Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CARDIOMYOPATHY, DILATED, 100	MONDO:0859381	VEZF1	Causal	—	ClinVar, GenCC	—
CARDIOMYOPATHY, DILATED, 1LL	C3809289	PRDM16	Causal	—	Disgenet	Lysine degradation Metabolic pathways Thermogenesis +1 more
CARDIOMYOPATHY, DILATED, 2C	618189 C4748647 MONDO:0032592	PPCS	Causal	29754768	ClinVar, Disgenet, HPO	Pantothenate and CoA biosynthesis Metabolic pathways Biosynthesis of cofactors +1 more
CARDIOMYOPATHY, DILATED, 2D	619371 C5543535 MONDO:0030300	RPL3L	Causal	32514796	ClinVar, Disgenet, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
CARDIOMYOPATHY, DILATED, 2E	619492 C5561970 MONDO:0030366	JPH2	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
CARDIOMYOPATHY, DILATED, 2F	619747 C5676917 MONDO:0030680	BAG5	Causal	35044787	ClinVar, Disgenet, GWAS catalog, HPO	Regulation of HSF1-mediated heat shock response
CARDIOMYOPATHY, DILATED, 2G	619897 C5676995 MONDO:0030887	LMOD2	Causal	37296576 35188328 35082396 34888509 31517052	CTD, ClinVar, Disgenet, HPO	Cytoskeleton in muscle cells
CARDIOMYOPATHY, DILATED, 2H	620203 C5774296 MONDO:0859358	GET3	Causal	—	ClinVar, Disgenet, HPO	Protein export
CARDIOMYOPATHY, DILATED, 2I	620462 C5830685 MONDO:0957545	CAP2	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
CARDIOMYOPATHY, DILATED, 2J	620635 C5882725 MONDO:0957984	FLII	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
CARDIOMYOPATHY, DILATED, 2K	620894 C5935636 MONDO:0971175	MYZAP	Causal	—	ClinVar, Disgenet, HPO	—
CARDIOMYOPATHY, DILATED, WITH WOOLY HAIR, KERATODERMA, AND TOOTH AGENESIS	MONDO:0014355	DSP	Causal	—	ClinVar, GenCC	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
DILATED CARDIOMYOPATHY 1A	MONDO:0007269	LMNA	Causal	—	ClinVar, GenCC	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
DILATED CARDIOMYOPATHY 1AA	MONDO:0012808	ACTN2	Causal	—	ClinVar, GenCC	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Platelet degranulation +3 more
DILATED CARDIOMYOPATHY 1BB	MONDO:0013030	DSG2	Causal	16773573 20031617 20864495 21859740 23381804 23810894 24070718 25172079 28818065 30177324	ClinVar, GWAS catalog	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
DILATED CARDIOMYOPATHY 1C	MONDO:0011094	LDB3	Causal	—	ClinVar	Cytoskeleton in muscle cells
DILATED CARDIOMYOPATHY 1CC	MONDO:0013147	NEXN	Causal	19881492 20970104 24503780 25163546 28416588 29540472 31983221 32041989 32814711 32870709	ClinVar, Disgenet	—
DILATED CARDIOMYOPATHY 1D	MONDO:0011095	TNNT2	Causal	—	ClinVar, GenCC	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
DILATED CARDIOMYOPATHY 1DD	MONDO:0013168	RBM20	Causal	19712804 22466703 29650543 32789749 25979592 26084686 21846512 20590677 22004663 29895960 30871348 30871351 32851336 29367541 27496873	ClinVar, GWAS catalog	—
DILATED CARDIOMYOPATHY 1E	MONDO:0011003	SCN5A	Causal	—	ClinVar, GenCC	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
DILATED CARDIOMYOPATHY 1EE	MONDO:0013198	MYH6	Causal	—	ClinVar	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
DILATED CARDIOMYOPATHY 1FF	MONDO:0013211	TNNI3	Causal	11055985 11273720 11724573 11735257 15607392 19590045 19914256 20086309 20817590 22027658 22464770 22675533 226755333 22876777 242568 24503780 280804 30165862 9241277	ClinVar, GWAS catalog	cAMP signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
DILATED CARDIOMYOPATHY 1G	MONDO:0011400	TTN	Causal	—	ClinVar, GenCC	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
DILATED CARDIOMYOPATHY 1GG	MONDO:0013339	SDHA	Causal	—	ClinVar, GenCC	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
DILATED CARDIOMYOPATHY 1HH	MONDO:0013479	BAG3	Causal	23518596 20884878 26796036 21353195 25008357 27391596 30442290 31983221 21898660 28737513 31808029 32160020	ClinVar, GWAS catalog	Regulation of HSF1-mediated heat shock response
DILATED CARDIOMYOPATHY 1I	MONDO:0011482	DES	Causal	17626518 17325244 10430757 11728149 23300193 23349452 26724190	ClinVar, GWAS catalog	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
DILATED CARDIOMYOPATHY 1II	MONDO:0014073	CRYAB	Causal	14681890 16483541 16793013 23194663 23197161	ClinVar, GWAS catalog	Protein processing in endoplasmic reticulum Longevity regulating pathway - multiple species HSF1-dependent transactivation
DILATED CARDIOMYOPATHY 1J	MONDO:0011541	EYA4	Causal	10769282 15735644	ClinGen, ClinVar, Disgenet	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
