Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY	98853 MONDO:0020336 C0410190	LMNA	Unknown	—	GenCC Orphanet
		SYNE1	Unknown	—	GenCC Orphanet
		SYNE2	Unknown	—	GenCC Orphanet
		TMEM43	Unknown	21391237	GWAS catalog Orphanet
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1	C5243475	EMD	Unknown	—	Disgenet
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED	310300 MONDO:0100531	EMD	Causal	—	ClinVar HPO
EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT	181350 MONDO:0021569	LMNA	Causal	—	ClinVar GenCC HPO
EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE	616516 C2750035 MONDO:0014676	LMNA	Unknown	10739764 22431096 23313286	ClinVar Disgenet HPO
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4	C2751807	ESR1	Unknown	—	Disgenet
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4	C2751807	SYNE1	Unknown	—	Disgenet
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT	612998 MONDO:0013071	SYNE1	Causal	23352163 27782104 30573412	ClinVar GWAS catalog HPO
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT	612999 C2751805 MONDO:0013072	SYNE2	Causal	—	ClinVar Disgenet GenCC HPO
EMERY-DREIFUSS MUSCULAR DYSTROPHY 6	C2749106	FHL1	Causal	—	Disgenet
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT	614302 C3553060 MONDO:0013677	TMEM43	Causal	21391237 30311943	ClinVar Disgenet GWAS catalog HPO

Emery-dreifuss muscular dystrophy