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Central core disease
Central core disease
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
AUTOSOMAL RECESSIVE CENTRAL CORE DISEASE
C4016368
RYR1
Unknown
—
Disgenet
Calcium signaling pathway
Apelin signaling pathway
Circadian entrainment
Long-term depression
Oxytocin signaling pathway
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Stimuli-sensing channels
Ion homeostasis
+7 more
CENTRAL CORE DISEASE
597
RYR1
Unknown
20301565
Orphanet
Calcium signaling pathway
Apelin signaling pathway
Circadian entrainment
Long-term depression
Oxytocin signaling pathway
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Stimuli-sensing channels
Ion homeostasis
+7 more
All
1
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
1
Disgenet
1
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Central core disease.
5
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Benign samaritan congenital myopathy
1 shared gene
RYR1
Related via 1 shared gene including RYR1.
Congenital multicore myopathy with external ophthalmoplegia
1 shared gene
RYR1
Related via 1 shared gene including RYR1.
RYR1-related myopathy
1 shared gene
RYR1
Related via 1 shared gene including RYR1.
Malignant hyperthermia
1 shared gene
RYR1
Related via 1 shared gene including RYR1.
Sacral agenesis
1 shared gene
RYR1
Related via 1 shared gene including RYR1.
1
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