Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CARDIOMYOPATHY, DILATED	C0007193 MESH:D002311	VEZF1	Unknown	—	Disgenet	—
		WDR12	Unknown	25915632	CTD, Disgenet	Major pathway of rRNA processing in the nucleolus and cytosol
		ZBTB17	Unknown	—	Disgenet	Cell cycle Pathways in cancer Transcriptional misregulation in cancer +2 more
CARDIOMYOPATHY, DILATED, 1FF	C2750091	KLF5	Unknown	—	Disgenet	Chemical carcinogenesis - receptor activation
CARDIOMYOPATHY, DILATED, 1G	C1858763	NOD2	Unknown	—	Disgenet	NOD-like receptor signaling pathway TNF signaling pathway Tuberculosis +7 more
CARDIOMYOPATHY, DILATED, 1G	C1858763	PMS2	Unknown	—	Disgenet	Mismatch repair Fanconi anemia pathway Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) +3 more
CARDIOMYOPATHY, DILATED, 1KK	C3714995	MYLK2	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Vascular smooth muscle contraction +6 more
CARDIOMYOPATHY, DILATED, 1OO	620247 C5830291	VEZF1	Unknown	—	Disgenet, HPO	—
CARDIOMYOPATHY, DILATED, 1Y	C2678476	MED12	Unknown	—	Disgenet	Thyroid hormone signaling pathway PPARA activates gene expression Generic Transcription Pathway +1 more
CARDIOMYOPATHY, DILATED, 2A	C2678474	DNAAF3	Unknown	—	Disgenet	—
CARDIOMYOPATHY, DILATED, 2C	C4748647	CCDC30	Unknown	—	Disgenet	—
CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	C1853863	MYH7B	Unknown	—	Disgenet	Motor proteins Cytoskeleton in muscle cells
DILATED CARDIOMYOPATHY	EFO_0000407 MONDO:0005021	ARHGEF3	Unknown	29495422	GWAS catalog	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
		BAG5	Unknown	35044787 35288587 36130910 37873655 38796549	ClinGen, GWAS catalog	Regulation of HSF1-mediated heat shock response
		BOC	Unknown	29495422	GWAS catalog	Hedgehog signaling pathway Axon guidance Myogenesis +1 more
		BOLL	Unknown	29495422	GWAS catalog	—
		CCDC136	Unknown	39572784	GWAS catalog	—
		CCDC149	Unknown	29495422	GWAS catalog	—
		CDH10	Unknown	29495422	GWAS catalog	Adherens junctions interactions
		CDKN1A	Unknown	39572784	GWAS catalog	Endocrine resistance Platinum drug resistance ErbB signaling pathway +56 more
		DNAH17	Unknown	29495422	GWAS catalog	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAJC18	Unknown	39572784	GWAS catalog	—
		FAAP20	Unknown	39572784	GWAS catalog	Fanconi Anemia Pathway
		FAM120B	Unknown	29495422	GWAS catalog	PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation
		FERMT2	Unknown	39572784	GWAS catalog	Cell-extracellular matrix interactions
		FGF12	Unknown	29495422	GWAS catalog	Phase 0 - rapid depolarisation
		GNPNAT1	Unknown	39572784	GWAS catalog	Amino sugar and nucleotide sugar metabolism Metabolic pathways Biosynthesis of nucleotide sugars +1 more
		HLF	Unknown	39572784	GWAS catalog	—
		HSPA4	Unknown	39572784	GWAS catalog	Tight junction Antigen processing and presentation Lipid and atherosclerosis +1 more
		HSPB7	Unknown	39572784	GWAS catalog	—
		IFTAP	Unknown	29495422	GWAS catalog	—
		IL19	Unknown	29495422	GWAS catalog	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor JAK-STAT signaling pathway +1 more
		JPH3	Unknown	29495422	GWAS catalog	—
		LMF1	Unknown	39572784	GWAS catalog	Assembly of active LPL and LIPC lipase complexes
		LMOD2	Unknown	26487682 26873245 27274810 31517052 34888509 35082396 35188328 37296576	ClinGen, Disgenet	Cytoskeleton in muscle cells
		LSM3	Unknown	33495596 33677556 39572784	GWAS catalog	RNA degradation Spliceosome mRNA decay by 5' to 3' exoribonuclease +1 more
