Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY	169189 MONDO:0008048 C1834558	DNM2	Causal	16227997 17932957 21514436 26273216 29246969 31691805	ClinGen ClinVar Disgenet Orphanet
		BIN1	Unknown	25260562	GWAS catalog Orphanet
		MTMR14	Unknown	17008356	ClinVar Orphanet
		MYF6	Unknown	—	Orphanet
		RYR1	Unknown	—	Orphanet
AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY	169186 C3645536 MONDO: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	C0175709 MONDO:0018947	ACTA1	Causal	—	Disgenet
		ASCC1	Causal	—	Disgenet
		CACNA1S	Causal	—	Disgenet
		CHRNA1	Causal	—	Disgenet
		DNM2	Causal	—	Disgenet
		FHL1	Causal	—	Disgenet
		FOXP3	Causal	—	Disgenet
		MAP3K20	Causal	—	Disgenet
		MTM1	Causal	—	Disgenet
		OPA1	Causal	—	Disgenet
		RYR1	Causal	—	Disgenet
		TOR1AIP1	Causal	—	Disgenet
		TRIP4	Causal	—	Disgenet
		TTN	Causal	—	Disgenet
		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

Centronuclear myopathy