Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ANKRD1-RELATED DILATED CARDIOMYOPATHY		ANKRD1	Unknown	—	ClinVar	Cytoskeleton in muscle cells PPARA activates gene expression
CARDIOMYOPATHY DILATED WITH WOOLLY HAIR AND KERATODERMA	C1854063 MESH:C535581	DSP	Unknown	21193976	CTD, Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
CARDIOMYOPATHY, DILATED	C0007193 MESH:D002311	ABCC9	Unknown	—	Disgenet	ABC transporters ATP sensitive Potassium channels ABC-family proteins mediated transport +2 more
		ABRA	Unknown	16243910	CTD, Disgenet	—
		ACADVL	Unknown	—	Disgenet	Fatty acid degradation Metabolic pathways Fatty acid metabolism +3 more
		ACTA1	Unknown	21570694 30354303 26888179 30195123 16945537 32969603	Disgenet	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
		ACTC1	Unknown	—	CTD, Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
		ACTN2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Platelet degranulation +3 more
		ADRB1	Unknown	9554809	CTD, Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +12 more
		ADRB2	Unknown	11986409	CTD, Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +13 more
		ADRB3	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +9 more
		ANKRD1	Unknown	—	Disgenet	Cytoskeleton in muscle cells PPARA activates gene expression
		BAG3	Unknown	—	Disgenet	Regulation of HSF1-mediated heat shock response
		CAP2	Unknown	—	Disgenet	—
		CRYAB	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Longevity regulating pathway - multiple species HSF1-dependent transactivation
		CSRP3	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		DES	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		DMD	Unknown	11496434	CTD, Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
		DSG2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
		DSP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
		EYA4	Unknown	—	Disgenet	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		FKTN	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
		FLII	Unknown	—	Disgenet	—
		GATAD1	Unknown	—	Disgenet	—
		GET3	Unknown	—	Disgenet	Protein export
		JPH2	Unknown	—	Disgenet	—
		LDB3	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		LMNA	Unknown	10580070 15996213 20019332 21689390	CTD, 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	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
		MYPN	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		MYZAP	Unknown	—	Disgenet	—
		NEXN	Unknown	—	Disgenet	—
		PLN	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +6 more
		PRDM16	Unknown	—	Disgenet	Lysine degradation Metabolic pathways Thermogenesis +1 more
		PSEN1	Unknown	17186461	CTD, Disgenet	Wnt signaling pathway Notch signaling pathway Neurotrophin signaling pathway +12 more
		RAF1	Unknown	24777450	CTD, Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
		RBM20	Unknown	—	Disgenet	—
		RPL3L	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		SCN5A	Unknown	—	Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SDHA	Unknown	—	CTD, Disgenet	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
		SGCD	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		TAFAZZIN	Unknown	—	Disgenet	Glycerophospholipid metabolism
		TCAP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Striated Muscle Contraction
		TNNC1	Unknown	—	Disgenet	Calcium signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +5 more
		TNNI3	Unknown	15070570	CTD, Disgenet	cAMP signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		TNNT2	Unknown	17556660 19477965	CTD, Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
		TPM1	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +6 more
		TTN	Unknown	11846417 17444505 27869827	CTD, Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
		VCL	Unknown	—	Disgenet	Focal adhesion Adherens junction Leukocyte transendothelial migration +14 more
		VEZF1	Unknown	—	Disgenet	—
CARDIOMYOPATHY, DILATED, 100	MONDO:0859381	VEZF1	Causal	—	ClinVar, GenCC	—
CARDIOMYOPATHY, DILATED, 1A	115200	LMNA	Unknown	—	HPO	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
CARDIOMYOPATHY, DILATED, 1AA	C2677338 MESH:C567407	ACTN2	Unknown	—	CTD, Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Platelet degranulation +3 more
CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION	612158	ACTN2	Unknown	—	HPO	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Platelet degranulation +3 more
