Cardiomyopathy

Summary

Cardiomyopathy (MONDO:0004994) is a disease (an umbrella term covering 12 Mondo subtypes) with 75 cohort genes (56 GWAS associations across 44 studies) and 324 clinical trials. The dominant Reactome pathway is Striated Muscle Contraction (14 cohort genes). Top therapeutic interventions include acoramidis, amiodarone, and bisoprolol.

At a glance

• Umbrella term: 12 Mondo subtypes
• Cohort genes: 75
• GWAS associations: 56
• ClinVar variants: 20,472
• Clinical trials: 324

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cardiomyopathy
Mondo ID	MONDO:0004994
EFO	EFO:0000318
MeSH	D009202
Orphanet	167848
DOID	DOID:0050700
ICD-10-CM	I42
ICD-11	282225286
NCIT	C34830
SNOMED CT	85898001
UMLS	C0878544
MedGen	209232
MedDRA	10007636
Anatomy (UBERON)	UBERON:0001133
Is cancer (heuristic)	no

Also known as: Cardiomyopathies · cardiomyopathy

Data availability: 20,472 ClinVar variants · 63 ClinGen variant curations · 56 GWAS associations (44 studies) · 7 GenCC gene-disease records · 49 cell lines.

Disease family

An umbrella term covering 12 Mondo subtypes.

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

Related subtypes (12): striated muscle rhabdoid tumor, septal myocardial infarction, tonsillar pillar cancer, atrophic muscular disease, myalgic encephalomeyelitis/chronic fatigue syndrome, conduction system disorder, myostatin-related muscle hypertrophy, caveolinopathy, distal arthrogryposis, skeletal muscle disorder, myomatous neoplasm, Kocher-debre-Semelaigne syndrome

Subtypes (12): Keshan disease, intrinsic cardiomyopathy, extrinsic cardiomyopathy, idiopathic cardiomyopathy, familial cardiomyopathy, non-compaction cardiomyopathy, Chagas cardiomyopathy, Uhl anomaly, Tako-tsubo cardiomyopathy, cardiomyopathy due to anthracyclines, doxorubicin induced cardiomyopathy, autoimmune cardiomyopathy

Genetics & variants

GWAS landscape

56 GWAS associations across 44 studies. Top hits map to 21 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs72842207	3e-28	BAG3	C	0.14
rs3176326	3e-28	CDKN1A	G	0.13
rs2234962	3e-26	BAG3	T	0.14
rs9442216	3e-23	CLCNKA	T	0.1
rs6660685	5e-23	CLCNKA, HSPB7	A	0.1
chr1:16331108	5e-20		T	0.1
rs12627426	6e-17	MAP3K7CL	T	0.1
rs566588031	1e-16	DUSP29	G	3.99
rs562807542	4e-16	C10orf55 - VCL	G	3.17
rs73467637	4e-16	DDB2	A	0.31
chr3:14298407	5e-16		A	0.09
rs7650482	2e-15	CAND2	A	0.08
rs3211916	5e-15	CD36	T	0.21
chr3:14298510	7e-15		G	0.09
chr21:30534685	2e-14		G	0.1
rs56281979	6e-14	LSM3 - LINC01267	C	0.09
rs35006907	2e-13	LINC00964	C	0.08
rs572766605	6e-13	GNA15	C	4.27
rs55904223	1e-12	LSM3 - LINC01267	T	0.09
rs541834542	2e-12	GALNT18	T	4.41
rs5760054	3e-12	SMARCB1	C	0.08
rs145527225	4e-12	LINC01755	G	4.16
rs139603931	5e-12	LRRC1	A	3.76
rs554190089	5e-12	MCM9	T	2.38
rs201020322	6e-12	MITA1 - RPL3P9	C	4.03
chr1:52013915	2e-11		T	0.23
rs3807309	2e-11	FLNC	G	0.09
rs550829245	2e-11	OPCML	C	2.89
rs188962628	3e-11	GRID2 - RNA5SP164	G	3.02
rs75224781	4e-11	IGSF9B	C	2.4

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475949	Verma A	2024	20,680	418,334	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475951	Verma A	2024	19,708	419,904	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475948	Verma A	2024	7,053	111,507	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480151	Verma A	2024	7,053	111,507	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475950	Verma A	2024	6,758	112,127	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480149	Verma A	2024	6,758	112,127	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473562	UK Biobank Whole-Genome Sequencing Consortium	2025	3,578	454,862	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90297606	Auwerx C	2024	1,978	179,146	Rare copy-number variants as modulators of common disease susceptibility.
GCST90297660	Auwerx C	2024	1,978	179,146	Rare copy-number variants as modulators of common disease susceptibility.
GCST90297709	Auwerx C	2024	1,978	179,146	Rare copy-number variants as modulators of common disease susceptibility.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	0
Tier 3: regulatory	2
Tier 4: intronic/intergenic	34

MAF distribution

Bucket	Variants
common (>=0.05)	19
low_freq (0.01-0.05)	1
rare (<0.01)	13
unknown	4

