Dilated cardiomyopathy

Summary

Dilated cardiomyopathy (MONDO:0005021) is a disease caused by variants in FLNC, PPP1R13L, RBM20, and 5 other genes, with 75 cohort genes (66 GWAS associations across 12 studies) and 158 clinical trials. The dominant Reactome pathway is Striated Muscle Contraction (15 cohort genes). Top therapeutic interventions include perindopril, metoprolol, and benazepril.

At a glance

• Causal genes: FLNC (GenCC Definitive), PPP1R13L (GenCC Definitive), RBM20 (GenCC Definitive), ACTC1 (GenCC Strong) (+4 more)
• Cohort genes: 75
• GWAS associations: 66
• ClinVar variants: 4,219
• Clinical trials: 158

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	dilated cardiomyopathy
Mondo ID	MONDO:0005021
EFO	EFO:0000407
MeSH	D002311
Orphanet	217604
DOID	DOID:12930
ICD-10-CM	I42.0
ICD-11	1916294688
NCIT	C84673
SNOMED CT	195021004
UMLS	C0007193
MedGen	2880
GARD	0000221
MedDRA	10056370
Is cancer (heuristic)	no

Also known as: dilated cardiomyopathy · familial dilated cardiomyopathy · idiopathic dilation cardiomyopathy

Data availability: 4,219 ClinVar variants · 22 ClinGen variant curations · 66 GWAS associations (12 studies) · 36 GenCC gene-disease records · 1 HPO phenotype · 355 cell lines.

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › cardiomyopathy › intrinsic cardiomyopathy › dilated cardiomyopathy

Related subtypes (5): myocarditis, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction

Subtypes (3): viral dilated cardiomyopathy, familial dilated cardiomyopathy, non-familial dilated cardiomyopathy

Genetics & variants

GWAS landscape

66 GWAS associations across 12 studies. Top hits map to 29 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs2234962	7e-38	BAG3	T	1.21
rs72842207	3e-25	BAG3	T	0.19
rs72840788	4e-25	BAG3	A	0.19
rs10927875	8e-25	ZBTB17	C	1.14
rs3176326	3e-19	CDKN1A	A	0.15
rs17226476	1e-17	LSM3 - LINC01267	A	0.13
rs1763605	2e-16	SRARP - HSPB7	G	0.12
rs17165191	2e-14	CCDC136	C	0.14
rs4713999	7e-14	RNU1-88P - Y_RNA	G	1.11
rs2042995	1e-13	TTN-AS1, TTN	T	1.11
rs4731517	4e-13	CCDC136	A	0.14
rs62232870	5e-13	LSM3 - LINC01267	A	1.36
rs2291569	9e-12	FLNC	G	1.16
rs12541595	2e-11	LINC00964	G	1.1
rs7605146	2e-11	SPATS2L	A	0.09
rs1051168	3e-11	NMB	T	1.09
rs2186370	4e-11	SMARCB1	G	1.12
rs7284877	5e-10	SMARCB1	C	1.33
rs62222424	9e-10	MAP3K7CL	A	0.15
rs2182400	2e-09	SVIL-AS1	G	1.1
rs7461129	2e-09	LINC00964	T	0.09
rs16866400	2e-09	TTN-AS1, TTN	A	0.1
rs12988307	3e-09	TTN-AS1, TTN	C	0.1
rs2303510	4e-09	FHOD3	G	1.08
rs9892651	5e-09	PRKCA	C	1.08
rs13265989	5e-09	OR7E158P - OR7E161P	G	1.09
rs11660748	7e-09	NEDD4L	G	0.13
rs6807275	9e-09	LSM3 - LINC01267	G	1.08
rs5760054	1e-08	SMARCB1	T	0.1
rs72801474	2e-08	HSPA4 - RPL6P15	A	0.14

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90624428	Jurgens SJ	2024	9,365	946,368	Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience.
GCST90624429	Jurgens SJ	2024	9,365	946,368	Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience.
GCST011202	Tadros R	2021	5,521	397,323	Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
GCST011210	Tadros R	2021	5,521	397,323	Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
GCST012211	Garnier S	2021	2,651	4,329	Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.
GCST90018834	Sakaue S	2021	1,444	353,937	A cross-population atlas of genetic associations for 220 human phenotypes.
GCST90296097	Ning C	2023	1,303	5,281	Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy.
GCST001023	Villard E	2011	1,179	1,108	A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
GCST002093	Meder B	2013	909	2,120	A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy.
GCST90079998	Backman JD	2021	858	387,072	Exome sequencing and analysis of 454,787 UK Biobank participants.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	5
Tier 2: splice/UTR	1
Tier 3: regulatory	4
Tier 4: intronic/intergenic	39

MAF distribution

Bucket	Variants
common (>=0.05)	49
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	34
missense_variant	5
regulatory_region_variant	4
intergenic_variant	4
3_prime_UTR_variant	1
non_coding_transcript_exon_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs2234962	10	119670121	T>C,G	0.222	missense_variant	BAG3	7e-38	Tier 1: coding
rs72842207	10	119674163	C>T	0.188	intron_variant	BAG3	3e-25	Tier 4: intronic/intergenic
rs72840788	10	119656173	G>A,T	0.188	intron_variant	BAG3	4e-25	Tier 4: intronic/intergenic
rs10927875	1	15972817	C>T	0.327	intron_variant	ZBTB17	8e-25	Tier 4: intronic/intergenic
rs3176326	6	36679512	G>A	0.202	intron_variant	CDKN1A	3e-19	Tier 4: intronic/intergenic
rs17226476	3	14235482	G>A	0.204	regulatory_region_variant	LSM3 - LINC01267	1e-17	Tier 3: regulatory
rs1763605	1	16012430	T>A,C,G	0.315	intergenic_variant	SRARP - HSPB7	2e-16	Tier 4: intronic/intergenic
rs17165191	7	128810950	T>A,C,G	0.153	intron_variant	CCDC136	2e-14	Tier 4: intronic/intergenic
rs4713999	6	36665292	A>C,G,T	0.332	intron_variant	RNU1-88P - Y_RNA	7e-14	Tier 4: intronic/intergenic
rs2042995	2	178693639	T>C	0.224	missense_variant	TTN-AS1, TTN	1e-13	Tier 1: coding
rs4731517	7	128818595	C>A	0.138	intron_variant	CCDC136	4e-13	Tier 4: intronic/intergenic
rs62232870	3	14216209	G>A	0.23	regulatory_region_variant	LSM3 - LINC01267	5e-13	Tier 3: regulatory
rs2291569	7	128848680	G>A,C,T	0.084	missense_variant	FLNC	9e-12	Tier 1: coding
rs12541595	8	124845117	G>A,T	0.31	intron_variant	LINC00964	2e-11	Tier 4: intronic/intergenic
rs7605146	2	200319165	G>A,C,T	0.375	intron_variant	SPATS2L	2e-11	Tier 4: intronic/intergenic
rs1051168	15	84657289	G>A,C,T	0.259	missense_variant	NMB	3e-11	Tier 1: coding
rs2186370	22	23829118	A>G,T	0.191	intron_variant	SMARCB1	4e-11	Tier 4: intronic/intergenic
rs7284877	22	23812924	G>A,C,T	0.19	intron_variant	SMARCB1	5e-10	Tier 4: intronic/intergenic
rs62222424	21	29157810	G>A,T	0.086	intron_variant	MAP3K7CL	9e-10	Tier 4: intronic/intergenic
rs2182400	10	29418622	A>G	0.242	intron_variant	SVIL-AS1	2e-09	Tier 4: intronic/intergenic
rs7461129	8	124849132	C>A,T	0.297	intron_variant	LINC00964	2e-09	Tier 4: intronic/intergenic
rs16866400	2	178584184	G>A,C	0.208	intron_variant	TTN-AS1, TTN	2e-09	Tier 4: intronic/intergenic
rs12988307	2	178625751	T>A,C	0.216	intron_variant	TTN-AS1, TTN	3e-09	Tier 4: intronic/intergenic
rs2303510	18	36744128	G>A,C	0.321	missense_variant	FHOD3	4e-09	Tier 1: coding
rs9892651	17	66307675	C>G,T	0.416	intron_variant	PRKCA	5e-09	Tier 4: intronic/intergenic
rs13265989	8	11922131	A>G	0.293	intron_variant	OR7E158P - OR7E161P	5e-09	Tier 4: intronic/intergenic
rs11660748	18	58252666	A>G,T	0.104	intron_variant	NEDD4L	7e-09	Tier 4: intronic/intergenic
rs6807275	3	14232951	G>A	0.341	regulatory_region_variant	LSM3 - LINC01267	9e-09	Tier 3: regulatory
rs5760054	22	23819530	C>T	0.245	intron_variant	SMARCB1	1e-08	Tier 4: intronic/intergenic
rs72801474	5	133108436	G>A	0.083	regulatory_region_variant	HSPA4 - RPL6P15	2e-08	Tier 3: regulatory