		MAIP1	Unknown	39572784	GWAS catalog	Processing of SMDT1
		MAP3K7	Unknown	39572784	GWAS catalog	MAPK signaling pathway NF-kappa B signaling pathway Autophagy - animal +42 more
		MAP3K7CL	Unknown	39572784	GWAS catalog	—
		MAPT	Unknown	39572784	GWAS catalog	MAPK signaling pathway Alzheimer disease Parkinson disease +2 more
		MARS2	Unknown	29495422	GWAS catalog	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
		MGAM	Unknown	29495422	GWAS catalog	Galactose metabolism Starch and sucrose metabolism Metabolic pathways +3 more
		MLF1	Unknown	39572784	GWAS catalog	Transcriptional misregulation in cancer
		NFIA	Unknown	39572784	GWAS catalog	—
		NMB	Unknown	33495596	GWAS catalog	Neuroactive ligand-receptor interaction Peptide ligand-binding receptors G alpha (q) signalling events
		NXPH1	Unknown	29495422	GWAS catalog	—
		OR2F2	Unknown	29495422	GWAS catalog	Olfactory transduction Olfactory Signaling Pathway
		PARD3B	Unknown	29495422	GWAS catalog	—
		PHACTR1	Unknown	29495422	GWAS catalog	—
		PITX2	Unknown	39572784	GWAS catalog	TGF-beta signaling pathway TFAP2 (AP-2) family regulates transcription of other transcription factors
		PKD1	Unknown	33677556	GWAS catalog	VxPx cargo-targeting to cilium
		ZBTB17	Unknown	21459883 33495596	GWAS catalog	Cell cycle Pathways in cancer Transcriptional misregulation in cancer +2 more
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	154	BAG5	Unknown	35044787	Orphanet	Regulation of HSF1-mediated heat shock response
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	154	VEZF1	Unknown	36657711	Orphanet	—
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	C5679590	BAG5	Unknown	—	Disgenet	Regulation of HSF1-mediated heat shock response
		LMOD2	Unknown	35188328 31517052 35082396 34888509	Disgenet	Cytoskeleton in muscle cells
		VEZF1	Unknown	—	Disgenet	—
IDIOPATHIC DILATED CARDIOMYOPATHY	EFO_0009094	ARHGEF3	Unknown	29495422	GWAS catalog	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
		BOC	Unknown	29495422	GWAS catalog	Hedgehog signaling pathway Axon guidance Myogenesis +1 more
		BOLL	Unknown	29495422	GWAS catalog	—
		CCDC149	Unknown	29495422	GWAS catalog	—
		CDH10	Unknown	29495422	GWAS catalog	Adherens junctions interactions
		DNAH17	Unknown	29495422	GWAS catalog	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		FAM120B	Unknown	29495422	GWAS catalog	PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation
		FGF12	Unknown	29495422	GWAS catalog	Phase 0 - rapid depolarisation
		IFTAP	Unknown	29495422	GWAS catalog	—
		IL19	Unknown	29495422	GWAS catalog	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor JAK-STAT signaling pathway +1 more
		JPH3	Unknown	29495422	GWAS catalog	—
		MARS2	Unknown	29495422	GWAS catalog	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
		MGAM	Unknown	29495422	GWAS catalog	Galactose metabolism Starch and sucrose metabolism Metabolic pathways +3 more
		NXPH1	Unknown	29495422	GWAS catalog	—
		OR2F2	Unknown	29495422	GWAS catalog	Olfactory transduction Olfactory Signaling Pathway
		PARD3B	Unknown	29495422	GWAS catalog	—
		PHACTR1	Unknown	29495422	GWAS catalog	—
		ZBTB17	Unknown	21459883	GWAS catalog	Cell cycle Pathways in cancer Transcriptional misregulation in cancer +2 more

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Dilated cardiomyopathy

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