Functional consequences

Consequence	Count
intron_variant	20
unknown	8
intergenic_variant	6
regulatory_region_variant	2
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs72842207	10	119674163	C>T	0.21	intron_variant	BAG3	3e-28	Tier 4: intronic/intergenic
rs3176326	6	36679512	G>A	0.197	intron_variant	CDKN1A	3e-28	Tier 4: intronic/intergenic
rs2234962	10	119670121	T>C,G	0.211	missense_variant	BAG3	3e-26	Tier 1: coding
rs9442216	1	16026905	T>C,G	0.315	intron_variant	CLCNKA	3e-23	Tier 4: intronic/intergenic
rs6660685	1	16020493	A>G,T	0.321	intergenic_variant	CLCNKA, HSPB7	5e-23	Tier 4: intronic/intergenic
chr1:16331108				0.348			5e-20	Tier 4: intronic/intergenic
rs12627426	21	29147136	T>A,C,G	0.199	intron_variant	MAP3K7CL	6e-17	Tier 4: intronic/intergenic
rs566588031	10	75040354	G>A	0.001	intron_variant	DUSP29	1e-16	Tier 4: intronic/intergenic
rs562807542	10	73940559	G>A,C	0	regulatory_region_variant	C10orf55 - VCL	4e-16	Tier 3: regulatory
rs73467637	11	47226713	A>G	0.009	intron_variant	DDB2	4e-16	Tier 4: intronic/intergenic
chr3:14298407				0.218			5e-16	Tier 4: intronic/intergenic
rs7650482	3	12800305	A>G	0.361	intron_variant	CAND2	2e-15	Tier 4: intronic/intergenic
rs3211916	7	80665494	T>C	0.115	intron_variant	CD36	5e-15	Tier 4: intronic/intergenic
chr3:14298510				0.218			7e-15	Tier 4: intronic/intergenic
chr21:30534685				0.15			2e-14	Tier 4: intronic/intergenic
rs56281979	3	14232793	C>A,T	0.187	regulatory_region_variant	LSM3 - LINC01267	6e-14	Tier 3: regulatory
rs35006907	8	124847575	C>A	0.272	intron_variant	LINC00964	2e-13	Tier 4: intronic/intergenic
rs572766605	19	3159009	C>A	0.001	intron_variant	GNA15	6e-13	Tier 4: intronic/intergenic
rs55904223	3	14258304	T>A,C,G	0.169	intron_variant	LSM3 - LINC01267	1e-12	Tier 4: intronic/intergenic
rs541834542	11	11368539	T>C	0	intron_variant	GALNT18	2e-12	Tier 4: intronic/intergenic
rs5760054	22	23819530	C>T	0.285	intron_variant	SMARCB1	3e-12	Tier 4: intronic/intergenic
rs145527225	1	55951346	G>A	0.001	intergenic_variant	LINC01755	4e-12	Tier 4: intronic/intergenic
rs139603931	6	53828227	A>G	0.001	intron_variant	LRRC1	5e-12	Tier 4: intronic/intergenic
rs554190089	6	118840174	T>A,C	0.001	intron_variant	MCM9	5e-12	Tier 4: intronic/intergenic
rs201020322	8	78996979	C>T	0	intergenic_variant	MITA1 - RPL3P9	6e-12	Tier 4: intronic/intergenic
chr1:52013915				0.019			2e-11	Tier 4: intronic/intergenic
rs3807309	7	128832084	G>A	0.144	intron_variant	FLNC	2e-11	Tier 4: intronic/intergenic
rs550829245	11	132831430	C>T	0	intron_variant	OPCML	2e-11	Tier 4: intronic/intergenic
rs188962628	4	93819592	G>A	0.001	intergenic_variant	GRID2 - RNA5SP164	3e-11	Tier 4: intronic/intergenic
rs75224781	11	133952491	C>G	0.001	intron_variant	IGSF9B	4e-11	Tier 4: intronic/intergenic

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

240 uncertain significance, 231 likely benign, 104 conflicting classifications of pathogenicity, 12 benign/likely benign, 6 pathogenic, 4 pathogenic/likely pathogenic, 1 conflicting classifications of pathogenicity; other, 1 likely pathogenic, 1 benign/likely benign; other

ClinVar	Variant (HGVS)	Gene	Classification	Review
1071032	NM_004006.3(DMD):c.568C>T (p.Gln190Ter)	DMD	Pathogenic	criteria provided, single submitter
1071901	NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter)	DMD	Pathogenic	criteria provided, multiple submitters, no conflicts
1073643	NM_004006.3(DMD):c.10224dup (p.Pro3409fs)	DMD	Pathogenic	criteria provided, multiple submitters, no conflicts
11239	NM_004006.3(DMD):c.178C>T (p.Gln60Ter)	DMD	Pathogenic	criteria provided, multiple submitters, no conflicts
1072470	NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs)	DSP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
10730	NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	GLA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
10768	NM_000169.3(GLA):c.640-801G>A	GLA	Pathogenic	criteria provided, multiple submitters, no conflicts
1047883	GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000)	GPR82	Pathogenic	criteria provided, single submitter
1071112	NM_000257.4(MYH7):c.732+1G>T	MYH7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1067228	NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter)	TTN-AS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1068025	NM_001267550.2(TTN):c.73347del (p.Phe24449fs)	TTN	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1003362	NM_004006.3(DMD):c.10951G>A (p.Asp3651Asn)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1003542	NM_004006.3(DMD):c.5684A>T (p.Asp1895Val)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1003878	NM_004006.3(DMD):c.961-4del	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1009457	NM_004006.3(DMD):c.2776C>A (p.Gln926Lys)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1015517	NM_004006.3(DMD):c.7064A>G (p.Asn2355Ser)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1017962	NM_004006.3(DMD):c.1388G>T (p.Trp463Leu)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1018171	NM_004006.3(DMD):c.3677C>G (p.Ala1226Gly)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1023293	NM_004006.3(DMD):c.3326A>G (p.Asn1109Ser)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1024683	NM_004006.3(DMD):c.3175A>G (p.Thr1059Ala)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1024941	NM_004006.3(DMD):c.4294C>G (p.Gln1432Glu)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1027173	NM_004006.3(DMD):c.2346A>T (p.Arg782Ser)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1034457	NM_004006.3(DMD):c.969A>T (p.Glu323Asp)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1053809	NM_004006.3(DMD):c.5682T>G (p.Asp1894Glu)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1066984	NM_004006.3(DMD):c.10262+1G>T	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1108248	NM_004006.3(DMD):c.2432G>A (p.Arg811Gln)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1124266	NM_004006.3(DMD):c.2472C>G (p.Asn824Lys)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1134344	NM_004006.3(DMD):c.3777G>A (p.Lys1259=)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1139740	NM_004006.3(DMD):c.3696A>G (p.Ala1232=)	DMD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1117381	NM_024422.6(DSC2):c.776-13dup	DSC2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 22 · Orphanet: 162 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

