Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT CONGENITAL MYOPATHY-1A	C5830701	CYB5R3	Unknown	—	Disgenet
AUTOSOMAL DOMINANT CONGENITAL MYOPATHY-1A	C5830701	RYR1	Unknown	—	Disgenet
CONGENITAL MYOPATHY	C0270960 MONDO:0019952	ACTA1	Causal	—	Disgenet
		CHRNA1	Causal	—	Disgenet
		EXOSC3	Causal	—	Disgenet
		JPH1	Causal	—	Disgenet
		MYH7	Causal	—	Disgenet
		MYPN	Causal	—	Disgenet
		RYR1	Causal	—	Disgenet
		SCN4A	Causal	—	GenCC
		STAC3	Causal	—	Disgenet
		ALG14	Unknown	—	Disgenet
		ASCC3	Unknown	—	Disgenet
		CACNA1S	Unknown	—	Disgenet
		CHKB	Unknown	—	Disgenet
		COL6A6	Unknown	—	GenCC
		DNA2	Unknown	—	Disgenet
		DNAJB4	Unknown	—	GenCC
		FKRP	Unknown	—	Disgenet
		FXR1	Unknown	35393337 30770808	Disgenet
		GMPPB	Unknown	—	Disgenet
		GNE	Unknown	35121750	Disgenet
		HACD1	Unknown	10644438 12884002 23933735 26160855 27939133 28781516 33354762	Disgenet
		ITGA7	Unknown	—	Disgenet
		LARGE1	Unknown	—	Disgenet
		LMNA	Unknown	—	Disgenet
		MYL1	Unknown	30215711	Disgenet
		MYO15B	Unknown	—	Disgenet
		RYR3	Unknown	25262651 29498452 31230720 32451403	Disgenet
		SRPK3	Unknown	—	Disgenet
		TNNT3	Unknown	29266598 33977145	Disgenet
		TPM2	Unknown	—	Disgenet
		TTN	Unknown	—	Disgenet
CONGENITAL MYOPATHY 10A, SEVERE VARIANT	614399	MEGF10	Unknown	—	HPO
CONGENITAL MYOPATHY 10B, MILD VARIANT	620249 MONDO:0859515	MEGF10	Causal	—	ClinVar HPO
CONGENITAL MYOPATHY 11	619967 C3151531 MONDO:0859264	HACD1	Causal	33354762 23933735 32426512 36823680	ClinVar Disgenet HPO
CONGENITAL MYOPATHY 12	612540	CNTN1	Unknown	—	HPO
CONGENITAL MYOPATHY 13	255995	STAC3	Unknown	—	HPO

Congenital myopathy