CARDIOMYOPATHY, DILATED, 1B	C5700078	FKTN	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
CARDIOMYOPATHY, DILATED, 1B	C5700078	TTN	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
CARDIOMYOPATHY, DILATED, 1BB	612877 C2752072 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, 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 601494 MESH:C563306	LMNA	Unknown	—	Disgenet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
CARDIOMYOPATHY, DILATED, 1D	C1832243 601494 MESH:C563306	TNNT2	Unknown	—	CTD, Disgenet, HPO	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
CARDIOMYOPATHY, DILATED, 1DD	613172 C2750995 MESH:C567725	RBM20	Unknown	—	CTD, Disgenet, HPO	—
CARDIOMYOPATHY, DILATED, 1DD	613172 C2750995 MESH:C567725	TNNT2	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
CARDIOMYOPATHY, DILATED, 1E	601154 C1832680 MESH:C563384	SCN5A	Unknown	—	CTD, Disgenet, HPO	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
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, 1FF	613286 C2750091 MESH:C567654	TNNI3	Unknown	—	CTD, Disgenet, HPO	cAMP signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
CARDIOMYOPATHY, DILATED, 1G	C1858763 604145 MESH:C565824	DSP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
CARDIOMYOPATHY, DILATED, 1G	C1858763 604145 MESH:C565824	TTN	Unknown	—	CTD, Disgenet, HPO	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
CARDIOMYOPATHY, DILATED, 1GG	613642 C3150898	SDHA	Unknown	—	Disgenet, HPO	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
CARDIOMYOPATHY, DILATED, 1H	C1858591	ADRB3	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +9 more
CARDIOMYOPATHY, DILATED, 1HH	613881 C3151293 OMIM:613881	BAG3	Unknown	—	CTD, Disgenet, HPO	Regulation of HSF1-mediated heat shock response
CARDIOMYOPATHY, DILATED, 1I	604765 C1858154 MESH:C565752	DES	Unknown	—	CTD, Disgenet, HPO	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
CARDIOMYOPATHY, DILATED, 1I	604765 C1858154 MESH:C565752	MYBPC3	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +1 more
CARDIOMYOPATHY, DILATED, 1II	615184 C3554649 OMIM:615184	CRYAB	Unknown	—	CTD, Disgenet, HPO	Protein processing in endoplasmic reticulum Longevity regulating pathway - multiple species HSF1-dependent transactivation
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, 1KK	615248 C3714995 OMIM:615248	MYPN	Unknown	—	CTD, Disgenet, HPO	Cytoskeleton in muscle cells
CARDIOMYOPATHY, DILATED, 1L	606685 C1847667 MESH:C564679	SGCD	Unknown	—	CTD, Disgenet, HPO	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
CARDIOMYOPATHY, DILATED, 1LL	C3809289	PRDM16	Causal	—	Disgenet	Lysine degradation Metabolic pathways Thermogenesis +1 more
CARDIOMYOPATHY, DILATED, 1M	607482 C1843808 MESH:C564390	CSRP3	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, 1N	MESH:C564388	TCAP	Unknown	—	CTD	Cytoskeleton in muscle cells Striated Muscle Contraction
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, 1O	608569 C1837839 MESH:C563906	ABCC9	Unknown	—	CTD, Disgenet, HPO	ABC transporters ATP sensitive Potassium channels ABC-family proteins mediated transport +2 more
CARDIOMYOPATHY, DILATED, 1OO	620247 C5830291	VEZF1	Unknown	—	Disgenet, HPO	—
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, 1R	613424 C3150681	ACTC1	Unknown	—	Disgenet, HPO	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
CARDIOMYOPATHY, DILATED, 1S	C1834481 613426 MESH:C563538	DSP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
		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
		NEXN	Unknown	—	Disgenet	—
		RBM20	Unknown	—	Disgenet	—
		TNNC1	Unknown	—	Disgenet	Calcium signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +5 more
		TNNT2	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
		TTN	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
		VCL	Unknown	—	Disgenet	Focal adhesion Adherens junction Leukocyte transendothelial migration +14 more
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, 1W	611407 C1969639 MESH:C566954	VCL	Unknown	—	CTD, Disgenet, HPO	Focal adhesion Adherens junction Leukocyte transendothelial migration +14 more
CARDIOMYOPATHY, DILATED, 1X	611615 C1969024 MESH:C566907	FKTN	Unknown	—	CTD, Disgenet, HPO	Mannose type O-glycan biosynthesis Metabolic pathways
CARDIOMYOPATHY, DILATED, 1Y	611878 C2678476 MESH:C567507	TPM1	Unknown	—	CTD, Disgenet, HPO	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +6 more
