Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CARDIOMYOPATHY, DILATED	C0007193 MESH:D002311	DMD	Unknown	11496434	CTD, Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
		DNASE1L1	Unknown	—	Disgenet	Neutrophil degranulation
		DOLK	Unknown	—	Disgenet	N-Glycan biosynthesis Metabolic pathways Synthesis of Dolichyl-phosphate +1 more
		DPP6	Unknown	—	Disgenet	—
		DSC2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Keratinization +1 more
		DSG2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
		DTNA	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		DYSF	Unknown	—	Disgenet	Smooth Muscle Contraction
		EGFR	Unknown	18599591	CTD, Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Virion - Hepatitis viruses +79 more
		EMD	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +5 more
		EYA4	Unknown	—	Disgenet	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		FAS	Unknown	17943461	CTD, Disgenet	Platinum drug resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +36 more
		FASLG	Unknown	17943461	CTD, Disgenet	Platinum drug resistance MAPK signaling pathway Ras signaling pathway +38 more
		FASN	Unknown	26670611	CTD, Disgenet	Fatty acid biosynthesis Metabolic pathways Fatty acid metabolism +8 more
		FBN1	Unknown	—	Disgenet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		FBN2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Degradation of the extracellular matrix Elastic fibre formation +1 more
		FBXO32	Unknown	—	Disgenet	FoxO signaling pathway Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		FHL2	Unknown	—	Disgenet	Osteoclast differentiation Cytoskeleton in muscle cells PPARA activates gene expression
		FHOD3	Unknown	—	Disgenet	—
		FKRP	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
		FKTN	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
		FLII	Unknown	—	Disgenet	—
		FLNC	Unknown	—	Disgenet	Cytoskeleton in muscle cells Cell-extracellular matrix interactions
		FPGT-TNNI3K	Unknown	—	Disgenet	—
		GATA4	Unknown	—	Disgenet	cGMP-PKG signaling pathway Cellular senescence Tight junction +5 more
		GATA5	Unknown	—	Disgenet	Factors involved in megakaryocyte development and platelet production
		GATA6	Unknown	—	Disgenet, ClinGen	Surfactant metabolism Factors involved in megakaryocyte development and platelet production
		GATAD1	Unknown	—	Disgenet	—
		GBA2	Unknown	—	Disgenet	Other glycan degradation Sphingolipid metabolism Metabolic pathways +1 more
		GCOM1	Unknown	—	Disgenet	—
		GET3	Unknown	—	Disgenet	Protein export
		GPD1L	Unknown	—	Disgenet	Glycerophospholipid metabolism Synthesis of PA
		GPX1	Unknown	18940188	CTD, Disgenet	Glutathione metabolism Metabolic pathways Thyroid hormone synthesis +7 more
		GSK3A	Unknown	—	Disgenet	Chemokine signaling pathway Dopaminergic synapse Non-alcoholic fatty liver disease +4 more
		GSK3B	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance ErbB signaling pathway Chemokine signaling pathway +59 more
		HCN4	Unknown	—	Disgenet	cAMP signaling pathway Taste transduction HCN channels
		HDAC6	Unknown	35764897	CTD, Disgenet	Neutrophil extracellular trap formation Amyotrophic lateral sclerosis Alcoholism +8 more
		HFE	Unknown	—	Disgenet	TGF-beta signaling pathway Transferrin endocytosis and recycling
		HLA-DQA1	Unknown	—	Disgenet	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		HLA-DQB1	Unknown	—	Disgenet	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		IGF1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +35 more
		ILK	Unknown	33947203	Disgenet, ClinGen	PPAR signaling pathway Axon guidance Focal adhesion +5 more
		ISL1	Unknown	—	Disgenet	Signaling pathways regulating pluripotency of stem cells Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
		ITGB1	Unknown	11884376	CTD, Disgenet	Virion - Rotavirus Rap1 signaling pathway Phagosome +41 more
		JPH2	Unknown	—	Disgenet	—
		JUP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Pathways in cancer Transcriptional misregulation in cancer +8 more
		KCNE1	Unknown	—	Disgenet	Adrenergic signaling in cardiomyocytes Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KIF5B	Unknown	—	Disgenet	Endocytosis Dopaminergic synapse Motor proteins +12 more
		LAMA2	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +12 more
CARDIOMYOPATHY, DILATED, 1B	C5700078	FKTN	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
CARDIOMYOPATHY, DILATED, 1BB	C2752072 612877 MESH:C567877	DSC2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Keratinization +1 more
