_000540.2(RYR1):c.14572A>G (p.Asn4858Asp)SNV Pathogenic 65969 rs118192144 19:39071070-39071070 19:38580430-38580430
38 undetermined variant Pathogenic 65970
39 undetermined variant Pathogenic 65973
40 undetermined variant Pathogenic 65974
41 undetermined variant Pathogenic 65975
42 undetermined variant Pathogenic 65978
43 RYR1 NM_000540.2(RYR1):c.7358T>C (p.Ile2453Thr)SNV Pathogenic 65953 rs118192123 19:38991280-38991280 19:38500640-38500640
44 NP_000531.2:p.L4647deldeletion Pathogenic 65960
45 RYR1 NM_000540.2(RYR1):c.8816G>A (p.Arg2939Lys)SNV Pathogenic 65982 rs118192125 19:38997592-38997592 19:38506952-38506952
46 RYR1 NM_000540.2(RYR1):c.14473C>T (p.Arg4825Cys)SNV Pathogenic 65985 rs118192180 19:39070730-39070730 19:38580090-38580090
47 RYR1 NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys)SNV Pathogenic 65986 rs118192181 19:39071079-39071079 19:38580439-38580439
48 RYR1 NM_000540.2(RYR1):c.14678G>C (p.Arg4893Pro)SNV Pathogenic 65987 rs118192151 19:39075614-39075614 19:38584974-38584974
49 RYR1 NM_000540.2(RYR1):c.14677C>T (p.Arg4893Trp)SNV Pathogenic 65989 rs118192150 19:39075613-39075613 19:38584973-38584973
50 RYR1 NM_000540.2(RYR1):c.14740A>G (p.Arg4914Gly)SNV Pathogenic 65990 rs118192184 19:39075676-39075676 19:38585036-38585036

Expression for Central Core Myopathy

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

Pathways for Central Core Myopathy

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 TRDN RYR3 RYR2 RYR1 FKBP1B ATP2A1
2
Show member pathways
12.62 RYR3 RYR2 RYR1 CACNA1S ATP2A1
3
Show member pathways
12.54 TRDN RYR3 RYR2 RYR1 NEB FKBP1B
4
Show member pathways
12.49 RYR3 RYR2 RYR1 CACNA1S ACTA1
5
Show member pathways
12.36 RYR2 MYH7 CACNA1S ATP2A1
6
Show member pathways
12.36 TRDN RYR3 RYR2 RYR1 FKBP1B ATP2A1
7
Show member pathways
12.31 RYR3 RYR2 RYR1 CACNA1S
8
Show member pathways
12.29 RYR3 RYR2 RYR1 FKBP1A CASQ1 CACNA1S
9
Show member pathways
12.08 RYR2 MYH7 CACNA1S ATP2A1
10 11.93 RYR3 RYR2 RYR1 CACNA1S
11
Show member pathways
11.53 TRDN RYR3 RYR2 RYR1 CASQ1 CACNA1S
12 11.45 RYR2 FKBP1B CASQ1 ATP2A1
13 11.37 TRDN RYR2 MYH7 CACNA1S ATP2A1 ASPH
14 11.36 RYR3 RYR2 RYR1 CACNA1S
15 10.75 RYR3 RYR2 RYR1
16 10.69 RYR1 CACNA1S ATP2A1

GO Terms for Central Core Myopathy

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.41 RYR1 QDPR NEB MYH7 MTM1 KLHL40
2 cell GO:0005623 10.13 TRDN RYR3 RYR2 RYR1 MTM1 FKBP1B
3 sarcolemma GO:0042383 9.8 RYR3 RYR2 RYR1 CASQ1
4 sarcomere GO:0030017 9.77 RYR2 NEB MYH7 MTM1 ACTA1
5 Z disc GO:0030018 9.76 RYR3 RYR2 RYR1 NEB MYH7 FKBP1B
6 smooth endoplasmic reticulum GO:0005790 9.73 RYR3 RYR2 RYR1 CASQ1
7 calcium channel complex GO:0034704 9.72 RYR3 RYR2 RYR1 FKBP1B ATP2A1
8 T-tubule GO:0030315 9.71 RYR1 CASQ1 CACNA1S
9 myofibril GO:0030016 9.7 NEB MYH7 CASQ1
10 I band GO:0031674 9.65 RYR1 MTM1 KLHL40 CASQ1 CACNA1S
11 junctional sarcoplasmic reticulum membrane GO:0014701 9.63 TRDN RYR2 RYR1
12 sarcoplasmic reticulum membrane GO:0033017 9.61 TRDN RYR3 RYR2 RYR1 FKBP1B FKBP1A
13 terminal cisterna GO:0014802 9.58 RYR1 FKBP1A CASQ1
14 sarcoplasmic reticulum lumen GO:0033018 9.56 TRDN CASQ1
15 junctional membrane complex GO:0030314 9.55 TRDN RYR1
16 ryanodine receptor complex GO:1990425 9.51 RYR1 FKBP1A
17 sarcoplasmic reticulum GO:0016529 9.28 TRDN RYR3 RYR2 RYR1 FKBP1B FKBP1A

