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
		AFF4	Unknown	—	Disgenet	Viral life cycle - HIV-1 Formation of RNA Pol II elongation complex RNA Polymerase II Pre-transcription Events +1 more
		AKAP9	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +7 more
		ALMS1	Unknown	22447358	CTD, Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		ANK2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Proteoglycans in cancer Interaction between L1 and Ankyrins +1 more
		ANKRD1	Unknown	—	Disgenet	Cytoskeleton in muscle cells PPARA activates gene expression
		APOE	Unknown	—	Disgenet	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		ATM	Unknown	24358288	CTD, Disgenet	Platinum drug resistance Homologous recombination NF-kappa B signaling pathway +33 more
		AXIN2	Unknown	29394407	CTD, Disgenet	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells +15 more
		BAG3	Unknown	—	Disgenet	Regulation of HSF1-mediated heat shock response
		BRAF	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +52 more
		C10ORF71	Unknown	—	Disgenet	—
		C2ORF49	Unknown	—	Disgenet	—
		CACNA1C	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
		CACNB2	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		CACNB4	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		CALR3	Unknown	—	Disgenet	—
		CAP2	Unknown	—	Disgenet	—
		CASZ1	Unknown	27693370 36293425 37509718 28099117 31268246	Disgenet	—
		CAVIN4	Unknown	—	Disgenet	—
		CD27	Unknown	12031769	CTD, Disgenet	Cytokine-cytokine receptor interaction TNFs bind their physiological receptors
		CD36	Unknown	10981864	CTD, Disgenet	PPAR signaling pathway Phagosome Efferocytosis +24 more
		CD70	Unknown	12031769	CTD, Disgenet	Cytokine-cytokine receptor interaction TNFs bind their physiological receptors
		CDH2	Unknown	—	Disgenet	Cell adhesion molecules Arrhythmogenic right ventricular cardiomyopathy Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +3 more
		CDK8	Unknown	—	Disgenet	PPARA activates gene expression Generic Transcription Pathway SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription +3 more
		CEP85L	Unknown	—	Disgenet	—
		CHD7	Unknown	—	Disgenet	—
		CHRM2	Unknown	—	Disgenet	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction +7 more
		COL1A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COMT	Unknown	—	Disgenet	Steroid hormone biosynthesis Tyrosine metabolism Metabolic pathways +4 more
		CRYAB	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Longevity regulating pathway - multiple species HSF1-dependent transactivation
		CS	Unknown	—	Disgenet	Citrate cycle (TCA cycle) Glyoxylate and dicarboxylate metabolism Metabolic pathways +4 more
		CSF3	Unknown	17334414	CTD, Disgenet	Cytokine-cytokine receptor interaction PI3K-Akt signaling pathway JAK-STAT signaling pathway +6 more
		CSRNP1	Unknown	16243910	CTD, Disgenet	—
		CSRP3	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		CTF1	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway IL-6-type cytokine receptor ligand interactions
		CTNNA3	Unknown	—	Disgenet	Hippo signaling pathway Adherens junction Leukocyte transendothelial migration +5 more
		CTNNB1	Unknown	29394407	CTD, Disgenet	Rap1 signaling pathway Wnt signaling pathway Hippo signaling pathway +51 more
		CYP11B2	Unknown	—	Disgenet	Steroid hormone biosynthesis Metabolic pathways Aldosterone synthesis and secretion +4 more
		DES	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		DGKD	Unknown	—	Disgenet	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
		DSP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 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, 1G	C1858763	DSP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
CARDIOMYOPATHY, DILATED, 1H	C1858591	ADRB3	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +9 more
CARDIOMYOPATHY, DILATED, 1H	C1858591	CYP11B2	Unknown	—	Disgenet	Steroid hormone biosynthesis Metabolic pathways Aldosterone synthesis and secretion +4 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, 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, 1M	607482 C1843808 MESH:C564390	CSRP3	Unknown	—	CTD, Disgenet, HPO	Cytoskeleton in muscle cells
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, 1P	C1835928	CEP85L	Unknown	—	Disgenet	—
CARDIOMYOPATHY, DILATED, 1QQ	621251	C10ORF71	Unknown	—	ClinVar	—
CARDIOMYOPATHY, DILATED, 1R	613424 C3150681	ACTC1	Unknown	—	Disgenet, HPO	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
CARDIOMYOPATHY, DILATED, 1S	C1834481	DSP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 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
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
		C10ORF71	Unknown	—	GenCC	—
		CACNB4	Unknown	29495422	GWAS catalog	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		CDH2	Unknown	15662031 28280076 34088908 35732739 36111109 36961336 39837836	ClinGen, GWAS catalog	Cell adhesion molecules Arrhythmogenic right ventricular cardiomyopathy Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +3 more
		CTF1	Unknown	11058912 12234945 21771897 22733458 24366078 24503780 34071085 34447655 7862649 8833032	ClinGen, GWAS catalog	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway IL-6-type cytokine receptor ligand interactions
		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
		DSP	Unknown	12366696 24108106 28934278 31983221 32005173	ClinVar	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
FAMILIAL DILATED CARDIOMYOPATHY	C0340427	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
		DSP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	154 MONDO:0015470	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
		C10ORF71	Unknown	38950288	Orphanet	—
		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
		DSP	Unknown	30993396	ClinGen, Orphanet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
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
		C10ORF71	Unknown	—	Disgenet	—
		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
		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
IDIOPATHIC DILATED CARDIOMYOPATHY	EFO_0009094	BAG3	Unknown	21459883	GWAS catalog	Regulation of HSF1-mediated heat shock response
IDIOPATHIC DILATED CARDIOMYOPATHY	EFO_0009094	CACNB4	Unknown	29495422	GWAS catalog	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
PRIMARY DILATED CARDIOMYOPATHY		ABCC9	Unknown	33947203	ClinVar	ABC transporters ATP sensitive Potassium channels ABC-family proteins mediated transport +2 more
PRIMARY DILATED CARDIOMYOPATHY		ANKRD1	Unknown	33947203	ClinVar, ClinGen	Cytoskeleton in muscle cells PPARA activates gene expression

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Dilated cardiomyopathy

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