Centronuclear myopathy

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY
169189MONDO:0008048C1834558
BIN1 Unknown
25260562
GWAS catalog, Orphanet, Disgenet
MTMR14 Unknown
17008356
ClinVar, Orphanet
MYF6 Unknown — Orphanet
RYR1 Unknown — Orphanet
AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY
169186C3645536MONDO:0015705
BIN1 Unknown
17676042
Disgenet, GWAS catalog, Orphanet
RYR1 Unknown
20839240
Disgenet, GenCC, Orphanet
SPEG Unknown
25087613
Disgenet, GenCC, Orphanet —
TTN Unknown
23975875
Disgenet, Orphanet
CENTRONUCLEAR MYOPATHY
C0175709MONDO:0018947
BIN1 Unknown
11711432 15483625 17676042 20142620 20476667 21129173 23754947 24549043 25260562 27854204 29130937 29950440 9182667
ClinGen, Disgenet, GWAS catalog
CCDC78 Unknown
22818856 25635128 28454995
ClinGen, Disgenet, GWAS catalog —
CFL2 Unknown — Disgenet
CHRND Unknown — Disgenet
MYF6 Unknown — Disgenet
TPM3 Unknown — Disgenet
All22 Causal14 Unknown10
Related Diseases Diseases that share the most curated genes with Centronuclear myopathy.
5 View disease cluster →
Congenital structural myopathy 8 shared genesBIN1, MTM1, MTMR14, RYR1, TPM3, DNM2, MYF6, CCDC78 Related via 8 shared genes including BIN1, MTM1, MTMR14. Congenital fiber type disproportion myopathy 5 shared genesACTA1, MAP3K20, MTM1, RYR1, TPM3 Related via 5 shared genes including ACTA1, MAP3K20, MTM1. Congenital myopathy 7 shared genesACTA1, RYR1, TTN, TPM3, CHRNA1, CACNA1S, CCDC78 Related via 7 shared genes including ACTA1, RYR1, TTN. X-linked centronuclear myopathy 2 shared genesMTM1, DNM2 Related via 2 shared genes including MTM1, DNM2. Malignant hyperthermia 2 shared genesRYR1, CACNA1S Related via 2 shared genes including RYR1, CACNA1S.