CARDIOMYOPATHY, DILATED, 1BB	C2752072 612877 MESH:C567877	DSG2	Unknown	—	CTD, Disgenet, HPO	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
CARDIOMYOPATHY, DILATED, 1H	C1858591	HLA-DQA1	Unknown	—	Disgenet	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
CARDIOMYOPATHY, DILATED, 1H	C1858591	HLA-DQB1	Unknown	—	Disgenet	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
CARDIOMYOPATHY, DILATED, 1HH	C3151293	DTNA	Unknown	33947203	Disgenet, ClinGen	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
CARDIOMYOPATHY, DILATED, 1J	605362 C1854368 MESH:C565337	EYA4	Unknown	—	CTD, Disgenet, HPO	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
CARDIOMYOPATHY, DILATED, 1X	611615 C1969024 MESH:C566907	FKTN	Unknown	—	CTD, Disgenet, HPO	Mannose type O-glycan biosynthesis Metabolic pathways
CARDIOMYOPATHY, DILATED, 2B	614672 C3553409 OMIM:614672	GATAD1	Unknown	—	CTD, Disgenet, HPO	—
CARDIOMYOPATHY, DILATED, 2K	C5935636	GCOM1	Unknown	—	Disgenet	—
CARDIOMYOPATHY, DILATED, 3B	302045 OMIM:302045	DMD	Unknown	—	CTD, HPO	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
DILATED CARDIOMYOPATHY	MONDO:0005021 EFO_0000407	DSG2	Unknown	21859740 28764973 39706847	ClinGen, GWAS catalog	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
		FBXO32	Unknown	—	ClinGen, GenCC	FoxO signaling pathway Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		FHOD3	Unknown	33495596	GWAS catalog	—
		FLII	Unknown	32870709 37126682 37561591 9177775	ClinGen, GWAS catalog	—
		FLNC	Unknown	33495596	ClinGen, GWAS catalog, GenCC	Cytoskeleton in muscle cells Cell-extracellular matrix interactions
		GATA4	Unknown	—	GenCC	cGMP-PKG signaling pathway Cellular senescence Tight junction +5 more
		GATAD1	Unknown	21965549 28955713 38605029	ClinGen, Orphanet	—
		GCOM1	Unknown	—	GenCC	—
		GET3	Unknown	16797549 31461301	ClinGen, GWAS catalog	Protein export
		JPH2	Unknown	10949023 15541368 21339484 23715556 29208631 30384889 30982350 31227780 32870709 32879264 34036930 35838873	CTD, ClinGen	—
DMD-ASSOCIATED DILATED CARDIOMYOPATHY	C3668940	DMD	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
FAMILIAL DILATED CARDIOMYOPATHY	C0340427	DMD	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
		DSC2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Keratinization +1 more
		DSG2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
		EMD	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +5 more
		FKTN	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
		FLNC	Unknown	22020047 27206985 27601210 27908349 2843697 30067491 31627847 32150467 32154132 32160020	Disgenet, ClinGen	Cytoskeleton in muscle cells Cell-extracellular matrix interactions
		JUP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Pathways in cancer Transcriptional misregulation in cancer +8 more
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	154 MONDO:0015470	DMD	Unknown	14567970 20301486	Orphanet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
		DOLK	Unknown	22242004	GWAS catalog, Orphanet	N-Glycan biosynthesis Metabolic pathways Synthesis of Dolichyl-phosphate +1 more
		DSG2	Unknown	18678517 20301486	Disgenet, Orphanet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
		FHL2	Unknown	17416352	Disgenet, Orphanet	Osteoclast differentiation Cytoskeleton in muscle cells PPARA activates gene expression
		FKTN	Unknown	17036286	ClinGen, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways
		GATAD1	Unknown	21965549	Disgenet, Orphanet	—
		GET3	Unknown	31461301	Orphanet	Protein export
		JPH2	Unknown	31227780	Orphanet	—
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	C5679590	DMD	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
		DOLK	Unknown	—	Disgenet	N-Glycan biosynthesis Metabolic pathways Synthesis of Dolichyl-phosphate +1 more
		DSG2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
		FHL2	Unknown	—	Disgenet	Osteoclast differentiation Cytoskeleton in muscle cells PPARA activates gene expression
		FKTN	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
		GATAD1	Unknown	33947203	Disgenet	—
		GET3	Unknown	—	Disgenet	Protein export
		JPH2	Unknown	—	Disgenet, ClinGen	—
PRIMARY DILATED CARDIOMYOPATHY		DSG2	Unknown	33947203	ClinVar	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
		EYA4	Unknown	33947203	ClinVar	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		FKTN	Unknown	—	ClinVar	Mannose type O-glycan biosynthesis Metabolic pathways

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Dilated cardiomyopathy

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