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.03 RYR3 RYR2 RYR1 CACNA1S ATP2A1
2 calcium ion transport GO:0006816 9.88 RYR3 RYR2 RYR1 CACNA1S ATP2A1
3 cellular calcium ion homeostasis GO:0006874 9.8 TRDN RYR3 RYR2 RYR1 ATP2A1
4 calcium ion transmembrane transport GO:0070588 9.8 RYR3 RYR2 RYR1 FKBP1A CACNA1S ATP2A1
5 regulation of cytosolic calcium ion concentration GO:0051480 9.76 RYR2 RYR1 FKBP1B
6 release of sequestered calcium ion into cytosol GO:0051209 9.76 RYR3 RYR2 RYR1 FKBP1B
7 muscle filament sliding GO:0030049 9.74 NEB MYH7 ACTA1
8 muscle contraction GO:0006936 9.73 TRDN RYR1 MYH7 CACNA1S ASPH ACTA1
9 regulation of heart rate GO:0002027 9.71 RYR2 MYH7 FKBP1B
10 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.7 TRDN FKBP1B CASQ1
11 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.69 SELENON FKBP1B FKBP1A
12 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.67 TRDN FKBP1B FKBP1A
13 skeletal muscle fiber development GO:0048741 9.67 SELENON RYR1 KLHL40 ACTA1
14 calcium ion import GO:0070509 9.64 CACNA1S ATP2A1
15 calcium-mediated signaling using intracellular calcium source GO:0035584 9.63 RYR2 FKBP1B
16 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.62 TRDN CASQ1
17 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.62 RYR2 FKBP1B
18 response to redox state GO:0051775 9.61 RYR2 FKBP1B
19 response to caffeine GO:0031000 9.61 RYR2 RYR1
20 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.61 TRDN RYR2 RYR1
21 protein maturation by protein folding GO:0022417 9.6 FKBP1B FKBP1A
22 positive regulation of calcium-transporting ATPase activity GO:1901896 9.59 RYR2 ATP2A1
23 negative regulation of release of sequestered calcium ion into cytosol GO:0051280 9.58 FKBP1B FKBP1A
24 positive regulation of sequestering of calcium ion GO:0051284 9.56 RYR2 FKBP1B
25 ion transmembrane transport GO:0034220 9.56 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ1
26 'de novo' protein folding GO:0006458 9.55 FKBP1B FKBP1A
27 cellular response to caffeine GO:0071313 9.46 RYR3 RYR2 RYR1 CACNA1S
28 regulation of cardiac conduction GO:1903779 9.23 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.39 TRDN SELENON RYR3 RYR2 RYR1 NEB
2 calcium ion binding GO:0005509 9.87 SELENON RYR3 RYR2 RYR1 CASQ1 ATP2A1
3 ion channel activity GO:0005216 9.76 RYR3 RYR2 RYR1 CACNA1S
4 ion channel binding GO:0044325 9.71 TRDN RYR2 FKBP1B FKBP1A
5 calcium channel activity GO:0005262 9.67 RYR3 RYR2 RYR1 CACNA1S
6 calmodulin binding GO:0005516 9.65 RYR3 RYR2 RYR1 MYH7 CACNA1S
7 calcium channel inhibitor activity GO:0019855 9.49 FKBP1B FKBP1A
8 FK506 binding GO:0005528 9.48 FKBP1B FKBP1A
9 calcium-release channel activity GO:0015278 9.33 RYR3 RYR2 RYR1
10 calcium-induced calcium release activity GO:0048763 9.13 RYR3 RYR2 RYR1
11 ryanodine-sensitive calcium-release channel activity GO:0005219 8.92 RYR3 RYR2 RYR1 FKBP1B

Sources for Central Core Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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