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

326 uncertain significance, 157 likely benign, 44 conflicting classifications of pathogenicity, 18 pathogenic, 16 likely pathogenic, 15 benign/likely benign, 12 pathogenic/likely pathogenic, 12 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1175188	NM_001079843.3(CASZ1):c.2443_2459del (p.Val815fs)	CASZ1	Pathogenic	criteria provided, single submitter
143947	NM_004415.4(DSP):c.2131_2132del	DSP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1012342	NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter)	LAMP2	Pathogenic	criteria provided, single submitter
14481	NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)	LMNA	Pathogenic	criteria provided, multiple submitters, no conflicts
14483	NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)	LMNA	Pathogenic	criteria provided, multiple submitters, no conflicts
14484	NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)	LMNA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14500	NM_170707.4(LMNA):c.1824C>T (p.Gly608=)	LMNA	Pathogenic	criteria provided, multiple submitters, no conflicts
14504	NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)	LMNA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
155806	NM_170707.4(LMNA):c.1086del (p.Leu363fs)	LMNA	Pathogenic	criteria provided, single submitter
1027651	NM_001267550.2(TTN):c.68022del (p.Glu22675fs)	LOC126806423	Pathogenic	no assertion criteria provided
1454884	NM_001292034.3(TAB2):c.1354C>T (p.Arg452Ter)	LOC126859827	Pathogenic	criteria provided, multiple submitters, no conflicts
14477	NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)	LOC129931597	Pathogenic	criteria provided, single submitter
132925	NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	MYH7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14089	NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)	MYH7	Pathogenic	reviewed by expert panel
14108	NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro)	MYH7	Pathogenic	reviewed by expert panel
13636	NM_002667.5(PLN):c.25C>T (p.Arg9Cys)	PLN	Pathogenic	criteria provided, multiple submitters, no conflicts
13637	NM_002667.5(PLN):c.116T>G (p.Leu39Ter)	PLN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1012346	NM_181486.4(TBX5):c.652C>T (p.Gln218Ter)	TBX5	Pathogenic	criteria provided, single submitter
12414	NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)	TNNT2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
12415	NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)	TNNT2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
12456	NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)	TPM1	Pathogenic	criteria provided, multiple submitters, no conflicts
155718	NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)	TSFM	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1065188	NM_001267550.2(TTN):c.83497G>T (p.Gly27833Ter)	TTN	Pathogenic	criteria provided, single submitter
1065189	NM_001267550.2(TTN):c.69522T>G (p.Tyr23174Ter)	TTN	Pathogenic	criteria provided, single submitter
1065191	NM_001267550.2(TTN):c.13592C>G (p.Ser4531Ter)	TTN	Pathogenic	criteria provided, multiple submitters, no conflicts
1065192	NM_001267550.2(TTN):c.80514del (p.Val26839fs)	TTN	Pathogenic	criteria provided, single submitter
130666	NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)	TTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1061173	NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter)	TTN-AS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1065190	NM_001267550.2(TTN):c.53918del (p.Gly17973fs)	TTN-AS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1284567	NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter)	TTN-AS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 151 · Orphanet: 161 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 5

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

Gene	HGNC	Evidence routes
FLNC	FLNC	GWAS, GenCC, Orphanet
TTN	TTN	GWAS, Orphanet
ZBTB17	ZBTB17	GWAS
FHOD3	FHOD3	GWAS
BAG3	BAG3	GWAS, Orphanet

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
ACTC1	Definitive	Autosomal dominant	hypertrophic cardiomyopathy	12
FLNC	Definitive	Autosomal dominant	dilated cardiomyopathy	14
LMOD2	Definitive	Autosomal recessive	cardiomyopathy, dilated, 2G	4
MYBPC3	Definitive	Autosomal dominant	hypertrophic cardiomyopathy 4	13
MYL2	Definitive	Autosomal dominant	hypertrophic cardiomyopathy 10	5
PPP1R13L	Definitive	Autosomal recessive	arrhythmogenic cardiomyopathy with variable ectodermal abnormalities	3
RBM20	Definitive	Autosomal dominant	dilated cardiomyopathy	7
MYPN	Strong	Autosomal dominant	dilated cardiomyopathy	12
MYZAP	Strong	Autosomal recessive	cardiomyopathy, dilated, 2K	2
NOL6	Strong	Autosomal recessive	dilated cardiomyopathy
NRAP	Strong	Autosomal recessive	dilated cardiomyopathy
PRDM16	Strong	Autosomal dominant	dilated cardiomyopathy	6
RPL3L	Strong	Autosomal recessive	cardiomyopathy, dilated, 2D	6
GCOM1	Moderate	Autosomal recessive	dilated cardiomyopathy
MYLK3	Moderate	Autosomal recessive	dilated cardiomyopathy	3
NEBL	Moderate	Autosomal dominant	dilated cardiomyopathy	2
PLEKHM2	Moderate	Autosomal recessive	dilated cardiomyopathy	2
RHBDF1	Moderate	Autosomal recessive	dilated cardiomyopathy
SLC30A5	Moderate	Autosomal recessive	cardiomyopathy	2
TMPO	Supportive	Autosomal dominant	familial isolated dilated cardiomyopathy	4
TXNRD2	Supportive	Autosomal dominant	familial isolated dilated cardiomyopathy	5
BMP10	Limited	Autosomal dominant	dilated cardiomyopathy	4
C10orf71	Limited	Autosomal dominant	dilated cardiomyopathy
FBXO32	Limited	Autosomal recessive	dilated cardiomyopathy
GATA4	Limited	Autosomal dominant	dilated cardiomyopathy	15
GATA6	Limited	Autosomal dominant	dilated cardiomyopathy	16
ILK	Limited	Autosomal dominant	dilated cardiomyopathy
PHACTR2	Limited	Autosomal recessive	dilated cardiomyopathy
PPCDC	Limited	Autosomal recessive	dilated cardiomyopathy
SOD2	Limited	Autosomal recessive	cardiomyopathy	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FLNC	Orphanet:171445	Muscle filaminopathy
FLNC	Orphanet:63273	FLNC-related handgrip and calf weakness-distal myopathy
FLNC	Orphanet:75249	Familial isolated restrictive cardiomyopathy
TMPO	Orphanet:154	Familial isolated dilated cardiomyopathy
TTN	Orphanet:140922	Titin-related limb-girdle muscular dystrophy R10
TTN	Orphanet:154	Familial isolated dilated cardiomyopathy
TTN	Orphanet:169186	Autosomal recessive centronuclear myopathy
TTN	Orphanet:178464	Hereditary myopathy with early respiratory failure
TTN	Orphanet:289377	Early-onset myopathy with fatal cardiomyopathy
TTN	Orphanet:293888	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
TTN	Orphanet:293899	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
TTN	Orphanet:293910	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
TTN	Orphanet:324604	Classic multiminicore myopathy
TTN	Orphanet:334	Hereditary atrial fibrillation
TTN	Orphanet:466921	Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
TTN	Orphanet:609	Tibial muscular dystrophy
TTN	Orphanet:707983	Early-onset autosomal recessive TTN-related distal myopathy
PRDM16	Orphanet:154	Familial isolated dilated cardiomyopathy
PRDM16	Orphanet:1606	1p36 deletion syndrome
PRDM16	Orphanet:54260	Left ventricular noncompaction
ACTC1	Orphanet:154	Familial isolated dilated cardiomyopathy
ACTC1	Orphanet:54260	Left ventricular noncompaction
ACTC1	Orphanet:99103	Atrial septal defect, ostium secundum type
TXNRD2	Orphanet:154	Familial isolated dilated cardiomyopathy
TXNRD2	Orphanet:361	Familial glucocorticoid deficiency
MYPN	Orphanet:154	Familial isolated dilated cardiomyopathy
MYPN	Orphanet:171439	Childhood-onset nemaline myopathy
MYPN	Orphanet:171881	Cap myopathy
MYPN	Orphanet:75249	Familial isolated restrictive cardiomyopathy
C10orf71	Orphanet:154	Familial isolated dilated cardiomyopathy
RBM20	Orphanet:154	Familial isolated dilated cardiomyopathy
GATA4	Orphanet:251071	8p23.1 microdeletion syndrome
GATA4	Orphanet:251510	46,XY partial gonadal dysgenesis
GATA4	Orphanet:3303	Tetralogy of Fallot
GATA4	Orphanet:334	Hereditary atrial fibrillation
GATA4	Orphanet:576232	Partial atrioventricular septal defect with ventricular hypoplasia
GATA4	Orphanet:99067	Complete atrioventricular septal defect with ventricular hypoplasia
GATA4	Orphanet:99068	Complete atrioventricular septal defect-tetralogy of Fallot
GATA4	Orphanet:99103	Atrial septal defect, ostium secundum type
GATA6	Orphanet:2140	Congenital diaphragmatic hernia
GATA6	Orphanet:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
GATA6	Orphanet:3303	Tetralogy of Fallot
GATA6	Orphanet:334	Hereditary atrial fibrillation
GATA6	Orphanet:665044	Common arterial trunk with aortic dominance
GATA6	Orphanet:665058	Common arterial trunk with pulmonary dominance and interrupted aortic arch
GATA6	Orphanet:99067	Complete atrioventricular septal defect with ventricular hypoplasia
GATA6	Orphanet:99103	Atrial septal defect, ostium secundum type
MYBPC3	Orphanet:154	Familial isolated dilated cardiomyopathy
MYBPC3	Orphanet:54260	Left ventricular noncompaction
MYL2	Orphanet:2020	Congenital fiber-type disproportion myopathy