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
TNNT2	Definitive	Autosomal dominant	hypertrophic cardiomyopathy 2	12
FHL2	Moderate	Autosomal dominant	cardiomyopathy	2
SLC30A5	Moderate	Autosomal recessive	cardiomyopathy	2
PTCD1	Limited	Autosomal recessive	cardiomyopathy
SLC2A6	Limited	Autosomal dominant	cardiomyopathy
SOD2	Limited	Autosomal recessive	cardiomyopathy	3
TRIB3	Limited	Autosomal dominant	cardiomyopathy

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TNNT2	Orphanet:154	Familial isolated dilated cardiomyopathy
TNNT2	Orphanet:54260	Left ventricular noncompaction
TNNT2	Orphanet:75249	Familial isolated restrictive cardiomyopathy
FHL2	Orphanet:154	Familial isolated dilated cardiomyopathy
RPL3L	Orphanet:154	Familial isolated dilated cardiomyopathy
RYR2	Orphanet:293888	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
RYR2	Orphanet:293899	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
RYR2	Orphanet:293910	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
RYR2	Orphanet:3286	Catecholaminergic polymorphic ventricular tachycardia
SCN10A	Orphanet:101016	Romano-Ward syndrome
SCN10A	Orphanet:130	Brugada syndrome
SCN10A	Orphanet:306577	Hereditary sodium channelopathy-related small fibers neuropathy
SCN10A	Orphanet:46348	Paroxysmal extreme pain disorder
SCN10A	Orphanet:88642	Congenital insensitivity to pain-anosmia-neuropathic arthropathy
SCN10A	Orphanet:90026	Primary erythromelalgia
SCN1B	Orphanet:130	Brugada syndrome
SCN1B	Orphanet:1934	Early infantile developmental and epileptic encephalopathy
SCN1B	Orphanet:33069	Dravet syndrome
SCN1B	Orphanet:334	Hereditary atrial fibrillation
SCN1B	Orphanet:36387	Genetic epilepsy with febrile seizure plus
SCN1B	Orphanet:871	Hereditary progressive cardiac conduction defect
SCN5A	Orphanet:101016	Romano-Ward syndrome
SCN5A	Orphanet:130	Brugada syndrome
SCN5A	Orphanet:1344	Isolated atrial standstill
SCN5A	Orphanet:154	Familial isolated dilated cardiomyopathy
SCN5A	Orphanet:166282	Hereditary sick sinus syndrome
SCN5A	Orphanet:228140	Idiopathic ventricular fibrillation
SCN5A	Orphanet:334	Hereditary atrial fibrillation
SCN5A	Orphanet:871	Hereditary progressive cardiac conduction defect
SGCA	Orphanet:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
SGCD	Orphanet:154	Familial isolated dilated cardiomyopathy
SGCD	Orphanet:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
DST	Orphanet:314381	Hereditary sensory and autonomic neuropathy type 6
DST	Orphanet:412181	Epidermolysis bullosa simplex due to BP230 deficiency
BRAF	Orphanet:1340	Cardiofaciocutaneous syndrome
BRAF	Orphanet:146	Differentiated thyroid carcinoma
BRAF	Orphanet:251615	Pilomyxoid astrocytoma
BRAF	Orphanet:389	Langerhans cell histiocytosis
BRAF	Orphanet:500	Noonan syndrome with multiple lentigines
BRAF	Orphanet:54595	Craniopharyngioma
BRAF	Orphanet:58017	Classic hairy cell leukemia
BRAF	Orphanet:626	Large/giant congenital melanocytic nevus
BRAF	Orphanet:648	Noonan syndrome
BRAF	Orphanet:840	Syringocystadenoma papilliferum
BRAF	Orphanet:96253	Cushing disease
SLC4A3	Orphanet:51083	Congenital short QT syndrome
SOS1	Orphanet:2024	Hereditary gingival fibromatosis
SOS1	Orphanet:648	Noonan syndrome
TAFAZZIN	Orphanet:111	Barth syndrome
TAFAZZIN	Orphanet:154	Familial isolated dilated cardiomyopathy

