Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CARDIOMYOPATHY, DILATED	C0007193 MESH:D002311	LAMA4	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
		LAMP2	Unknown	—	Disgenet	Virion - Hepatitis viruses Virion - Lassa virus and SFTS virus Autophagy - animal +5 more
		LDB3	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		LEPR	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Neuroactive ligand-receptor interaction Hormone signaling +4 more
		LMNA	Unknown	10580070 15996213 20019332 21689390	CTD, Disgenet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
		LRRC10	Unknown	—	Disgenet	—
		LZTR1	Unknown	—	Disgenet	—
		MEF2A	Unknown	—	Disgenet	cGMP-PKG signaling pathway Apelin signaling pathway Parathyroid hormone synthesis, secretion and action +2 more
		MIB1	Unknown	—	Disgenet	Lipid and atherosclerosis Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD Domain Mutants +1 more
		MMP1	Unknown	—	Disgenet	PPAR signaling pathway IL-17 signaling pathway Relaxin signaling pathway +11 more
		MYBPC3	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +1 more
		MYH14	Unknown	—	Disgenet	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +5 more
		MYH6	Unknown	15998695	CTD, Disgenet	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		MYH7	Unknown	11986409	CTD, Disgenet	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
		MYL2	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Apelin signaling pathway +12 more
		MYL3	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Apelin signaling pathway +5 more
		MYLK3	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Vascular smooth muscle contraction +6 more
		MYOM1	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		MYPN	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		MYZAP	Unknown	—	Disgenet	—
		NCAPH2	Unknown	—	Disgenet	Condensation of Prophase Chromosomes
		NEBL	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		NEDD4L	Unknown	—	Disgenet	Ubiquitin mediated proteolysis Endocytosis Tight junction +5 more
		NEXN	Unknown	—	Disgenet	—
		NFATC4	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Efferocytosis +10 more
		NKX2-5	Unknown	28973413	CTD, Disgenet	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
		NPPA	Unknown	11986409 16762803	CTD, Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway HIF-1 signaling pathway +11 more
		NPPB	Unknown	16762803 18628775	CTD, Disgenet	cGMP-PKG signaling pathway Hormone signaling Vascular smooth muscle contraction +1 more
		NR3C2	Unknown	21321305	CTD, Disgenet	Aldosterone-regulated sodium reabsorption HSP90 chaperone cycle for steroid hormone receptors (SHR) Nuclear Receptor transcription pathway +1 more
		NRAP	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		OBSCN	Unknown	—	Disgenet	Cytoskeleton in muscle cells NRAGE signals death through JNK Rho GTPase cycle +1 more
		PDLIM3	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		PHACTR2	Unknown	—	Disgenet	Platelet degranulation
		PKP2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Keratinization +1 more
		PLEC	Unknown	—	Disgenet	Cytoskeleton in muscle cells Assembly of collagen fibrils and other multimeric structures Caspase-mediated cleavage of cytoskeletal proteins +1 more
		PLEKHM2	Unknown	—	Disgenet	Salmonella infection
		PLN	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +6 more
		PPP1R13L	Unknown	—	Disgenet	NF-kappa B signaling pathway p53 signaling pathway Regulation of TP53 Activity through Association with Co-factors
		PPP3R1	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
		PRDM16	Unknown	—	Disgenet	Lysine degradation Metabolic pathways Thermogenesis +1 more
		PRKAG2	Unknown	—	Disgenet	FoxO signaling pathway AMPK signaling pathway Longevity regulating pathway +19 more
		PRKCA	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +87 more
		PRKCB	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +77 more
		PSEN1	Unknown	17186461	CTD, Disgenet	Wnt signaling pathway Notch signaling pathway Neurotrophin signaling pathway +12 more