CARDIOMYOPATHY, DILATED, 1Z	611879 C2678475 MESH:C567506	TNNC1	Unknown	—	CTD, Disgenet, HPO	Calcium signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +5 more
CARDIOMYOPATHY, DILATED, 2A	611880 C2678474 MESH:C567505	TNNI3	Unknown	—	CTD, Disgenet, HPO	cAMP signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
CARDIOMYOPATHY, DILATED, 2B	614672 C3553409 OMIM:614672	GATAD1	Unknown	—	CTD, Disgenet, HPO	—
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, 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, 2L	621237	LDB3	Unknown	—	ClinVar	Cytoskeleton in muscle cells
CARDIOMYOPATHY, DILATED, 2M	621261	NEXN	Unknown	—	ClinVar	—
CARDIOMYOPATHY, DILATED, 3B	302045 OMIM:302045	DMD	Unknown	—	CTD, HPO	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM	212112 OMIM:212112	LMNA	Unknown	—	CTD, HPO	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	C1853863	VCL	Unknown	—	Disgenet	Focal adhesion Adherens junction Leukocyte transendothelial migration +14 more
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA	605676	DSP	Unknown	—	HPO	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS	615821 C4014393 OMIM:615821	DSP	Unknown	—	CTD, Disgenet, HPO	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
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	MONDO:0005021 EFO_0000407	ABCC9	Unknown	15034580 24648545 31575858 31948008	ClinGen, GWAS catalog	ABC transporters ATP sensitive Potassium channels ABC-family proteins mediated transport +2 more
		ACTC1	Unknown	14605248 19799913 20600154 22464770 22751927 26432839 30384889 31430208 31434612 31921954 31983221 34011823 39759977 9114002 9563954	ClinGen, Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
		ACTN2	Unknown	39572784	GWAS catalog	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Platelet degranulation +3 more
		ANKRD1	Unknown	19525294 19608030 25163546 27886618 30847666 31688894 31737537 32041989 33734499	ClinGen, Orphanet	Cytoskeleton in muscle cells PPARA activates gene expression
		BAG3	Unknown	16936253 21353195 21459883 21898660 24623017 25008357 25448463 26796036 27321750 27391596 28164169 28724793 28737513 29323723 31983221 33495596 39572784	ClinGen, GWAS catalog	Regulation of HSF1-mediated heat shock response
		DES	Unknown	10430757 10591032 11728149 17325244 23300193 23349452 25557463 26724190 31514951 31983221	ClinGen, GWAS catalog	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		DSG2	Unknown	21859740 28764973 39706847	ClinGen, GWAS catalog	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
		DSP	Unknown	12366696 24108106 28934278 31983221 32005173	ClinVar	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
		FLII	Unknown	32870709 37126682 37561591 9177775	ClinGen, GWAS catalog	—
		GATAD1	Unknown	21965549 28955713 38605029	ClinGen, Orphanet	—
		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	—
		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
		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
		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	—
		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	—
		PRDM16	Unknown	23768516 29367541 33086060 34915728 37395136 37842925 38113297 39304345 40935858	CTD, ClinGen	Lysine degradation Metabolic pathways Thermogenesis +1 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	—
		RPL3L	Unknown	32514796 32870709 35323613 36291431 37080962 37308880 38254943	ClinGen, GenCC	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		SCN5A	Unknown	15671429 17512504 19808398 20458009 21596231 21824921 22675453 22766342 22999724 29506689 29871609 30218094 31514951 31520233 31930659	ClinGen, GWAS catalog	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		TCAP	Unknown	15582318 19412328 23100327 24037902 26084686 27532257 34011823 39226992 9350988 9817758	CTD, ClinGen	Cytoskeleton in muscle cells Striated Muscle Contraction
		TNNC1	Unknown	15542288 17977476 18212018 19609041 20458010 20566645 21483645 21832052 2250022 24558114 26379556 26458567 31748410 31983221 32038292 4634985	ClinGen, GenCC	Calcium signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +5 more
		TNNI3	Unknown	15070570 19590045 20215591 20817590 21846512 2226790 22464770 23539503 24503780 26406308 27532257 28436080 29093449 31568572 31983221 34036930 34213952 35838873 36157491 36252119	ClinGen, GWAS catalog	cAMP signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		TNNT2	Unknown	11106718 11684629 11967535 15542288 17556660 17932326 20031601 20978592 8088824	ClinGen, GWAS catalog	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