Cohort genes → proteins

75 cohort genes, 75 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	75

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TNNT2	HGNC:11949	ENSG00000118194	P45379	Troponin T, cardiac muscle	gencc,clinvar
FHL2	HGNC:3703	ENSG00000115641	Q14192	Four and a half LIM domains protein 2	gencc,clinvar
SLC2A6	HGNC:11011	ENSG00000160326	Q9UGQ3	Solute carrier family 2, facilitated glucose transporter member 6	gencc
SOD2	HGNC:11180	ENSG00000291237	P04179	Superoxide dismutase [Mn], mitochondrial	gencc
TRIB3	HGNC:16228	ENSG00000101255	Q96RU7	Tribbles homolog 3	gencc
SLC30A5	HGNC:19089	ENSG00000145740	Q8TAD4	Proton-coupled zinc antiporter SLC30A5	gencc
PTCD1	HGNC:22198	ENSG00000106246	O75127	Pentatricopeptide repeat-containing protein 1, mitochondrial	gencc
RPL3L	HGNC:10351	ENSG00000140986	Q92901	Ribosomal protein uL3-like	clinvar
RYR2	HGNC:10484	ENSG00000198626	Q92736	Ryanodine receptor 2	clinvar
SCN10A	HGNC:10582	ENSG00000185313	Q9Y5Y9	Sodium channel protein type 10 subunit alpha	clinvar
SCN1B	HGNC:10586	ENSG00000105711	Q07699	Sodium channel regulatory subunit beta-1	clinvar
SCN5A	HGNC:10593	ENSG00000183873	Q14524	Sodium channel protein type 5 subunit alpha	clinvar
SGCA	HGNC:10805	ENSG00000108823	Q16586	Alpha-sarcoglycan	clinvar
SGCD	HGNC:10807	ENSG00000170624	Q92629	Delta-sarcoglycan	clinvar
DST	HGNC:1090	ENSG00000151914	Q03001	Dystonin	clinvar
BRAF	HGNC:1097	ENSG00000157764	P15056	Serine/threonine-protein kinase B-raf	clinvar
SLC4A3	HGNC:11029	ENSG00000114923	P48751	Anion exchange protein 3	clinvar
SOS1	HGNC:11187	ENSG00000115904	Q07889	Son of sevenless homolog 1	clinvar
TAF10	HGNC:11543	ENSG00000166337	Q12962	Transcription initiation factor TFIID subunit 10	clinvar
TAFAZZIN	HGNC:11577	ENSG00000102125	Q16635	Tafazzin	clinvar
TCAP	HGNC:11610	ENSG00000173991	O15273	Telethonin	clinvar
TGFB3	HGNC:11769	ENSG00000119699	P10600	Transforming growth factor beta-3 proprotein	clinvar
TMPO	HGNC:11875	ENSG00000120802	P42166	Lamina-associated polypeptide 2, isoform alpha	clinvar
TNNC1	HGNC:11943	ENSG00000114854	P63316	Troponin C, slow skeletal and cardiac muscles	clinvar
TNNI3	HGNC:11947	ENSG00000129991	P19429	Troponin I, cardiac muscle	clinvar
TPM1	HGNC:12010	ENSG00000140416	P09493	Tropomyosin alpha-1 chain	clinvar
TTN	HGNC:12403	ENSG00000155657	Q8WZ42	Titin	clinvar
TTR	HGNC:12405	ENSG00000118271	P02766	Transthyretin	clinvar
UMPS	HGNC:12563	ENSG00000114491	P11172	Uridine 5’-monophosphate synthase	clinvar
UQCRFS1	HGNC:12587	ENSG00000169021	P47985	Cytochrome b-c1 complex subunit Rieske, mitochondrial	clinvar
VCL	HGNC:12665	ENSG00000035403	P18206	Vinculin	clinvar
MYOZ2	HGNC:1330	ENSG00000172399	Q9NPC6	Myozenin-2	clinvar
DCHS1	HGNC:13681	ENSG00000166341	Q96JQ0	Protocadherin-16	clinvar
CACNA1C	HGNC:1390	ENSG00000151067	Q13936	Voltage-dependent L-type calcium channel subunit alpha-1C	clinvar
CACNB2	HGNC:1402	ENSG00000165995	Q08289	Voltage-dependent L-type calcium channel subunit beta-2	clinvar
JPH2	HGNC:14202	ENSG00000149596	Q9BR39	Junctophilin-2	clinvar
ACTC1	HGNC:143	ENSG00000159251	P68032	Actin, alpha cardiac muscle 1	clinvar
CASQ2	HGNC:1513	ENSG00000118729	O14958	Calsequestrin-2	clinvar
CAV3	HGNC:1529	ENSG00000182533	P56539	Caveolin-3	clinvar
LDB3	HGNC:15710	ENSG00000122367	O75112	LIM domain-binding protein 3	clinvar
OBSCN	HGNC:15719	ENSG00000154358	Q5VST9	Obscurin	clinvar
ANKRD1	HGNC:15819	ENSG00000148677	Q15327	Ankyrin repeat domain-containing protein 1	clinvar
MYLK2	HGNC:16243	ENSG00000101306	Q9H1R3	Myosin light chain kinase 2, skeletal/cardiac muscle	clinvar
ACTN2	HGNC:164	ENSG00000077522	P35609	Alpha-actinin-2	clinvar
HCN4	HGNC:16882	ENSG00000138622	Q9Y3Q4	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4	clinvar
NEBL	HGNC:16932	ENSG00000078114	O76041	Nebulette	clinvar
CLASP1	HGNC:17088	ENSG00000074054	Q7Z460	CLIP-associating protein 1	clinvar
SYNE1	HGNC:17089	ENSG00000131018	Q8NF91	Nesprin-1	clinvar
CDK13	HGNC:1733	ENSG00000065883	Q14004	Cyclin-dependent kinase 13	clinvar
ALPK3	HGNC:17574	ENSG00000136383	Q96L96	Alpha-protein kinase 3	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TNNT2	Troponin T, cardiac muscle	Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
FHL2	Four and a half LIM domains protein 2	May function as a molecular transmitter linking various signaling pathways to transcriptional regulation.
SLC2A6	Solute carrier family 2, facilitated glucose transporter member 6	Probable sugar transporter that acts as a regulator of glycolysis in macrophages.
SOD2	Superoxide dismutase [Mn], mitochondrial	Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems.
