Centronuclear myopathy | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY	169189 MONDO:0008048 C1834558	DNM2	Causal	16227997 17932957 21514436 26273216 29246969 31691805	ClinGen, ClinVar, Disgenet, Orphanet	Phospholipase D signaling pathway Endocytosis Fc gamma R-mediated phagocytosis +13 more
		BIN1	Unknown	25260562	Disgenet, GWAS catalog, Orphanet	Endocytosis Fc gamma R-mediated phagocytosis Clathrin-mediated endocytosis
		MTMR14	Unknown	17008356	ClinVar, Orphanet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +3 more
		MYF6	Unknown	—	Orphanet	Myogenesis
		RYR1	Unknown	—	Orphanet	Calcium signaling pathway Apelin signaling pathway Circadian entrainment +7 more
AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY	169186 C3645536 MONDO:0015705	BIN1	Unknown	17676042	Disgenet, GWAS catalog, Orphanet	Endocytosis Fc gamma R-mediated phagocytosis Clathrin-mediated endocytosis
		RYR1	Unknown	20839240	Disgenet, GenCC, Orphanet	Calcium signaling pathway Apelin signaling pathway Circadian entrainment +7 more
		SPEG	Unknown	25087613	Disgenet, GenCC, Orphanet	—
		TTN	Unknown	23975875	Disgenet, Orphanet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
CENTRONUCLEAR MYOPATHY	C0175709 MONDO:0018947	ACTA1	Causal	—	Disgenet	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
		ASCC1	Causal	—	Disgenet	ALKBH3 mediated reversal of alkylation damage
		CACNA1S	Causal	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +26 more
		CHRNA1	Causal	—	Disgenet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Neuroactive ligand-receptor interaction Highly calcium permeable postsynaptic nicotinic acetylcholine receptors +1 more
		DNM2	Causal	—	Disgenet	Phospholipase D signaling pathway Endocytosis Fc gamma R-mediated phagocytosis +13 more
		FHL1	Causal	—	Disgenet	JAK-STAT signaling pathway Cytoskeleton in muscle cells
		FOXP3	Causal	—	Disgenet	Th17 cell differentiation Inflammatory bowel disease RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) +1 more
		MAP3K20	Causal	27816943	Disgenet	MAPK signaling pathway
		MTM1	Causal	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +3 more
		OPA1	Causal	—	Disgenet	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
		RYR1	Causal	—	Disgenet	Calcium signaling pathway Apelin signaling pathway Circadian entrainment +7 more
		TOR1AIP1	Causal	—	Disgenet	—
		TRIP4	Causal	—	Disgenet	—
		TTN	Causal	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
		BIN1	Unknown	11711432 15483625 17676042 20142620 20476667 21129173 23754947 24549043 25260562 27854204 29130937 29950440 9182667	ClinGen, Disgenet, GWAS catalog	Endocytosis Fc gamma R-mediated phagocytosis Clathrin-mediated endocytosis
		CCDC78	Unknown	22818856 25635128 28454995	ClinGen, Disgenet, GWAS catalog	—
		CFL2	Unknown	—	Disgenet	Axon guidance Fc gamma R-mediated phagocytosis Regulation of actin cytoskeleton +2 more
		CHRND	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
		MYF6	Unknown	—	Disgenet	Myogenesis
		TPM3	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +7 more