Cohort genes → proteins

75 cohort genes, 74 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	2
gwas_and_clinvar	4
multi_evidence	69

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
FLNC	HGNC:3756	ENSG00000128591	Q14315	Filamin-C	gwas,gencc,clinvar
TMPO	HGNC:11875	ENSG00000120802	P42166	Lamina-associated polypeptide 2, isoform alpha	gencc,clinvar
TTN	HGNC:12403	ENSG00000155657	Q8WZ42	Titin	gwas,clinvar
ZBTB17	HGNC:12936	ENSG00000116809	Q13105	Zinc finger and BTB domain-containing protein 17	gwas,clinvar
PRDM16	HGNC:14000	ENSG00000142611	Q9HAZ2	Histone-lysine N-methyltransferase PRDM16	gencc,clinvar
ACTC1	HGNC:143	ENSG00000159251	P68032	Actin, alpha cardiac muscle 1	gencc,clinvar
NEBL	HGNC:16932	ENSG00000078114	O76041	Nebulette	gencc,clinvar
TXNRD2	HGNC:18155	ENSG00000184470	Q9NNW7	Thioredoxin reductase 2, mitochondrial	gencc,clinvar
PPP1R13L	HGNC:18838	ENSG00000104881	Q8WUF5	RelA-associated inhibitor	gencc,clinvar
NOL6	HGNC:19910	ENSG00000165271	Q9H6R4	Nucleolar protein 6	gencc,clinvar
MYPN	HGNC:23246	ENSG00000138347	Q86TC9	Myopalladin	gencc,clinvar
FHOD3	HGNC:26178	ENSG00000134775	Q2V2M9	FH1/FH2 domain-containing protein 3	gwas,clinvar
GCOM1	HGNC:26424	ENSG00000137878		GCOM1, MYZAP-POLR2M combined locus	gencc,clinvar
C10orf71	HGNC:26973	ENSG00000177354	Q711Q0	Cardiac-enriched FHL2-interacting protein	gencc,clinvar
RBM20	HGNC:27424	ENSG00000203867	Q5T481	RNA-binding protein 20	gencc,clinvar
MYLK3	HGNC:29826	ENSG00000140795	Q32MK0	Myosin light chain kinase 3	gencc,clinvar
GATA4	HGNC:4173	ENSG00000136574	P43694	Transcription factor GATA-4	gencc,clinvar
GATA6	HGNC:4174	ENSG00000141448	Q92908	Transcription factor GATA-6	gencc,clinvar
MYZAP	HGNC:43444	ENSG00000263155	P0CAP1	Myocardial zonula adherens protein	gencc,clinvar
ILK	HGNC:6040	ENSG00000166333	Q13418	Scaffold protein ILK	gencc,clinvar
MYBPC3	HGNC:7551	ENSG00000134571	Q14896	Myosin-binding protein C, cardiac-type	gencc,clinvar
MYL2	HGNC:7583	ENSG00000111245	P10916	Myosin regulatory light chain 2, ventricular/cardiac muscle isoform	gencc,clinvar
NRAP	HGNC:7988	ENSG00000197893	Q86VF7	Nebulin-related-anchoring protein	gencc,clinvar
BAG3	HGNC:939	ENSG00000151929	O95817	BAG family molecular chaperone regulator 3	gwas,clinvar
RPL3L	HGNC:10351	ENSG00000140986	Q92901	Ribosomal protein uL3-like	gencc
SOD2	HGNC:11180	ENSG00000291237	P04179	Superoxide dismutase [Mn], mitochondrial	gencc
FBXO32	HGNC:16731	ENSG00000156804	Q969P5	F-box only protein 32	gencc
SLC30A5	HGNC:19089	ENSG00000145740	Q8TAD4	Proton-coupled zinc antiporter SLC30A5	gencc
RTKN2	HGNC:19364	ENSG00000182010	Q8IZC4	Rhotekin-2	gencc
LRRC10	HGNC:20264	ENSG00000198812	Q5BKY1	Leucine-rich repeat-containing protein 10	gencc
RHBDF1	HGNC:20561	ENSG00000007384	Q96CC6	Inactive rhomboid protein 1	gencc
BMP10	HGNC:20869	ENSG00000163217	O95393	Bone morphogenetic protein 10	gencc
PHACTR2	HGNC:20956	ENSG00000112419	O75167	Phosphatase and actin regulator 2	gencc
PPCDC	HGNC:28107	ENSG00000138621	Q96CD2	Phosphopantothenoylcysteine decarboxylase	gencc
PLEKHM2	HGNC:29131	ENSG00000116786	Q8IWE5	Pleckstrin homology domain-containing family M member 2	gencc
LMOD2	HGNC:6648	ENSG00000170807	Q6P5Q4	Leiomodin-2	gencc
RYR2	HGNC:10484	ENSG00000198626	Q92736	Ryanodine receptor 2	clinvar
SCN2B	HGNC:10589	ENSG00000149575	O60939	Sodium channel regulatory subunit beta-2	clinvar
SCN5A	HGNC:10593	ENSG00000183873	Q14524	Sodium channel protein type 5 subunit alpha	clinvar
SCO2	HGNC:10604	ENSG00000284194	O43819	Cytochrome c oxidase assembly factor SCO2	clinvar
SDHA	HGNC:10680	ENSG00000073578	P31040	Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial	clinvar
SGCB	HGNC:10806	ENSG00000163069	Q16585	Beta-sarcoglycan	clinvar
SGCD	HGNC:10807	ENSG00000170624	Q92629	Delta-sarcoglycan	clinvar
SGCG	HGNC:10809	ENSG00000102683	Q13326	Gamma-sarcoglycan	clinvar
BRAF	HGNC:1097	ENSG00000157764	P15056	Serine/threonine-protein kinase B-raf	clinvar
SMARCB1	HGNC:11103	ENSG00000099956	Q12824	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1	gwas
SNTA1	HGNC:11167	ENSG00000101400	Q13424	Alpha-1-syntrophin	clinvar
SOS1	HGNC:11187	ENSG00000115904	Q07889	Son of sevenless homolog 1	clinvar
SVIL	HGNC:11480	ENSG00000197321	O95425	Supervillin	gwas
TAF1A	HGNC:11532	ENSG00000143498	Q15573	TATA box-binding protein-associated factor RNA polymerase I subunit A	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FLNC	Filamin-C	Muscle-specific filamin, which plays a central role in sarcomere assembly and organization.
TMPO	Lamina-associated polypeptide 2, isoform alpha	May be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly.
TTN	Titin	Key component in the assembly and functioning of vertebrate striated muscles.
ZBTB17	Zinc finger and BTB domain-containing protein 17	Transcription factor that can function as an activator or repressor depending on its binding partners, and by targeting negative regulators of cell cycle progression.
PRDM16	Histone-lysine N-methyltransferase PRDM16	Transcription regulator that acts both as a histone methyltransferase or chromatin adapter, depending on the context.
ACTC1	Actin, alpha cardiac muscle 1	Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
NEBL	Nebulette	Binds to actin and plays an important role in the assembly of the Z-disk.
TXNRD2	Thioredoxin reductase 2, mitochondrial	Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis.
PPP1R13L	RelA-associated inhibitor	Regulator that plays a central role in regulation of apoptosis and transcription via its interaction with NF-kappa-B and p53/TP53 proteins.
NOL6	Nucleolar protein 6	Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit.
MYPN	Myopalladin	Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines.
FHOD3	FH1/FH2 domain-containing protein 3	Actin-organizing protein that may cause stress fiber formation together with cell elongation.
C10orf71	Cardiac-enriched FHL2-interacting protein	Is an activator of the calcineurin/NFAT signaling pathway in cardiomyocytes, and is involved in myocardium morphogenesis, and regulation of myocardium mass and cardiac contractile function.
RBM20	RNA-binding protein 20	RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes encoding key structural proteins involved in cardiac development, such as TTN (Titin), CACNA1C, CAMK2D or PDLIM5/ENH.
MYLK3	Myosin light chain kinase 3	Kinase that phosphorylates MYL2 in vitro.
GATA4	Transcription factor GATA-4	Transcriptional activator that binds to the consensus sequence 5’-AGATAG-3’ and plays a key role in cardiac development and function.
GATA6	Transcription factor GATA-6	Transcriptional activator.
MYZAP	Myocardial zonula adherens protein	Plays a role in cellular signaling via Rho-related GTP-binding proteins and subsequent activation of transcription factor SRF.
ILK	Scaffold protein ILK	Scaffold protein which mediates protein-protein interactions during a range of cellular events including focal adhesion assembly, cell adhesion and cell migration.
MYBPC3	Myosin-binding protein C, cardiac-type	Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands.
MYL2	Myosin regulatory light chain 2, ventricular/cardiac muscle isoform	Contractile protein that plays a role in heart development and function.
NRAP	Nebulin-related-anchoring protein	May be involved in anchoring the terminal actin filaments in the myofibril to the membrane and in transmitting tension from the myofibrils to the extracellular matrix.
BAG3	BAG family molecular chaperone regulator 3	Co-chaperone and adapter protein that connects different classes of molecular chaperones including heat shock proteins 70 (HSP70s), e.g.
RPL3L	Ribosomal protein uL3-like	Heart- and skeletal muscle-specific component of the ribosome, which regulates muscle function.
SOD2	Superoxide dismutase [Mn], mitochondrial	Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems.
FBXO32	F-box only protein 32	Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
SLC30A5	Proton-coupled zinc antiporter SLC30A5	Together with SLC30A6 forms a functional proton-coupled zinc ion antiporter mediating zinc entry into the lumen of organelles along the secretory pathway.
RTKN2	Rhotekin-2	May play an important role in lymphopoiesis.
LRRC10	Leucine-rich repeat-containing protein 10	May play important roles in cardiac development and/or cardiac function.
RHBDF1	Inactive rhomboid protein 1	Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation.
BMP10	Bone morphogenetic protein 10	Required for maintaining the proliferative activity of embryonic cardiomyocytes by preventing premature activation of the negative cell cycle regulator CDKN1C/p57KIP and maintaining the required expression levels of cardiogenic factors suc…
PPCDC	Phosphopantothenoylcysteine decarboxylase	Catalyzes the decarboxylation of the cysteine moiety of 4-phosphopantothenoylcysteine to form 4’-phosphopantotheine and this reaction forms part of the biosynthesis of coenzyme A.
PLEKHM2	Pleckstrin homology domain-containing family M member 2	Plays a role in lysosomes movement and localization at the cell periphery acting as an effector of ARL8B.
LMOD2	Leiomodin-2	Mediates nucleation of actin filaments and thereby promotes actin polymerization.
RYR2	Ryanodine receptor 2	Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering cardiac muscle contraction.
SCN2B	Sodium channel regulatory subunit beta-2	Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes.
SCN5A	Sodium channel protein type 5 subunit alpha	Pore-forming subunit of Nav1.5, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes.
SCO2	Cytochrome c oxidase assembly factor SCO2	Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2); together with SCO1, facilitates the incorporation of copper into the Cu(A) site of MT-CO2/COX2.
SDHA	Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial	Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).
SGCB	Beta-sarcoglycan	Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
SGCD	Delta-sarcoglycan	Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
SGCG	Gamma-sarcoglycan	Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
BRAF	Serine/threonine-protein kinase B-raf	Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus.
SMARCB1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1	Core component of the BAF (hSWI/SNF) complex.
SNTA1	Alpha-1-syntrophin	Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins.
SOS1	Son of sevenless homolog 1	Promotes the exchange of Ras-bound GDP by GTP.
SVIL	Supervillin	Forms a high-affinity link between the actin cytoskeleton and the membrane.
TAF1A	TATA box-binding protein-associated factor RNA polymerase I subunit A	Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription.
TAFAZZIN	Tafazzin	Acyltransferase required to remodel newly synthesized phospholipid cardiolipin (1’,3’-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL), a key component of the mitochondrial inner membrane, with tissue specific acyl chains necessary fo…
TBX20	T-box transcription factor TBX20	Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart.