TRIB3	Tribbles homolog 3	Inactive protein kinase which acts as a regulator of the integrated stress response (ISR), a process for adaptation to various stress.
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.
PTCD1	Pentatricopeptide repeat-containing protein 1, mitochondrial	Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity.
RPL3L	Ribosomal protein uL3-like	Heart- and skeletal muscle-specific component of the ribosome, which regulates muscle function.
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.
SCN10A	Sodium channel protein type 10 subunit alpha	Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes.
SCN1B	Sodium channel regulatory subunit beta-1	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.
SGCA	Alpha-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.
DST	Dystonin	Cytoskeletal linker protein.
BRAF	Serine/threonine-protein kinase B-raf	Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus.
SLC4A3	Anion exchange protein 3	Sodium-independent anion exchanger which mediates the electroneutral exchange of chloride for bicarbonate ions across the cell membrane.
SOS1	Son of sevenless homolog 1	Promotes the exchange of Ras-bound GDP by GTP.
TAF10	Transcription initiation factor TFIID subunit 10	The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-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…
TCAP	Telethonin	Muscle assembly regulating factor.
TGFB3	Transforming growth factor beta-3 proprotein	Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively.
TMPO	Lamina-associated polypeptide 2, isoform alpha	May be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly.
TNNC1	Troponin C, slow skeletal and cardiac muscles	Troponin is the central regulatory protein of striated muscle contraction.
TNNI3	Troponin I, cardiac muscle	Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
TPM1	Tropomyosin alpha-1 chain	Binds to actin filaments in muscle and non-muscle cells.
TTN	Titin	Key component in the assembly and functioning of vertebrate striated muscles.
TTR	Transthyretin	Thyroid hormone-binding protein.
UMPS	Uridine 5’-monophosphate synthase	Bifunctional enzyme catalyzing the last two steps of de novo pyrimidine biosynthesis, orotate phosphoribosyltransferase (OPRT), which converts orotate to orotidine-5’-monophosphate (OMP), and orotidine-5’-monophosphate decarboxylase (ODC),…
UQCRFS1	Cytochrome b-c1 complex subunit Rieske, mitochondrial	Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation.
VCL	Vinculin	Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion.
MYOZ2	Myozenin-2	Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere.
DCHS1	Protocadherin-16	Calcium-dependent cell-adhesion protein.
CACNA1C	Voltage-dependent L-type calcium channel subunit alpha-1C	Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents.
CACNB2	Voltage-dependent L-type calcium channel subunit beta-2	Beta subunit of voltage-dependent calcium channels which contributes to the function of the calcium channel by increasing peak calcium current.
JPH2	Junctophilin-2	Membrane-binding protein that provides a structural bridge between the plasma membrane and the sarcoplasmic reticulum and is required for normal excitation-contraction coupling in cardiomyocytes.
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.
CASQ2	Calsequestrin-2	Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle.
CAV3	Caveolin-3	May act as a scaffolding protein within caveolar membranes.
LDB3	LIM domain-binding protein 3	May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.
OBSCN	Obscurin	Structural component of striated muscles which plays a role in myofibrillogenesis.
ANKRD1	Ankyrin repeat domain-containing protein 1	May play an important role in endothelial cell activation.
MYLK2	Myosin light chain kinase 2, skeletal/cardiac muscle	Implicated in the level of global muscle contraction and cardiac function.
ACTN2	Alpha-actinin-2	F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures.
HCN4	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4	Hyperpolarization-activated ion channel that are permeable to Na(+) and K(+) ions with very slow activation and inactivation.
NEBL	Nebulette	Binds to actin and plays an important role in the assembly of the Z-disk.
CLASP1	CLIP-associating protein 1	Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules.
SYNE1	Nesprin-1	Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization.
CDK13	Cyclin-dependent kinase 13	Cyclin-dependent kinase which displays CTD kinase activity and is required for RNA splicing.
ALPK3	Alpha-protein kinase 3	Involved in cardiomyocyte differentiation.