		TPM1	Unknown	11273725 15249230 20117437 20215591 21483645 23147248 25548289 28600229 31643006 31983221 35029218 36739943 39684770	ClinGen, GWAS catalog	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +6 more
		TTN	Unknown	11788824 11788825 16733766 19406126 22335739 23418287 24119082 25589632 25759365 26084686 26315439 27437901 27869827 28045975 29093449 33495596 39572784	ClinGen, ClinVar, GWAS catalog	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
		VCL	Unknown	10320340 11815424 17785437 24062880 26406308 26458567 30900782 31983221 32516855 34386585 35284542 37477868 37548861 6789327 8994410	ClinGen, Disgenet	Focal adhesion Adherens junction Leukocyte transendothelial migration +14 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 1W	MONDO:0012667	VCL	Unknown	11815424 17785437 20474083 24062880 24503780 25163546 26458567 26573135 27532257 30165862 30609409 30923642 32516855	ClinVar, GWAS catalog	Focal adhesion Adherens junction Leukocyte transendothelial migration +14 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
DMD-ASSOCIATED DILATED CARDIOMYOPATHY	C3668940	DMD	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
FAMILIAL DILATED CARDIOMYOPATHY	C0340427 MONDO:0016333 MESH:C536231	ABCC9	Unknown	—	Disgenet	ABC transporters ATP sensitive Potassium channels ABC-family proteins mediated transport +2 more
		ACTN2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Platelet degranulation +3 more
		BAG3	Unknown	—	Disgenet	Regulation of HSF1-mediated heat shock response
		DMD	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
		DSG2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
		DSP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
		FKTN	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
		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	—
		RBM20	Unknown	—	Disgenet	—
		SCN5A	Unknown	—	Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SGCD	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		TAFAZZIN	Unknown	—	Disgenet	Glycerophospholipid metabolism
		TNNI3	Unknown	—	Disgenet	cAMP signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		TNNT2	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
		TTN	Unknown	11788824	CTD, Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
		VCL	Unknown	—	Disgenet	Focal adhesion Adherens junction Leukocyte transendothelial migration +14 more
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	TNNT2	Causal	11684629 15542288 20301486	ClinVar, Orphanet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
		ABCC9	Unknown	15034580	GWAS catalog, Orphanet	ABC transporters ATP sensitive Potassium channels ABC-family proteins mediated transport +2 more
		ACTC1	Unknown	20301486 9563954	CTD, Orphanet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
		ACTN2	Unknown	14567970 25224718 20301486	GWAS catalog, Orphanet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Platelet degranulation +3 more
		ANKRD1	Unknown	19525294 20301486	GWAS catalog, Orphanet	Cytoskeleton in muscle cells PPARA activates gene expression
		BAG3	Unknown	20301486 21353195	GWAS catalog, Orphanet	Regulation of HSF1-mediated heat shock response
		CAP2	Unknown	30518548	Disgenet, Orphanet	—
		CRYAB	Unknown	16483541 16793013	GWAS catalog, Orphanet	Protein processing in endoplasmic reticulum Longevity regulating pathway - multiple species HSF1-dependent transactivation
		CSRP3	Unknown	14567970 20301486	GWAS catalog, Orphanet	Cytoskeleton in muscle cells
		DES	Unknown	10430757 20301486	GWAS catalog, Orphanet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		DMD	Unknown	14567970 20301486	Orphanet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
		DSG2	Unknown	18678517 20301486	Disgenet, Orphanet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
		DSP	Unknown	30993396	ClinGen, Orphanet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
		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	—
		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
		RAF1	Unknown	24777450	ClinVar, Orphanet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
		RBM20	Unknown	19712804 20301486	GenCC, Orphanet	—