Protein-family classification

Druggable: 17 · Difficult: 19 · Unknown: 39 · Druggable fraction: 0.23

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Ion channel	4	6.0×	0.037
Scaffold/PPI	10	2.3×	0.044
Kinase	5	1.9×	0.357
Antibody/Immunoglobulin	4	1.6×	0.511
Transcription factor	9	1.0×	0.904
Other/Unknown	39	0.9×	0.955
Protease	1	0.5×	0.955
Enzyme (other)	3	0.5×	0.955

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
FLNC	Antibody/Immunoglobulin	yes		Filamin/ABP280_rpt, Actinin_actin-bd_CS, CH_dom
TMPO	Other/Unknown	no		LEM_dom, LEM/LEM-like_dom_sf, LEM-like_dom
TTN	Kinase	yes	2.7.11.1	Prot_kinase_dom, Ig_sub2, Ig_sub
ZBTB17	Transcription factor	no		BTB/POZ_dom, SKP1/BTB/POZ_sf, Znf_C2H2_type
PRDM16	Transcription factor	no	2.1.1.367	SET_dom, Znf_C2H2_type, Znf_C2H2_sf
ACTC1	Other/Unknown	no		Actin, Actin_CS, Actin/actin-like_CS
NEBL	Scaffold/PPI	no		Nebulin_repeat, SH3_domain, Nebulette_SH3
TXNRD2	Enzyme (other)	yes	1.8.1.9	Pyr_nuc-diS_OxRdtase, Pyr_nucl-diS_OxRdtase_dimer, Thioredoxin/glutathione_Rdtase
PPP1R13L	Scaffold/PPI	no		SH3_domain, Ankyrin_rpt, iASPP
NOL6	Other/Unknown	no		NOL6/Upt22, Nrap_D1, Nrap_D2
MYPN	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, Ig-like_dom
FHOD3	Other/Unknown	no		ARM-like, DAD_dom, GBD/FH3_dom
GCOM1	Other/Unknown	no
C10orf71	Other/Unknown	no		DUF4585, CEFIP
RBM20	Transcription factor	no		RRM_dom, Matrin/U1-C_Znf_C2H2, Matrin/U1-like-C_Znf_C2H2
MYLK3	Kinase	yes		Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
GATA4	Transcription factor	no		Znf_GATA, GATA_N, Znf_NHR/GATA
GATA6	Transcription factor	no		Znf_GATA, GATA_N, Znf_NHR/GATA
MYZAP	Other/Unknown	no		Tuftelin_GRINL1A/MYZAP/CCD68
ILK	Kinase	yes	2.7.10.2	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Ankyrin_rpt
MYBPC3	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, FN3_dom
MYL2	Other/Unknown	no		EF_hand_dom, EF-hand-dom_pair, EF_Hand_1_Ca_BS
NRAP	Transcription factor	no		Nebulin_repeat, Znf_LIM, Nebulin-like
BAG3	Scaffold/PPI	no		WW_dom, BAG_domain, WW_dom_sf
RPL3L	Other/Unknown	no		Ribosomal_uL3, Transl_B-barrel_sf, Ribosomal_uL3_CS
SOD2	Enzyme (other)	yes	1.15.1.1	Mn/Fe_SOD, Mn/Fe_SOD_N, Mn/Fe_SOD_C
FBXO32	Other/Unknown	no		F-box-like_dom_sf, FBX25/32
SLC30A5	Other/Unknown	no		Cation_efflux, Cation_efflux_TMD_sf, Msc2-like
RTKN2	Scaffold/PPI	no		PH_domain, HR1_rho-bd, PH-like_dom_sf
LRRC10	Other/Unknown	no		Leu-rich_rpt, Leu-rich_rpt_typical-subtyp, LRR_dom_sf
RHBDF1	Protease	yes		iRhom1_2_N, Peptidase_S54_rhomboid_dom, Rhomboid-like_sf
BMP10	Other/Unknown	no		TGF-b_propeptide, TGF-b_C, TGF-beta-like
PHACTR2	Other/Unknown	no		RPEL_repeat
PPCDC	Other/Unknown	no		Flavoprotein, Flavin_trans-like
PLEKHM2	Scaffold/PPI	no		PH_domain, Run_dom, PH-like_dom_sf
LMOD2	Other/Unknown	no		WH2_dom, TMOD, LRR_dom_sf
RYR2	Ion channel	yes		RIH_dom, B30.2/SPRY, EF_hand_dom
SCN2B	Antibody/Immunoglobulin	yes		Myelin_P0-rel, Ig_sub, Ig-like_dom
SCN5A	Ion channel	yes		Na_channel_asu, Ion_trans_dom, Na_channel_a5su
SCO2	Other/Unknown	no		SCO1/SenC, Thioredoxin_domain, Synth_of_cyt-c-oxidase_Sco1/2
SDHA	Other/Unknown	no		FRD_SDH_FAD_BS, FAD-dep_OxRdtase_2_FAD-bd, Succ_DH_flav_su_fwd
SGCB	Other/Unknown	no		Sarcoglycan, Sgcb
SGCD	Other/Unknown	no		Sarcoglycan, Sarcoglycan_gamma/delta/zeta
SGCG	Other/Unknown	no		Sarcoglycan, Sarcoglycan_gamma/delta/zeta
BRAF	Kinase	yes	2.7.10.2	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, PKC_DAG/PE
SMARCB1	Other/Unknown	no		SNF5, Sfh1/SNF5, INI1_DNA-bd
SNTA1	Scaffold/PPI	no		PDZ, PH_domain, PH-like_dom_sf
SOS1	Scaffold/PPI	no		DH_dom, Ras-like_Gua-exchang_fac_N, PH_domain
SVIL	Other/Unknown	no		Villin_headpiece, Villin/Gelsolin, Gelsolin-like_dom
TAF1A	Other/Unknown	no		RNA_pol_I_TAF1A/TAFI48_chr, TAF1A, SL1/TIF-IB_Component