Protein-family classification

Druggable: 24 · Difficult: 12 · Unknown: 39 · Druggable fraction: 0.32

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	6	8.9×	6e-04
Kinase	7	2.6×	0.092
Antibody/Immunoglobulin	4	1.6×	0.852
Scaffold/PPI	5	1.1×	0.960
Transporter	1	1.0×	0.960
Protease	2	1.0×	0.960
Other/Unknown	39	0.9×	0.960
Transcription factor	7	0.8×	0.960
Enzyme (other)	3	0.5×	0.960
GPCR	1	0.3×	0.960

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TNNT2	Other/Unknown	no		Troponin, TNNT, Troponin_sf
FHL2	Transcription factor	no		Znf_LIM, LIM_FHL1/2/3/5_N
SLC2A6	Transporter	yes		Sugar/inositol_transpt, MFS_sugar_transport-like, Sugar_transporter_CS
SOD2	Enzyme (other)	yes	1.15.1.1	Mn/Fe_SOD, Mn/Fe_SOD_N, Mn/Fe_SOD_C
TRIB3	Kinase	yes		Prot_kinase_dom, Kinase-like_dom_sf, Tribbles/Ser_Thr_kinase_40
SLC30A5	Other/Unknown	no		Cation_efflux, Cation_efflux_TMD_sf, Msc2-like
PTCD1	Other/Unknown	no		PPR_rpt, TPR-like_helical_dom_sf, PROP1-like_PPR_dom
RPL3L	Other/Unknown	no		Ribosomal_uL3, Transl_B-barrel_sf, Ribosomal_uL3_CS
RYR2	Ion channel	yes		RIH_dom, B30.2/SPRY, EF_hand_dom
SCN10A	Ion channel	yes		Na_channel_asu, Ion_trans_dom, Na_trans_assoc_dom
SCN1B	Antibody/Immunoglobulin	yes		Ig_V-set, Ig-like_fold, Na_channel_b1/b3
SCN5A	Ion channel	yes		Na_channel_asu, Ion_trans_dom, Na_channel_a5su
SGCA	Other/Unknown	no		Cadg, Sarcoglycan_alpha/epsilon, Cadherin-like_sf
SGCD	Other/Unknown	no		Sarcoglycan, Sarcoglycan_gamma/delta/zeta
DST	Scaffold/PPI	no		Plectin_repeat, SH3_domain, Actinin_actin-bd_CS
BRAF	Kinase	yes	2.7.10.2	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, PKC_DAG/PE
SLC4A3	Other/Unknown	no		Anion_exchange, Anion_exchange_3, HCO3_transpt_euk
SOS1	Scaffold/PPI	no		DH_dom, Ras-like_Gua-exchang_fac_N, PH_domain
TAF10	Other/Unknown	no		TAF10
TAFAZZIN	Other/Unknown	no		Tafazzin, Plipid/glycerol_acylTrfase
TCAP	Other/Unknown	no		Telethonin, Titin-like_dom_sf
TGFB3	Other/Unknown	no		TGF-b_propeptide, TGF-b_C, TGF-beta-like
TMPO	Other/Unknown	no		LEM_dom, LEM/LEM-like_dom_sf, LEM-like_dom
TNNC1	Other/Unknown	no		EF_hand_dom, EF-hand-dom_pair, EF_Hand_1_Ca_BS
TNNI3	Other/Unknown	no		Troponin, Troponin-I_N, Troponin_sf
TPM1	Other/Unknown	no		Tropomyosin
TTN	Kinase	yes	2.7.11.1	Prot_kinase_dom, Ig_sub2, Ig_sub
TTR	Other/Unknown	no		Transthyretin/HIU_hydrolase, Transthyretin/HIU_hydrolase_d, Thyroxine_BS
UMPS	Enzyme (other)	yes	4.1.1.23	PRTase_dom, OMPdeCOase_dom, Or_phspho_trans_dom
UQCRFS1	Other/Unknown	no		Rieske_TM, Rieske_Fe-S_prot_C, Ubiquinol_cyt_c_Rdtase_Fe-S-su
VCL	Other/Unknown	no		Vinculin_CS, Vinculin/catenin, Vinculin
MYOZ2	Other/Unknown	no		MYOZ
DCHS1	Other/Unknown	no		Cadherin-like_dom, Cadherin-like_sf, Cadherin_CS
CACNA1C	Ion channel	yes		VDCCAlpha1, VDCC_L_a1su, VDCC_L_a1csu
CACNB2	Scaffold/PPI	no		VDCC_L_bsu, SH3_domain, VDCC_L_b2su
JPH2	Other/Unknown	no		MORN, Junctophilin
ACTC1	Other/Unknown	no		Actin, Actin_CS, Actin/actin-like_CS
CASQ2	Other/Unknown	no		Calsequestrin, Calsequestrin_CS, Thioredoxin-like_sf
CAV3	Other/Unknown	no		Caveolin, Caveolin_CS
LDB3	Transcription factor	no		PDZ, Znf_LIM, Zasp-like_motif
OBSCN	Kinase	yes		IQ_motif_EF-hand-BS, DH_dom, Prot_kinase_dom
ANKRD1	Scaffold/PPI	no		Ankyrin_rpt, Ankyrin_rpt-contain_sf
MYLK2	Kinase	yes	2.7.11.18	Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
ACTN2	Other/Unknown	no		Actinin_actin-bd_CS, CH_dom, Spectrin_repeat
HCN4	Ion channel	yes		cNMP-bd_dom, K_chnl_volt-dep_EAG/ELK/ERG, Ion_trans_dom
NEBL	Scaffold/PPI	no		Nebulin_repeat, SH3_domain, Nebulette_SH3
CLASP1	Other/Unknown	no		ARM-like, ARM-type_fold, HEAT_type_2
SYNE1	Other/Unknown	no		Actinin_actin-bd_CS, CH_dom, Spectrin_repeat
CDK13	Kinase	yes	2.7.11.22	Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
ALPK3	Kinase	yes		Ig_sub2, Ig_sub, a-kinase_dom

Expression context

Cohort genes with no expression data: 0.