		PSEN2	Unknown	17186461	CTD, Disgenet	Notch signaling pathway Neurotrophin signaling pathway Alzheimer disease +9 more
		RAC1	Unknown	16155095	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +89 more
		RAF1	Unknown	24777450	CTD, Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
		RBM20	Unknown	—	Disgenet	—
		RBPJ	Unknown	—	Disgenet	Notch signaling pathway Th1 and Th2 cell differentiation Spinocerebellar ataxia +12 more
		RENBP	Unknown	12612874	CTD, Disgenet	Amino sugar and nucleotide sugar metabolism Metabolic pathways Synthesis of UDP-N-acetyl-glucosamine
CARDIOMYOPATHY, DILATED, 1A	115200	LMNA	Unknown	—	HPO	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
CARDIOMYOPATHY, DILATED, 1C	C1832244 MESH:C563307	LDB3	Unknown	—	CTD, Disgenet	Cytoskeleton in muscle cells
CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION	601493	LDB3	Unknown	—	HPO	Cytoskeleton in muscle cells
CARDIOMYOPATHY, DILATED, 1CC	613122 C2751084 MESH:C567733	NEXN	Unknown	—	CTD, Disgenet, HPO	—
CARDIOMYOPATHY, DILATED, 1D	C1832243	LMNA	Unknown	—	Disgenet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
CARDIOMYOPATHY, DILATED, 1DD	613172 C2750995 MESH:C567725	RBM20	Unknown	—	CTD, Disgenet, HPO	—
CARDIOMYOPATHY, DILATED, 1EE	613252 C2750466 MESH:C567683	MYH6	Unknown	—	CTD, Disgenet, HPO	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
CARDIOMYOPATHY, DILATED, 1I	C1858154	MYBPC3	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +1 more
CARDIOMYOPATHY, DILATED, 1JJ	615235 C3808935 OMIM:615235	LAMA4	Unknown	—	CTD, Disgenet, HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
CARDIOMYOPATHY, DILATED, 1KK	615248 C3714995 OMIM:615248	MYPN	Unknown	—	CTD, Disgenet, HPO	Cytoskeleton in muscle cells
CARDIOMYOPATHY, DILATED, 1MM	C3809346	MYBPC3	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +1 more
CARDIOMYOPATHY, DILATED, 1NN	615916 C4014656 OMIM:615916	RAF1	Unknown	—	CTD, Disgenet, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
CARDIOMYOPATHY, DILATED, 1P	609909 C1835928 MESH:C563690	PLN	Unknown	—	CTD, Disgenet, HPO	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +6 more
CARDIOMYOPATHY, DILATED, 1S	C1834481 613426 MESH:C563538	LMNA	Unknown	—	Disgenet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
		MYH7	Unknown	—	CTD, Disgenet, HPO	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
		MYL2	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Apelin signaling pathway +12 more
		NEXN	Unknown	—	Disgenet	—
		PKP2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Keratinization +1 more
		RBM20	Unknown	—	Disgenet	—
CARDIOMYOPATHY, DILATED, 1U	613694 C3160720 MESH:C566296	PSEN1	Unknown	—	CTD, Disgenet, HPO	Wnt signaling pathway Notch signaling pathway Neurotrophin signaling pathway +12 more
CARDIOMYOPATHY, DILATED, 1V	613697 C3150958 MESH:C566856	PSEN2	Unknown	—	CTD, Disgenet, HPO	Notch signaling pathway Neurotrophin signaling pathway Alzheimer disease +9 more
CARDIOMYOPATHY, DILATED, 2L	621237	LDB3	Unknown	—	ClinVar	Cytoskeleton in muscle cells
CARDIOMYOPATHY, DILATED, 2M	621261	NEXN	Unknown	—	ClinVar	—
CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM	212112 OMIM:212112	LMNA	Unknown	—	CTD, HPO	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
DILATED CARDIOMYOPATHY	MONDO:0005021 EFO_0000407	LAMA4	Unknown	16204254 17646580 30650640	ClinGen, Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
		LDB3	Unknown	10391924 10427098 11696561 12499364 14660611 14662268 16476425 16982050 19028670 19377068 21303826 34966794 36253531 36865889	ClinGen, Disgenet	Cytoskeleton in muscle cells
		LMNA	Unknown	10580070 11561226 11792809 11792810 12486434 12783988 12854972 15219508 15972724 18035086 18182166 19375354 19875404 20160190 31670395 31983221	ClinGen, GWAS catalog	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
		MIB1	Unknown	12351649 23314057 29540472	ClinGen, Orphanet	Lipid and atherosclerosis Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD Domain Mutants +1 more
