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
CENTRONUCLEAR MYOPATHY	C0175709	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