67 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)	0
broad (>20)	74
unknown	1

Top tissues across cohort

Tissue	Cohort genes
apex of heart	18
left ventricle myocardium	15
hindlimb stylopod muscle	14
heart right ventricle	12
skeletal muscle tissue of rectus abdominis	9
myocardium	9
gastrocnemius	8
right atrium auricular region	6
buccal mucosa cell	6
calcaneal tendon	5
skeletal muscle tissue of biceps brachii	5
cardiac atrium	4
tendon of biceps brachii	4
gluteal muscle	4
cardiac ventricle	3
granulocyte	3
right lobe of liver	3
vastus lateralis	3
saphenous vein	3
ganglionic eminence	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TNNT2	154	broad	marker	apex of heart, right atrium auricular region, cardiac atrium
FHL2	272	ubiquitous	marker	left ventricle myocardium, heart right ventricle, cardiac ventricle
SLC2A6	133	ubiquitous	marker	granulocyte, monocyte, leukocyte
SOD2		ubiquitous
TRIB3	205	ubiquitous	marker	right lobe of liver, pancreatic ductal cell, primordial germ cell in gonad
SLC30A5	281	ubiquitous	marker	buccal mucosa cell, stromal cell of endometrium, tendon of biceps brachii
PTCD1	273	ubiquitous	marker	buccal mucosa cell, tendon of biceps brachii, parotid gland
RPL3L	156	tissue_specific	marker	skeletal muscle tissue of rectus abdominis, hindlimb stylopod muscle, vastus lateralis
RYR2	210	broad	marker	heart right ventricle, left ventricle myocardium, myocardium
SCN10A	21		marker	type B pancreatic cell, olfactory bulb, diaphragm
SCN1B	133	ubiquitous	marker	primary visual cortex, right hemisphere of cerebellum, cerebellum
SCN5A	161	broad	yes	apex of heart, heart left ventricle, cardiac ventricle
SGCA	190	broad	marker	hindlimb stylopod muscle, gastrocnemius, apex of heart
SGCD	247	broad	marker	left ventricle myocardium, skeletal muscle tissue of rectus abdominis, heart right ventricle
DST	305	ubiquitous	marker	corpus callosum, calcaneal tendon, medial globus pallidus
BRAF	265	ubiquitous	marker	buccal mucosa cell, colonic epithelium, calcaneal tendon
SLC4A3	203	ubiquitous	marker	apex of heart, right atrium auricular region, cardiac atrium
SOS1	289	ubiquitous	marker	colonic epithelium, jejunal mucosa, tendon of biceps brachii
TAF10	166	ubiquitous	marker	right testis, left testis, granulocyte
TAFAZZIN	238	ubiquitous	marker	apex of heart, granulocyte, lower esophagus mucosa
TCAP	213	tissue_specific	marker	apex of heart, hindlimb stylopod muscle, skeletal muscle tissue of rectus abdominis
TGFB3	244	broad	marker	saphenous vein, endocervix, gall bladder
TMPO	287	ubiquitous	marker	ventricular zone, ganglionic eminence, embryo
TNNC1	207	broad	marker	triceps brachii, gluteal muscle, heart right ventricle
TNNI3	169	broad	marker	apex of heart, left ventricle myocardium, right atrium auricular region
TPM1	305	ubiquitous	marker	left ventricle myocardium, heart right ventricle, myocardium
TTN	223	broad	marker	biceps brachii, gluteal muscle, skeletal muscle tissue of biceps brachii
TTR	185	broad	marker	choroid plexus epithelium, type B pancreatic cell, right lobe of liver
UMPS	279	ubiquitous	marker	adrenal tissue, ventricular zone, ganglionic eminence
UQCRFS1	134	ubiquitous	marker	gastrocnemius, heart left ventricle, mucosa of transverse colon

Protein interactions among cohort

Intra-cohort edges: 145.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
BRAF	7,394
SOD2	6,580
UMPS	4,760
RPL3L	4,559
TTR	4,528
VCL	4,495
TTN	4,237
UQCRFS1	4,001
TXNRD2	3,712
SOS1	3,625

Intra-cohort edges

A	B	Sources
ACTN2	CACNA1C	biogrid_interaction
ACTN2	CSRP3	intact, string_interaction
ACTN2	LDB3	biogrid_interaction, intact, string_interaction
ACTN2	MYOZ2	biogrid_interaction, intact, string_interaction
ACTN2	MYPN	biogrid_interaction, string_interaction
ACTN2	NEBL	string_interaction
ACTN2	NEXN	string_interaction
ACTN2	PDLIM3	biogrid_interaction, intact, string_interaction
ACTN2	TCAP	string_interaction
ACTN2	TNNT2	string_interaction
ACTN2	TPM1	biogrid_interaction, string_interaction
ACTN2	TTN	string_interaction
ACTN2	VCL	string_interaction
ALPK3	TNNT2	string_interaction
ANKRD1	CSRP3	string_interaction
ANKRD1	DST	biogrid_interaction, intact
ANKRD1	FHL2	string_interaction
ANKRD1	MYPN	biogrid_interaction, string_interaction
ANKRD1	NEBL	string_interaction
ANKRD1	TCAP	string_interaction
ANKRD1	TTN	biogrid_interaction, string_interaction
BRAF	SOD2	intact
BRAF	SOS1	string_interaction
CACNA1C	CACNB2	intact, string_interaction
CACNA1C	CASQ2	string_interaction
CACNA1C	CAV3	string_interaction
CACNA1C	FHL2	biogrid_interaction
CACNA1C	GPD1L	string_interaction
CACNA1C	HCN4	string_interaction
CACNA1C	JPH2	string_interaction
CACNA1C	RYR2	biogrid_interaction, string_interaction
CACNA1C	SCN3B	string_interaction
CACNB2	GPD1L	string_interaction
CACNB2	HCN4	string_interaction
CACNB2	SCN1B	string_interaction
CACNB2	SCN3B	string_interaction
CACNB2	SCN5A	string_interaction
CALR3	CASQ2	string_interaction
CALR3	CSRP3	string_interaction
CALR3	JPH2	string_interaction
CALR3	MYLK2	string_interaction
CALR3	MYOZ2	string_interaction
CALR3	MYPN	string_interaction
CALR3	RYR2	string_interaction
CALR3	TCAP	string_interaction
CASQ2	JPH2	string_interaction
CASQ2	RYR2	string_interaction
CASQ2	SCN5A	string_interaction
CAV3	DMD	string_interaction
CAV3	GPD1L	string_interaction