		MYBPC3	Unknown	10545522 11909824 12379228 12951062 15671604 18957093 19269976 19293840 19590044 20215591 21483645 21750094 22464770 22855556 24062880 24119082 26084686 26458567 27173948 29095814 29493010 30871747 31015724 31179125 31524317 31983	ClinGen, Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +1 more
		MYH6	Unknown	10700442 15998695 20215591 24119082 25163546 26458567 26719419 26899768 27532257 28088328 28416588 28611029 31983221 34011823 34946895 8878443 9410910	ClinGen, GWAS catalog	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		MYH7	Unknown	11106718 16983074 21483645 21846512 24119082 24558114 25935763 27000522 27965028 28864942 29093449 29666183 30384889 30874888 31179125 31937807 31983221	ClinGen, GWAS catalog	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
		MYL2	Unknown	16809551 22426213 25825243 29463717 30605904 7236212 8316857 9422794	ClinGen, GWAS catalog	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Apelin signaling pathway +12 more
		MYL3	Unknown	—	ClinGen	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Apelin signaling pathway +5 more
		MYLK3	Unknown	29235529 31244672 32870709 30690923 32213617	ClinGen, GenCC	Calcium signaling pathway cGMP-PKG signaling pathway Vascular smooth muscle contraction +6 more
		MYPN	Unknown	11309420 12482578 14583192 18006477 19608031 22286171 22892539 24558114 25163546 25448463 25541130 26383716 26458567 28416588 28515850 29095814 30764827 31524317 31737537 32041989 32880476 34558411	ClinGen, GWAS catalog	Cytoskeleton in muscle cells
		MYZAP	Unknown	20093627 34899865 35840178 38436102	ClinGen, GWAS catalog	—
		NEBL	Unknown	20951326	ClinGen, GWAS catalog	Cytoskeleton in muscle cells
		NEDD4L	Unknown	39572784	GWAS catalog	Ubiquitin mediated proteolysis Endocytosis Tight junction +5 more
		NEXN	Unknown	12053183 19881492 24503780 25163546 26659360 27532257 28333919 28416588 29540472 30982350 31983221 32041989 32635769 32814711 33949776 35166435 36264615 36788754 37198425 38059363 38114601 38783323	ClinGen	—
		NKX2-5	Unknown	11457872 15109497 23661673 27855642 28352650 30354339 31948008	GWAS catalog	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
		NRAP	Unknown	10320340 12692149 12789664 28611399 30384889 32870709 33534821 35288587 36672924 36815016	ClinGen, Disgenet	Cytoskeleton in muscle cells
		OBSCN	Unknown	11448995 26406308 27855815 28750076	ClinGen, GWAS catalog	Cytoskeleton in muscle cells NRAGE signals death through JNK Rho GTPase cycle +1 more
		PDLIM3	Unknown	—	ClinGen	Cytoskeleton in muscle cells
		PHACTR2	Unknown	—	GenCC	Platelet degranulation
		PKP2	Unknown	—	ClinGen	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Keratinization +1 more
		PLEKHM2	Unknown	26464484 35862026 37349842 37795486 38490981	ClinGen, Disgenet	Salmonella infection
		PPP1R13L	Unknown	32666529 28069640	ClinVar	NF-kappa B signaling pathway p53 signaling pathway Regulation of TP53 Activity through Association with Co-factors
		PRDM16	Unknown	23768516 29367541 33086060 34915728 37395136 37842925 38113297 39304345 40935858	CTD, ClinGen	Lysine degradation Metabolic pathways Thermogenesis +1 more
		PRKCA	Unknown	33495596	GWAS catalog	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +87 more
		PSEN1	Unknown	—	ClinGen	Wnt signaling pathway Notch signaling pathway Neurotrophin signaling pathway +12 more
		RBM20	Unknown	19712804 20590677 21846512 22004663 22466703 23861363 25163546 25448463 25979592 26084686 26458567 26604136 27496873 28941705 29650543 29895960 30611920 30871348	CTD, ClinGen	—
DILATED CARDIOMYOPATHY 1JJ	MONDO:0014095	LAMA4	Unknown	17646580 26406308 26656175 28416588 28798025 29415625 30165862 30650640 31534214 31983221 32880476 34036930	ClinVar, Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
DILATED CARDIOMYOPATHY 1V	MONDO:0013373	PSEN2	Unknown	—	ClinVar	Notch signaling pathway Neurotrophin signaling pathway Alzheimer disease +9 more
DMD-ASSOCIATED DILATED CARDIOMYOPATHY	C3668940	LAMA4	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