		RPL3L	Unknown	32514796	Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		SCN5A	Unknown	15466643 22766342 20301486	GWAS catalog, Orphanet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SDHA	Unknown	20551992	GWAS catalog, Orphanet	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
		SGCD	Unknown	10974018 20301486	GWAS catalog, Orphanet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		TAFAZZIN	Unknown	20301486 7616547 9382096	Orphanet	Glycerophospholipid metabolism
		TCAP	Unknown	15582318 19412328 20301486	Disgenet, Orphanet	Cytoskeleton in muscle cells Striated Muscle Contraction
		TNNC1	Unknown	15542288 20301486	GWAS catalog, Orphanet	Calcium signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +5 more
		TNNI3	Unknown	15070570 19590045 20301486	Disgenet, Orphanet	cAMP signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		TPM1	Unknown	11273725 20301486	GWAS catalog, Orphanet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +6 more
		TTN	Unknown	11788824 20301486	GWAS catalog, Orphanet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
		VCL	Unknown	11815424 20301486	GWAS catalog, Orphanet	Focal adhesion Adherens junction Leukocyte transendothelial migration +14 more
		VEZF1	Unknown	36657711	Orphanet	—
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	C5679590	ABCC9	Unknown	—	Disgenet	ABC transporters ATP sensitive Potassium channels ABC-family proteins mediated transport +2 more
		ACTC1	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
		ACTN2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Platelet degranulation +3 more
		ANKRD1	Unknown	—	Disgenet	Cytoskeleton in muscle cells PPARA activates gene expression
		BAG3	Unknown	—	Disgenet	Regulation of HSF1-mediated heat shock response
		CAP2	Unknown	—	Disgenet	—
		CRYAB	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Longevity regulating pathway - multiple species HSF1-dependent transactivation
		CSRP3	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		DES	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		DMD	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
		DSG2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
		DSP	Unknown	20716751 23022708 24503780 27532257 31317183 31983221 32005173 32013205	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
		FKTN	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
		GATAD1	Unknown	33947203	Disgenet	—
		GET3	Unknown	—	Disgenet	Protein export
		JPH2	Unknown	—	Disgenet, ClinGen	—
		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
		RAF1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
		RBM20	Unknown	—	Disgenet	—
		RPL3L	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		SCN5A	Unknown	15466643 15671429 19808398 21596231 22675453 22999724 26916278 27532257 30847666	Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SDHA	Unknown	—	Disgenet	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
		SGCD	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		TAFAZZIN	Unknown	—	Disgenet	Glycerophospholipid metabolism
		TCAP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Striated Muscle Contraction
		TNNC1	Unknown	1554228 17021793 17977476 18212018 18803402 19808376 20458010 27532257 27604170 32038292	Disgenet	Calcium signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +5 more
		TNNI3	Unknown	—	Disgenet	cAMP signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		TNNT2	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
		TPM1	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +6 more
		TTN	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
		VCL	Unknown	—	Disgenet	Focal adhesion Adherens junction Leukocyte transendothelial migration +14 more
		VEZF1	Unknown	—	Disgenet	—
IDIOPATHIC DILATED CARDIOMYOPATHY	EFO_0009094	BAG3	Unknown	21459883	GWAS catalog	Regulation of HSF1-mediated heat shock response
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
		ABCC9	Unknown	33947203	ClinVar	ABC transporters ATP sensitive Potassium channels ABC-family proteins mediated transport +2 more
		ANKRD1	Unknown	33947203	ClinVar, ClinGen	Cytoskeleton in muscle cells PPARA activates gene expression
		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
		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
		SGCD	Unknown	33947203	ClinVar	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more

«‹12 3…6 ›»

Dilated cardiomyopathy

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