Emery-dreifuss muscular dystrophy | 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 EMERY-DREIFUSS MUSCULAR DYSTROPHY	C0410190 98853 MONDO:0020336	LMNA	Unknown	—	Disgenet, GenCC, Orphanet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
		SYNE1	Unknown	—	GenCC, Orphanet, Disgenet	Cytoskeleton in muscle cells
		SYNE2	Unknown	—	GenCC, Orphanet, Disgenet	Cytoskeleton in muscle cells
		TMEM43	Unknown	21391237	GWAS catalog, Orphanet, Disgenet	Cytoskeleton in muscle cells
AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY	98855 C1450051 MONDO:0008406	LMNA	Unknown	—	Disgenet, GenCC, Orphanet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1	C5243475	EMD	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +5 more
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED	310300 MONDO:0100531	EMD	Causal	—	ClinVar, HPO	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +5 more
EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT	181350 MONDO:0021569	LMNA	Causal	—	ClinVar, GenCC, HPO	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE	616516 C2750035 MONDO:0014676	LMNA	Unknown	10739764 22431096 23313286	ClinVar, Disgenet, HPO	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4	C2751807	ESR1	Unknown	—	Disgenet	Endocrine resistance Hormone signaling Estrogen signaling pathway +21 more
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4	C2751807	SYNE1	Unknown	—	Disgenet	Cytoskeleton in muscle cells
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT	612998 MONDO:0013071	SYNE1	Causal	23352163 27782104 30573412	ClinVar, GWAS catalog, HPO	Cytoskeleton in muscle cells
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT	612999 C2751805 MONDO:0013072	SYNE2	Causal	—	ClinVar, Disgenet, GenCC, HPO	Cytoskeleton in muscle cells
EMERY-DREIFUSS MUSCULAR DYSTROPHY 6	C2749106	FHL1	Causal	18179888 19687455 19716112 20186852 22523091 30681346 32993534 35607917	Disgenet	JAK-STAT signaling pathway Cytoskeleton in muscle cells
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT	614302 C3553060 MONDO:0013677	TMEM43	Causal	21391237 30311943	ClinVar, Disgenet, GWAS catalog, HPO	Cytoskeleton in muscle cells