Expression context

Cohort genes with no expression data: 0.

63 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	1
broad (>20)	73
unknown	1

Top tissues across cohort

Tissue	Cohort genes
apex of heart	17
left ventricle myocardium	11
skeletal muscle tissue of rectus abdominis	11
hindlimb stylopod muscle	10
heart right ventricle	9
right atrium auricular region	9
myocardium	8
cardiac muscle of right atrium	7
gastrocnemius	6
gluteal muscle	6
skeletal muscle tissue of biceps brachii	6
lower esophagus mucosa	6
cardiac atrium	6
tendon of biceps brachii	5
heart left ventricle	5
tibialis anterior	4
ventricular zone	4
buccal mucosa cell	4
ganglionic eminence	3
sural nerve	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FLNC	255	ubiquitous	marker	gastrocnemius, hindlimb stylopod muscle, tibialis anterior
TMPO	287	ubiquitous	marker	ventricular zone, ganglionic eminence, embryo
TTN	223	broad	marker	biceps brachii, gluteal muscle, skeletal muscle tissue of biceps brachii
ZBTB17	255	ubiquitous	yes	lower esophagus mucosa, sural nerve, tendon of biceps brachii
PRDM16	202	broad	marker	sural nerve, pigmented layer of retina, ascending aorta
ACTC1	224	broad	marker	left ventricle myocardium, heart right ventricle, myocardium
NEBL	282	broad	marker	heart right ventricle, myocardium, cranial nerve II
TXNRD2	264	ubiquitous	marker	right lobe of liver, right adrenal gland cortex, apex of heart
PPP1R13L	223	ubiquitous	marker	lower esophagus mucosa, skin of abdomen, skin of leg
NOL6	278	ubiquitous	marker	tongue squamous epithelium, lower esophagus mucosa, apex of heart
MYPN	116	broad	marker	hindlimb stylopod muscle, gastrocnemius, vastus lateralis
FHOD3	244	ubiquitous	marker	apex of heart, left ventricle myocardium, ventricular zone
GCOM1	136	broad	marker	cerebellar vermis, heart left ventricle, lower esophagus mucosa
C10orf71	112	tissue_specific	yes	skeletal muscle tissue of rectus abdominis, hindlimb stylopod muscle, skeletal muscle tissue
RBM20	191	broad	marker	left ventricle myocardium, cardiac muscle of right atrium, myocardium
MYLK3	194	tissue_specific	marker	cardiac muscle of right atrium, myocardium, heart right ventricle
GATA4	85	broad	marker	right atrium auricular region, heart left ventricle, duodenum
GATA6	204	ubiquitous	marker	germinal epithelium of ovary, parietal pleura, jejunal mucosa
MYZAP	227	broad	marker	left ventricle myocardium, cardiac muscle of right atrium, myocardium
ILK	287	ubiquitous	marker	body of uterus, popliteal artery, tibial artery
MYBPC3	149	tissue_specific	marker	apex of heart, right atrium auricular region, cardiac atrium
MYL2	179	tissue_specific	marker	heart right ventricle, diaphragm, apex of heart
NRAP	157	tissue_specific	marker	skeletal muscle tissue of rectus abdominis, hindlimb stylopod muscle, gastrocnemius
BAG3	286	ubiquitous	marker	gastrocnemius, skeletal muscle tissue of rectus abdominis, body of tongue
RPL3L	156	tissue_specific	marker	skeletal muscle tissue of rectus abdominis, hindlimb stylopod muscle, vastus lateralis
SOD2		ubiquitous
FBXO32	257	ubiquitous	marker	cardiac muscle of right atrium, deltoid, tibialis anterior
SLC30A5	281	ubiquitous	marker	buccal mucosa cell, stromal cell of endometrium, tendon of biceps brachii
RTKN2	152	ubiquitous	marker	right lung, ventricular zone, primordial germ cell in gonad
LRRC10	13	tissue_specific	yes	apex of heart, heart left ventricle, right atrium auricular region

Protein interactions among cohort

Intra-cohort edges: 113.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
KDM6A	8,825
BRAF	7,394
SOD2	6,580
SDHA	6,141
TJP1	5,826
SMARCB1	5,083
GATA4	4,994
BAG3	4,957
RPL3L	4,559
VCL	4,495

Intra-cohort edges

A	B	Sources
ACTC1	MYBPC3	intact
ACTC1	PHACTR2	biogrid_interaction, intact
ACTC1	SMARCB1	intact
ACTN2	CACNA1C	biogrid_interaction
ACTN2	LDB3	biogrid_interaction, intact, string_interaction
ACTN2	MYPN	biogrid_interaction, string_interaction
ACTN2	NEBL	string_interaction
ACTN2	NRAP	intact
ACTN2	TCAP	string_interaction
ACTN2	TNNT2	string_interaction
ACTN2	TPM1	biogrid_interaction, string_interaction
ACTN2	TTN	string_interaction
ACTN2	VCL	string_interaction
ALPK3	MYBPC3	string_interaction
ALPK3	TNNT2	string_interaction
ANKRD1	MYPN	biogrid_interaction, string_interaction
ANKRD1	NEBL	string_interaction
ANKRD1	TCAP	string_interaction
ANKRD1	TTN	biogrid_interaction, string_interaction
BAG3	FLNC	string_interaction
BAG3	LDB3	string_interaction
BRAF	SOD2	intact
BRAF	SOS1	string_interaction
CACNA1C	CACNB2	intact, string_interaction
CACNA1C	CASQ2	string_interaction
CACNA1C	HCN4	string_interaction
CACNA1C	JPH2	string_interaction
CACNA1C	RYR2	biogrid_interaction, string_interaction
CACNB2	HCN4	string_interaction
CACNB2	SCN5A	string_interaction
CASQ2	JPH2	string_interaction
CASQ2	RYR2	string_interaction
CASQ2	SCN5A	string_interaction
FHOD3	RBM20	string_interaction
FHOD3	TTN	string_interaction
FLNC	LDB3	string_interaction
FLNC	MYBPC3	intact
FLNC	NEBL	string_interaction
FLNC	SGCD	biogrid_interaction, intact, string_interaction
FLNC	SGCG	biogrid_interaction, intact, string_interaction
FLNC	TCAP	string_interaction
FLNC	VCL	string_interaction
GATA4	NEBL	string_interaction
GATA4	TBX20	string_interaction
GATA4	TBX5	biogrid_interaction, string_interaction
GCOM1	MYZAP	biogrid_interaction
HCN4	SCN5A	string_interaction
ILK	SCO2	intact
JPH2	RYR2	string_interaction
JPH2	TCAP	string_interaction

