Duchenne muscular dystrophy | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
DUCHENNE AND BECKER MUSCULAR DYSTROPHY	C3542021 MONDO:0016899	DMD	Causal	—	Disgenet, GenCC	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
DUCHENNE MUSCULAR DYSTROPHY	98896 MONDO:0010679 MONDO_0010679	DMD	Causal	10909857 12522557 12632325 12673664 12754707 12794683 1301174 1307253 1383546 1433447 1513469 1515177 1549596 15643612 1601417 1613762 1632439 1684713 17024373 1757094 1864612 1870527 1889805 2071150 2073748 2200624 2289321 2491010 3781105 4053465	ClinVar, GenCC, Orphanet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
		ADCY1	Unknown	30014611	GWAS catalog	Purine metabolism Metabolic pathways Endocrine resistance +61 more
		ADCY8	Unknown	30014611	GWAS catalog	Purine metabolism Metabolic pathways Endocrine resistance +61 more
		ATPSCKMT	Unknown	30014611	GWAS catalog	—
		CLSTN2	Unknown	30014611	GWAS catalog	—
		CYB5A	Unknown	30014611	GWAS catalog	Vitamin C (ascorbate) metabolism Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
		DGKB	Unknown	30014611	GWAS catalog	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
		DOCK1	Unknown	30014611	GWAS catalog	Efferocytosis Focal adhesion Fc gamma R-mediated phagocytosis +10 more
		JAM2	Unknown	30014611	GWAS catalog	Cell adhesion molecules Tight junction Leukocyte transendothelial migration +3 more
		LTBP4	Unknown	23440719	Orphanet	Molecules associated with elastic fibres
		MICALL2	Unknown	30014611	GWAS catalog	Tight junction
		NSG2	Unknown	30014611	GWAS catalog	—
		NUP93	Unknown	30014611	GWAS catalog	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +26 more
		OR14A2	Unknown	30014611	GWAS catalog	Olfactory transduction
		PREP	Unknown	30014611	GWAS catalog	Renin-angiotensin system
		PTPN1	Unknown	30014611	GWAS catalog	Adherens junction Insulin signaling pathway Insulin resistance +7 more
		RAMP3	Unknown	30014611	GWAS catalog	Hormone signaling Vascular smooth muscle contraction G alpha (s) signalling events +2 more
		RGS6	Unknown	30014611	GWAS catalog	G alpha (i) signalling events Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
		SATB1	Unknown	30014611	GWAS catalog	Apoptotic cleavage of cellular proteins SUMOylation of chromatin organization proteins
		SHKBP1	Unknown	30014611	GWAS catalog	—
		SLC25A48	Unknown	30014611	GWAS catalog	—
		SLC8A1	Unknown	30014611	GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway Cardiac muscle contraction +12 more
		SLFN12L	Unknown	30014611	GWAS catalog	—
		SNCA	Unknown	30014611	GWAS catalog	Alzheimer disease Parkinson disease Pathways of neurodegeneration - multiple diseases +1 more
		SPEF2	Unknown	30014611	GWAS catalog	—
		TBC1D5	Unknown	30014611	GWAS catalog	—
		TBRG4	Unknown	30014611	GWAS catalog	—
		UNCX	Unknown	30014611	GWAS catalog	—
		XYLT1	Unknown	30014611	GWAS catalog	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +1 more