DMD-ASSOCIATED DILATED CARDIOMYOPATHY	C3668940	PKP2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Keratinization +1 more
FAMILIAL DILATED CARDIOMYOPATHY	C0340427 MONDO:0016333	LDB3	Unknown	—	Disgenet, GenCC	Cytoskeleton in muscle cells
		LMNA	Unknown	—	Disgenet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
		MYBPC3	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +1 more
		MYH6	Unknown	—	Disgenet	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		MYH7	Unknown	—	Disgenet	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
		MYPN	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		NEXN	Unknown	—	Disgenet	—
		PKP2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Keratinization +1 more
		RBM20	Unknown	—	Disgenet	—
FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION	300751 C4707865	LMNA	Unknown	20301717	Disgenet, Orphanet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	154 MONDO:0015470	LAMA4	Unknown	17646580	GWAS catalog, Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
		LDB3	Unknown	14660611 14662268 20301486	Disgenet, Orphanet	Cytoskeleton in muscle cells
		LMNA	Unknown	24846508	GWAS catalog, Orphanet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
		MYBPC3	Unknown	20215591 20301486	Disgenet, Orphanet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +1 more
		MYH6	Unknown	15998695 20215591 20301486	Disgenet, Orphanet	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		MYH7	Unknown	11106718 20301486	CTD, Orphanet	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
		MYPN	Unknown	18006477 22892539	GWAS catalog, Orphanet	Cytoskeleton in muscle cells
		NEXN	Unknown	19881492 20301486	Disgenet, Orphanet	—
		PLN	Unknown	12610310 20301486	GWAS catalog, Orphanet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +6 more
		PRDM16	Unknown	23768516	CTD, Orphanet	Lysine degradation Metabolic pathways Thermogenesis +1 more
		PSEN1	Unknown	17186461 20301486	CTD, Orphanet	Wnt signaling pathway Notch signaling pathway Neurotrophin signaling pathway +12 more
		PSEN2	Unknown	17186461 20301486	GenCC, Orphanet	Notch signaling pathway Neurotrophin signaling pathway Alzheimer disease +9 more
		RAF1	Unknown	24777450	ClinVar, Orphanet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
		RBM20	Unknown	19712804 20301486	GenCC, Orphanet	—
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	C5679590	LAMA4	Unknown	33947203	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
		LDB3	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		LMNA	Unknown	—	Disgenet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
		MYBPC3	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +1 more
		MYH6	Unknown	—	Disgenet	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		MYH7	Unknown	11106718 29093449 29300372 29666183 31983221	Disgenet	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
		MYPN	Unknown	33947203	Disgenet	Cytoskeleton in muscle cells
		NEXN	Unknown	—	Disgenet	—
		PLN	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +6 more
		PRDM16	Unknown	33947203	Disgenet, ClinGen	Lysine degradation Metabolic pathways Thermogenesis +1 more
		PSEN1	Unknown	—	Disgenet	Wnt signaling pathway Notch signaling pathway Neurotrophin signaling pathway +12 more
		PSEN2	Unknown	—	Disgenet	Notch signaling pathway Neurotrophin signaling pathway Alzheimer disease +9 more
		RAF1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
		RBM20	Unknown	—	Disgenet	—
PRIMARY DILATED CARDIOMYOPATHY		LDB3	Unknown	33947203	ClinVar	Cytoskeleton in muscle cells
		MYH6	Unknown	33947203	ClinVar	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		NEXN	Unknown	—	ClinVar	—
		PSEN1	Unknown	—	ClinVar	Wnt signaling pathway Notch signaling pathway Neurotrophin signaling pathway +12 more
		PSEN2	Unknown	33947203	ClinVar	Notch signaling pathway Neurotrophin signaling pathway Alzheimer disease +9 more

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Dilated cardiomyopathy

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