Structural data

PDB: 50 · AlphaFold-only: 24 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
BRAF	P15056	131
SOS1	Q07889	91
TTN	Q8WZ42	64
TNNC1	P63316	61
SOD2	P04179	48
TNNI3	P19429	39
VCL	P18206	37
SCN2B	O60939	35
CACNA1C	Q13936	33
RYR2	Q92736	26
TNNT2	P45379	25
ZBTB17	Q13105	19
TJP1	Q07157	19
ILK	Q13418	17
MYBPC3	Q14896	17
SMARCB1	Q12824	17
ACTC1	P68032	16
SCN5A	Q14524	16
ACTN2	P35609	16
FLNC	Q14315	14
TMPO	P42166	14
TPM1	P09493	14
TGFB3	P10600	11
BMP10	O95393	8
HCN4	Q9Y3Q4	8
PPP1R13L	Q8WUF5	5
SDHA	P31040	5
KDM6A	O15550	5
ACTA1	P68133	5
PLEKHM2	Q8IWE5	4

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TAFAZZIN	Q16635	94.87
RPL3L	Q92901	94.79
LRRC10	Q5BKY1	86.54
TAF1A	Q15573	86.29
ANKRD1	Q15327	82.64
SGCD	Q92629	81.43
SGCG	Q13326	80.24
FBXO32	Q969P5	80.15
SNTA1	Q13424	80.00
SLC30A5	Q8TAD4	76.95
SGCB	Q16585	76.67
RTKN2	Q8IZC4	70.33
TBX20	Q9UMR3	67.87
FHOD3	Q2V2M9	64.62
MYLK3	Q32MK0	63.26
PHACTR2	O75167	61.66
BAG3	O95817	57.98
GATA6	Q92908	53.48
MYPN	Q86TC9	52.71
NRAP	Q86VF7	51.98
ALPK3	Q96L96	49.15
RBM20	Q5T481	48.52
C10orf71	Q711Q0	42.08
TXNRD2	Q9NNW7

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 644. Enrichment computed across 175 evidence-associated genes (126 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 126 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Striated Muscle Contraction	15	36.7×	9e-18	TTN, ACTC1, MYBPC3, MYL2, TCAP, TNNC1, TNNI3, TNNT2 (+7 more)
Muscle contraction	20	12.2×	4e-14	ACTC1, MYBPC3, MYL2, RYR2, SCN2B, SCN5A, TBX5, TCAP (+12 more)
Formation of the dystrophin-glycoprotein complex (DGC)	10	24.5×	1e-09	ACTC1, SGCB, SGCD, SGCG, SNTA1, ACTA1, DMD, DTNA (+2 more)
Non-integrin membrane-ECM interactions	11	13.5×	7e-08	ACTC1, SGCB, SGCD, SGCG, SNTA1, ACTA1, COL1A1, DMD (+3 more)
Cardiac conduction	12	10.4×	2e-07	RYR2, SCN2B, SCN5A, TBX5, CACNA1C, CACNB2, CASQ2, AKAP9 (+4 more)
Extracellular matrix organization	12	6.0×	8e-05	ACTC1, SGCB, SGCD, SGCG, SNTA1, TGFB3, ACTA1, BMP10 (+4 more)
Regulation of CDH1 Function	4	30.2×	6e-04	ACTC1, VCL, ACTA1, JUP
Cardiogenesis	5	16.8×	8e-04	GATA4, GATA6, TBX20, TBX5, NKX2-5
Depolymerization of the Nuclear Lamina	4	24.2×	0.001	TMPO, EMD, LMNA, PRKCA
Phase 2 - plateau phase	4	24.2×	0.001	CACNA1C, CACNB2, AKAP9, KCNE1
Phase 3 - rapid repolarisation	3	27.2×	0.008	AKAP9, KCNE1, KCNH2
Nuclear Envelope Breakdown	4	14.5×	0.008	TMPO, EMD, LMNA, PRKCA
Apoptotic cleavage of cell adhesion proteins	3	24.7×	0.010	TJP1, DSG2, DSP
Ion homeostasis	5	8.1×	0.017	RYR2, TNNI3, CASQ2, ABCC9, PLN
Phase 0 - rapid depolarisation	4	11.0×	0.019	SCN2B, SCN5A, CACNA1C, CACNB2
Elastic fibre formation	4	10.7×	0.020	TGFB3, BMP10, FBN1, FBN2
YAP1- and WWTR1 (TAZ)-stimulated gene expression	3	18.1×	0.021	GATA4, TBX5, NKX2-5
Molecules associated with elastic fibres	4	9.8×	0.025	TGFB3, BMP10, FBN1, FBN2
Physiological factors	3	16.0×	0.027	GATA4, TBX5, NKX2-5
Signaling by BRAF and RAF1 fusions	5	6.8×	0.027	BRAF, VCL, AKAP9, LMNA, RAF1
Initiation of Nuclear Envelope (NE) Reformation	3	14.3×	0.034	TMPO, EMD, LMNA
ECM proteoglycans	5	6.0×	0.044	TGFB3, COL1A1, COL6A3, LAMA2, LAMA4
Negative feedback regulation of MAPK pathway	2	30.2×	0.049	BRAF, RAF1
NOTCH3 Activation and Transmission of Signal to the Nucleus	3	11.3×	0.058	MIB1, PSEN1, PSEN2
Developmental Lineage of Pancreatic Ductal Cells	4	7.2×	0.058	GATA4, COL1A1, LAMA2, LAMA4
Noncanonical activation of NOTCH3	2	22.7×	0.063	PSEN1, PSEN2
SHOC2 M1731 mutant abolishes MRAS complex function	2	22.7×	0.063	BRAF, RAF1
Gain-of-function MRAS complexes activate RAF signaling	2	22.7×	0.063	BRAF, RAF1
NOTCH2 Activation and Transmission of Signal to the Nucleus	3	10.5×	0.063	MIB1, PSEN1, PSEN2
XBP1(S) activates chaperone genes	4	6.8×	0.063	ZBTB17, GSK3A, LMNA, ACADVL