DILATED CARDIOMYOPATHY 1KK	MONDO:0014100	MYPN	Causal	10886477 18006477 22286171 22892539 25163546 25448463 26383716 26458567 28416588 29095814 30471092 31737537 31983221 32041989 32746448 34088380	ClinVar, GWAS catalog	Cytoskeleton in muscle cells
DILATED CARDIOMYOPATHY 1L	MONDO:0011702	SGCD	Causal	—	ClinVar	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
DILATED CARDIOMYOPATHY 1M	MONDO:0011840	CSRP3	Causal	—	ClinVar, GenCC	Cytoskeleton in muscle cells
DILATED CARDIOMYOPATHY 1NN	MONDO:0014396	RAF1	Causal	24777450	ClinVar, GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
DILATED CARDIOMYOPATHY 1O	MONDO:0012062	ABCC9	Causal	15034580 24439875 24503780 26899768 27532257	ClinVar, Disgenet	ABC transporters ATP sensitive Potassium channels ABC-family proteins mediated transport +2 more
DILATED CARDIOMYOPATHY 1P	MONDO:0012362	PLN	Causal	12639993 16432188 33020536 21167350	ClinVar, GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +6 more
DILATED CARDIOMYOPATHY 1R	MONDO:0013261	ACTC1	Causal	19799913 21524215 22464770 24503780 9563954	ClinVar, GWAS catalog	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
DILATED CARDIOMYOPATHY 1S	MONDO:0013262	MYH7	Causal	29300372 31983221 11106718 29666183 29093449	ClinVar, GWAS catalog	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
DILATED CARDIOMYOPATHY 1U	MONDO:0013371	PSEN1	Causal	17186461 17431506 18045903 20194882 24217025	ClinVar, Disgenet	Wnt signaling pathway Notch signaling pathway Neurotrophin signaling pathway +12 more
DILATED CARDIOMYOPATHY 1X	MONDO:0012704	FKTN	Causal	—	ClinVar, GenCC	Mannose type O-glycan biosynthesis Metabolic pathways
DILATED CARDIOMYOPATHY 1Y	MONDO:0012744	TPM1	Causal	10400910 10900175 11603924 22462493 22464770 24005378 24503780 8205619 8327508	CTD, ClinVar	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +6 more
DILATED CARDIOMYOPATHY 1Z	MONDO:0012745	TNNC1	Causal	1554228 19808376 17021793 18803402 32038292 27604170 18212018 20458010 27532257 17977476	CTD, ClinVar	Calcium signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +5 more
DILATED CARDIOMYOPATHY 2A	MONDO:0012746	TNNI3	Causal	—	ClinVar, GenCC	cAMP signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
DILATED CARDIOMYOPATHY 2B	MONDO:0013848	GATAD1	Causal	—	ClinVar, GenCC	—
DILATED CARDIOMYOPATHY 3B	MONDO:0010542	DMD	Causal	—	ClinVar, GenCC	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	154 MONDO:0015470	LMOD2	Causal	35082396	Orphanet	Cytoskeleton in muscle cells
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	154 MONDO:0015470	TNNT2	Causal	11684629 15542288 20301486	ClinVar, Orphanet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
PRIMARY DILATED CARDIOMYOPATHY		ACTC1	Causal	—	ClinVar	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
		ACTN2	Causal	—	ClinVar	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Platelet degranulation +3 more
		BAG3	Causal	20884878 21353195 21898660 23518596 25008357 26796036 27391596 28737513 30442290 31808029 31983221 32160020	ClinVar	Regulation of HSF1-mediated heat shock response
		CSRP3	Causal	33947203	ClinVar	Cytoskeleton in muscle cells
		DES	Causal	10430757 11728149 17325244 17626518 23300193 23349452 26724190	ClinVar	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		LMNA	Causal	10580070 10662742 11897440 12854972 12920062 18926329 20127487 28912180 29095976 29367541 31983221	ClinVar	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
		MYBPC3	Causal	33947203	ClinVar, ClinGen	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +1 more
		PLN	Causal	—	ClinVar	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +6 more
		RBM20	Causal	19712804 20590677 21846512 22004663 22466703 25979592 26084686 27496873 29367541 29650543 29895960 30871348 30871351 32789749 32851336	ClinVar, ClinGen	—
		TAFAZZIN	Causal	—	ClinVar	Glycerophospholipid metabolism
		TCAP	Causal	33947203	ClinVar, ClinGen	Cytoskeleton in muscle cells Striated Muscle Contraction
		TNNT2	Causal	11106718 15542288 20031601 20978592 27532257 29367541	ClinVar	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
		TPM1	Causal	—	ClinVar	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +6 more
		TTN	Causal	11788824 18765796 19789381 22335739 23418287 25589632 25759365 26084686 26315439 27625337 27869827 28045975 29238064 29316444 31849696 32013205 32160020 37253077 9817758 9826585	ClinVar	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
		VCL	Causal	—	ClinVar	Focal adhesion Adherens junction Leukocyte transendothelial migration +14 more

Dilated cardiomyopathy

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