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 159 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
cardiac muscle contraction	21	53.0×	5e-29	TTN, ACTC1, PPP1R13L, MYBPC3, MYL2, RYR2, SCN2B, SCN5A (+13 more)
sarcomere organization	19	45.8×	9e-25	FLNC, TTN, MYPN, FHOD3, MYLK3, MYBPC3, TCAP, TNNT2 (+11 more)
regulation of heart rate by cardiac conduction	18	42.4×	8e-23	SCN2B, SCN5A, CACNA1C, CACNB2, HCN4, TRPM4, CTNNA3, DSC2 (+10 more)
regulation of ventricular cardiac muscle cell action potential	9	79.5×	4e-14	RYR2, CACNA1C, TRPM4, CTNNA3, DSC2, DSG2, DSP, JUP (+1 more)
muscle filament sliding	9	59.6×	1e-12	TTN, TCAP, TNNC1, TNNI3, TNNT2, TPM1, MYH6, MYH7 (+1 more)
ventricular cardiac muscle tissue morphogenesis	10	44.2×	2e-12	MYBPC3, MYL2, TNNC1, TNNI3, TNNT2, TPM1, BMP10, MYH6 (+2 more)
ventricular cardiac muscle cell action potential	9	56.1×	2e-12	RYR2, SCN5A, SNTA1, GPD1L, ANK2, KCNE1, KCNH2, NEDD4L (+1 more)
muscle contraction	14	18.3×	5e-12	TTN, SNTA1, TBX20, ACTA1, HCN4, FKRP, CRYAB, DES (+6 more)
cardiac muscle cell development	10	39.2×	5e-12	TTN, SGCB, SGCD, TCAP, ACTN2, ALPK3, LRRC10, NKX2-5 (+2 more)
regulation of heart rate	10	29.4×	1e-10	RYR2, SCN5A, SNTA1, CASQ2, HCN4, GPD1L, DMD, ANK2 (+2 more)
bundle of His cell-Purkinje myocyte adhesion involved in cell communication	6	90.8×	6e-10	CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
cardiac myofibril assembly	7	57.1×	1e-09	TTN, ACTC1, FHOD3, MYLK3, MYL2, TCAP, CSRP3
muscle organ development	12	12.6×	2e-08	SGCB, SGCD, SGCG, COL6A3, CRYAB, CTF1, DMD, EMD (+4 more)
cardiac muscle tissue morphogenesis	6	53.0×	6e-08	TTN, ACTC1, TBX20, TCAP, ANKRD1, NKX2-5
adult heart development	6	45.4×	2e-07	TCAP, CHD7, BMP10, NKX2-5, MYH6, MYH7
regulation of the force of heart contraction	6	37.4×	6e-07	MYL2, CSRP3, GAA, MYH6, MYH7, PLN
heart development	14	6.9×	1e-06	MYL2, SOD2, TBX5, TGFB3, TNNI3, KDM6A, CACNA1C, LDB3 (+6 more)
cardiac muscle cell contraction	5	53.0×	1e-06	C10orf71, SGCD, TNNC1, ABCC9, KCNE1
striated muscle contraction	6	31.8×	1e-06	TTN, RYR2, CASQ2, DTNA, MYH6, MYH7
regulation of ventricular cardiac muscle cell membrane repolarization	6	31.8×	1e-06	SCN5A, SNTA1, AKAP9, ANK2, KCNE1, KCNH2
skeletal muscle contraction	7	22.5×	1e-06	TTN, TCAP, TNNC1, TNNI3, MYH14, MYH7, MYH8
atrioventricular canal development	5	48.2×	2e-06	GATA4, GATA6, TBX20, CHD7, PTPN11
membrane depolarization during AV node cell action potential	4	84.8×	2e-06	SCN5A, CACNA1C, CACNB2, TRPM4
heart contraction	6	28.9×	2e-06	ACTC1, GATA6, MYL2, SGCD, SGCG, TNNI3
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	6	25.4×	6e-06	RYR2, CACNA1C, CASQ2, DMD, ANK2, PLN
skeletal muscle thin filament assembly	4	70.7×	6e-06	TTN, ACTC1, TCAP, ACTA1
muscle cell cellular homeostasis	6	24.5×	7e-06	BAG3, CSRP3, DMD, GAA, LAMP2, PLN
regulation of cardiac muscle cell contraction	5	35.3×	1e-05	GATA4, MYBPC3, SCN5A, ANK2, PLN
heart morphogenesis	7	16.5×	1e-05	C10orf71, MYBPC3, FKRP, CHD7, NKX2-5, GAA, ABCC9
detection of muscle stretch	4	60.6×	1e-05	TTN, TCAP, CDH2, CSRP3

Therapeutics

Drugs indicated for this disease

0 approved, 5 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
ARRY-797	Phase 3 (in late-stage trials)
Candesartan	Phase 3 (in late-stage trials)
Perindopril	Phase 3 (in late-stage trials)
Resveratrol	Phase 3 (in late-stage trials)
Rosuvastatin	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Filgrastim, Honey, Ixmyelocel-T, Ranolazine, Simvastatin, Sodium Chloride.

Drug target analysis

Approved (phase 4): 11 · Phase ≥3: 12 · Phased (≥1): 14 · Undrugged: 61

Druggability breadth: 81 of 175 evidence-associated genes (46%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
MYLK3	FEDRATINIB
ILK	NILOTINIB
SCN5A	BEPRIDIL
SDHA	LINEZOLID
BRAF	VEMURAFENIB
SOS1	IDARUBICIN
TNNC1	FINGOLIMOD
KDM6A	DEFERIPRONE
CACNA1C	REMIFENTANIL
CACNB2	NIMODIPINE
HCN4	IVABRADINE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SCN5A	108	4
CACNA1C	85	4
BRAF	48	4
MYLK3	24	4
SOS1	5	4
ILK	4	4
TXNRD2	3	3
SCN2B	2	2
TNNC1	2	4
CACNB2	2	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
FEDRATINIB	4	BRAF, MYLK3, SCN5A
AXITINIB	4	MYLK3
SORAFENIB	4	BRAF, MYLK3
NINTEDANIB	4	MYLK3, SCN5A
SUNITINIB	4	CACNA1C, MYLK3, SCN5A
QUIZARTINIB	4	MYLK3
MIDOSTAURIN	4	MYLK3
NILOTINIB	4	BRAF, CACNA1C, ILK
ERLOTINIB	4	BRAF, ILK
BEPRIDIL	4	CACNA1C, SCN5A
CANDESARTAN CILEXETIL	4	SCN5A
TELMISARTAN	4	SCN5A
CARBAMAZEPINE	4	SCN5A
DIBUCAINE	4	CACNA1C, SCN5A
IMIPRAMINE	4	CACNA1C, SCN5A
DROPERIDOL	4	CACNA1C, SCN5A
PONATINIB	4	BRAF, SCN5A
DULOXETINE	4	CACNA1C, SCN5A
PALONOSETRON	4	SCN5A
VILANTEROL	4	SCN5A
MEXILETINE HYDROCHLORIDE	4	SCN5A
UNOPROSTONE ISOPROPYL	4	SCN5A
LURASIDONE	4	SCN5A
LETERMOVIR	4	SCN5A
SERTINDOLE	4	CACNA1C, SCN5A
QUINIDINE	4	CACNA1C, SCN5A
DARUNAVIR	4	SCN5A
DARIFENACIN	4	SCN5A
BENZONATATE	4	SCN5A
TOLTERODINE	4	CACNA1C, SCN5A

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 7.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
BRAF	1,442	Binding:1400, Functional:37, ADMET:5
SCN5A	594	Binding:380, Functional:98, ADMET:72, Toxicity:43, Unclassified:1
CACNA1C	575	Binding:319, Functional:211, Toxicity:26, ADMET:19
SOS1	421	Binding:409, Functional:12
MYLK3	95	Binding:95
TXNRD2	91	Binding:76, Functional:15
ILK	71	Binding:71
KDM6A	40	Binding:36, Functional:4
HCN4	30	Binding:20, ADMET:5, Functional:4, Toxicity:1
CACNB2	22	Binding:20, ADMET:1, Toxicity:1
RYR2	15	Binding:15
ALPK3	10	Binding:10
SCN2B	9	ADMET:4, Binding:3, Toxicity:2
BAG3	8	Binding:8
TNNC1	8	Binding:8
TMPO	7	Binding:7
SMARCB1	7	Binding:7
ACTC1	6	Binding:6
GATA4	5	Binding:5
ZBTB17	4	Binding:4
SDHA	3	Binding:3
TPM1	3	Binding:3
PRDM16	2	Binding:2
SOD2	2	Binding:2
TAF1A	2	Binding:2
TNNI3	2	Binding:2
TNNT2	2	Binding:2
VCL	2	Binding:2
TTN	1	Binding:1
SLC30A5	1	Binding:1
SCO2	1	Binding:1
TAFAZZIN	1	Binding:1
TBX5	1	Binding:1
TGFB3	1	Binding:1
TJP1	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
TTN	2.7.11.1	non-specific serine/threonine protein kinase
PRDM16	2.1.1.367, 2.1.1.370	[histone H3]-lysine9 N-methyltransferase, [histone H3]-lysine4 N-dimethyltransferase
TXNRD2	1.8.1.9	thioredoxin-disulfide reductase (NADPH)
ILK	2.7.10.2	non-specific protein-tyrosine kinase
SOD2	1.15.1.1	superoxide dismutase
BRAF	2.7.10.2, 2.7.11.1	non-specific protein-tyrosine kinase, non-specific serine/threonine protein kinase
KDM6A	1.14.11.68	[histone H3]-trimethyl-L-lysine27 demethylase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
SCN5A	594
BRAF	1,442
SOS1	421
CACNA1C	575

Pharmacogenomics

Cohort genes with a PharmGKB record: 75; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
FEDRATINIB	4	BRAF, MYLK3, SCN5A
AXITINIB	4	MYLK3
SORAFENIB	4	BRAF, MYLK3
NINTEDANIB	4	MYLK3, SCN5A
SUNITINIB	4	CACNA1C, MYLK3, SCN5A
QUIZARTINIB	4	MYLK3
MIDOSTAURIN	4	MYLK3
NILOTINIB	4	BRAF, CACNA1C, ILK
ERLOTINIB	4	BRAF, ILK
BEPRIDIL	4	CACNA1C, SCN5A
CANDESARTAN CILEXETIL	4	SCN5A
TELMISARTAN	4	SCN5A
CARBAMAZEPINE	4	SCN5A
DIBUCAINE	4	CACNA1C, SCN5A
IMIPRAMINE	4	CACNA1C, SCN5A
DROPERIDOL	4	CACNA1C, SCN5A
PONATINIB	4	BRAF, SCN5A
DULOXETINE	4	CACNA1C, SCN5A
PALONOSETRON	4	SCN5A
VILANTEROL	4	SCN5A
MEXILETINE HYDROCHLORIDE	4	SCN5A
UNOPROSTONE ISOPROPYL	4	SCN5A
LURASIDONE	4	SCN5A
LETERMOVIR	4	SCN5A
SERTINDOLE	4	CACNA1C, SCN5A
QUINIDINE	4	CACNA1C, SCN5A
DARUNAVIR	4	SCN5A
DARIFENACIN	4	SCN5A
BENZONATATE	4	SCN5A
TOLTERODINE	4	CACNA1C, SCN5A

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	11	MYLK3, ILK, SCN5A, SDHA, BRAF, SOS1, TNNC1, KDM6A, CACNA1C, CACNB2 (+1 more)
B	Phased (≥1) drug, not yet approved	3	TXNRD2, RYR2, SCN2B
C	Druggable family + PDB, no drug	5	FLNC, TTN, MYBPC3, SOD2, RHBDF1
D	Druggable family + AlphaFold only, no drug	2	MYPN, ALPK3
E	Difficult family or no structure, no drug	54	TMPO, ZBTB17, PRDM16, ACTC1, NEBL, PPP1R13L, NOL6, FHOD3, GCOM1, C10orf71 (+44 more)

Undrugged target profiles

61 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
SNTA1	0	SCN5A
JPH2	0	RYR2
CASQ2	0	RYR2, CACNA1C
FLNC	0	—
TMPO	7	—
TTN	1	—
ZBTB17	4	—
PRDM16	2	—
ACTC1	6	—
NEBL	0	—
PPP1R13L	0	—
NOL6	0	—
MYPN	0	—
FHOD3	0	—
GCOM1	0	—
C10orf71	0	—
RBM20	0	—
GATA4	5	—
GATA6	0	—
MYZAP	0	—
MYBPC3	0	—
MYL2	0	—
NRAP	0	—
BAG3	8	—
RPL3L	0	—
SOD2	2	—
FBXO32	0	—
SLC30A5	1	—
RTKN2	0	—
LRRC10	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 158.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	103
PHASE2	14
PHASE1	11
PHASE3	10
PHASE1/PHASE2	8
PHASE4	6
PHASE2/PHASE3	5
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06236022	PHASE4	RECRUITING	The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT00374465	PHASE4	UNKNOWN	Therapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903	PHASE4	COMPLETED	Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140	PHASE4	COMPLETED	A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149	PHASE4	COMPLETED	Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581	PHASE4	COMPLETED	Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06250257	PHASE3	RECRUITING	Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age
NCT00333827	PHASE3	COMPLETED	Cell Therapy In Dilated Cardiomyopathy
NCT00505154	PHASE3	COMPLETED	Effect of Rosuvastatin on Left Ventricular Remodeling
NCT00743639	PHASE2/PHASE3	COMPLETED	Autologous Transplantation of Bone Marrow Mononuclear Stem-Cells for Dilated Cardiomyopathy
NCT01223703	PHASE3	COMPLETED	PUFAs and Left Ventricular Function in Heart Failure
NCT01311791	PHASE2/PHASE3	COMPLETED	A Randomized, Controlled Study to Evaluate Algisyl-LVR™ as a Method of Left Ventricular Augmentation for Heart Failure
NCT01583114	PHASE3	TERMINATED	PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors
NCT01914081	PHASE3	UNKNOWN	Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside
NCT02248532	PHASE2/PHASE3	COMPLETED	Repetitive Intramyocardial CD34+ Cell Therapy in Dilated Cardiomyopathy (REMEDIUM)
NCT02652728	PHASE2/PHASE3	UNKNOWN	Orodispersible Minitablets of Enalapril in Children With Heart Failure Due to Dilated Cardiomyopathy
NCT02654678	PHASE2/PHASE3	UNKNOWN	Follow-up Safety Trial in Children With Chronic Heart Failure Therapy Receiving Orodispersible Minitablets of Enalapril
NCT02989181	PHASE3	UNKNOWN	Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea
NCT03439514	PHASE3	TERMINATED	A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05849766	PHASE3	COMPLETED	Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction
NCT03572660	PHASE2	ACTIVE_NOT_RECRUITING	Use of Bone Marrow Derived Stem Cell and G-CSF With Circulatory Assistance in the Treatment of DCM
NCT06632834	PHASE2	RECRUITING	Outcome-targeted Therapy: Principle and Outcome Evaluation: Clinical Study and Phenotype-genotype Correlation
NCT07347197	PHASE1/PHASE2	NOT_YET_RECRUITING	Endocardial Delivery for Myocardial Regeneration Using Allogeneic iPSC-derived Cardiomyocyte Spheroids for HF With Systolic Dysfunction (EMERALD Study)
NCT07426419	PHASE1/PHASE2	NOT_YET_RECRUITING	An AAV Gene Therapy Trial of AFTX-201 in Adults With BAG3-Associated Dilated Cardiomyopathy (DCM)
NCT00454818	PHASE1/PHASE2	COMPLETED	Efficacy and Safety Study of Genetically Targeted Enzyme Replacement Therapy for Advanced Heart Failure
NCT00615394	PHASE1/PHASE2	COMPLETED	Autologous Transplantation of Bone Marrow Mononuclear Stem-Cells by Mini-Thoracotomy
NCT00629018	PHASE2	COMPLETED	Safety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy
NCT00629096	PHASE2	COMPLETED	Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy
NCT00765518	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Cardiac Repair Cell [CRC] Treatment) in Patients With Heart Failure Due to Dilated Cardiomyopathy (IMPACT-DCM)
NCT00847964	PHASE2	COMPLETED	Safety and Feasibility of Algisyl-LVR™ as a Method of Left Ventricular Restoration in Patients With DCM Undergoing Open-heart Surgery
NCT01020968	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Catheter-based Cardiac Repair Cell [CRC]) Treatment in Patients With Heart Failure Due to Dilated Cardiomyopathy
NCT01219452	PHASE1/PHASE2	UNKNOWN	Intramuscular Injection of Mesenchymal Stem Cell for Treatment of Children With Idiopathic Dilated Cardiomyopathy
NCT01290822	PHASE1/PHASE2	TERMINATED	Optimized Biventricular Pacing Allograft Recipients
NCT01302171	PHASE2	COMPLETED	Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy
NCT01350310	PHASE2	COMPLETED	Safety and Efficacy Study of Intramyocardial Stem Cell Therapy in Patients With Dilated Cardiomyopathy
NCT01739777	PHASE1/PHASE2	COMPLETED	Randomized Clinical Trial of Intravenous Infusion Umbilical Cord Mesenchymal Stem Cells on Cardiopathy
NCT02133911	PHASE2	COMPLETED	A Pilot Trial of Ranolazine to Treat Patients With Dilated Cardiomyopathy
NCT03071653	PHASE2	SUSPENDED	Left Cardiac Sympathetic Denervation for Cardiomyopathy Feasibility Pilot Study
NCT03447990	PHASE1/PHASE2	COMPLETED	v4 Study Evaluating the Safety, Tolerability and Preliminary Pharmacokinetics and Pharmacodynamics of MYK-491

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PERINDOPRIL	4	3
METOPROLOL	4	2
BENAZEPRIL	4	1
CARVEDILOL	4	1
MANGAFODIPIR TRISODIUM	4	1
NESIRITIDE	4	1
RANOLAZINE	4	1
SIROLIMUS	4	1
VALSARTAN	4	1
VERAPAMIL	4	1
IXMYELOCEL-T	3	2
ARRY-797	3	1
RESVERATROL	3	1
UBIDECARENONE	3	1
CLENBUTEROL	2	1
DANICAMTIV	2	1
DEXVERAPAMIL	2	1
MITOQUINONE MESYLATE	2	1
CHEMBL115622	0	1
CHEMBL4071327	0	1
CHEMBL454299	0	1
(R)-Carvedilol	0	1