Structural data

PDB: 46 · AlphaFold-only: 29 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TTR	P02766	462
BRAF	P15056	131
SOS1	Q07889	91
UMPS	P11172	72
TTN	Q8WZ42	64
TNNC1	P63316	61
SOD2	P04179	48
TAF10	Q12962	48
SCN1B	Q07699	39
TNNI3	P19429	39
VCL	P18206	37
CACNA1C	Q13936	33
TRPM4	Q8TD43	29
RYR2	Q92736	26
TNNT2	P45379	25
OBSCN	Q5VST9	25
CRYAB	P02511	21
CHRM2	P08172	17
SCN5A	Q14524	16
ACTC1	P68032	16
ACTN2	P35609	16
TMPO	P42166	14
TPM1	P09493	14
TGFB3	P10600	11
SCN10A	Q9Y5Y9	8
HCN4	Q9Y3Q4	8
FKRP	Q9H9S5	8
DMD	P11532	6
UQCRFS1	P47985	5
FHL2	Q14192	4

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TAFAZZIN	Q16635	94.87
RPL3L	Q92901	94.79
TMEM43	Q9BTV4	89.92
CAV3	P56539	88.54
KLHL24	Q6TFL4	87.69
CTF1	Q16619	85.94
COX15	Q7KZN9	85.29
ANKRD1	Q15327	82.64
SLC2A6	Q9UGQ3	81.69
SGCD	Q92629	81.43
SGCA	Q16586	80.15
DES	P17661	77.73
TRIB3	Q96RU7	77.51
CALR3	Q96L12	77.43
SLC30A5	Q8TAD4	76.95
NEXN	Q0ZGT2	70.78
CORIN	Q9Y5Q5	70.20
PTCD1	O75127	68.41
PDLIM3	Q53GG5	66.98
C2orf49	Q9BVC5	66.31
MYOZ2	Q9NPC6	65.51
CEP85L	Q5SZL2	64.98
FHOD3	Q2V2M9	64.62
MYO18B	Q8IUG5	60.66
CASZ1	Q86V15	53.66
MYPN	Q86TC9	52.71
ALPK3	Q96L96	49.15
RBM20	Q5T481	48.52
TXNRD2	Q9NNW7

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 507. Enrichment computed across 137 evidence-associated genes (97 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 97 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	14	44.5×	6e-18	TNNT2, TCAP, TNNC1, TNNI3, TPM1, TTN, ACTC1, ACTN2 (+6 more)
Muscle contraction	21	16.7×	6e-18	RYR2, SCN10A, SCN1B, SCN5A, TCAP, CACNA1C, CACNB2, ACTC1 (+13 more)
Cardiac conduction	13	14.6×	7e-10	RYR2, SCN10A, SCN1B, SCN5A, CACNA1C, CACNB2, CASQ2, SCN3B (+5 more)
Phase 2 - plateau phase	6	47.1×	2e-07	CACNA1C, CACNB2, AKAP9, KCNE1, KCNE3, KCNQ1
Phase 0 - rapid depolarisation	6	21.4×	3e-05	SCN10A, SCN1B, SCN5A, CACNA1C, CACNB2, SCN3B
Formation of the dystrophin-glycoprotein complex (DGC)	6	19.1×	5e-05	SGCA, SGCD, ACTC1, DMD, DTNA, LAMA4
Phase 3 - rapid repolarisation	4	47.1×	7e-05	AKAP9, KCNE1, KCNE3, KCNQ1
Interaction between L1 and Ankyrins	5	19.0×	4e-04	SCN10A, SCN1B, SCN5A, SCN3B, ANK2
Non-integrin membrane-ECM interactions	6	9.6×	0.002	SGCA, SGCD, TTR, ACTC1, DMD, LAMA4
Ion homeostasis	5	10.5×	0.005	RYR2, TNNI3, CASQ2, ABCC9, PLN
Regulation of CDH1 Function	3	29.4×	0.006	VCL, ACTC1, JUP
Depolymerization of the Nuclear Lamina	3	23.6×	0.011	TMPO, EMD, LMNA
Axon guidance	9	4.2×	0.011	SCN10A, SCN1B, SCN5A, SOS1, CACNA1C, CACNB2, SCN3B, ANK2 (+1 more)
HCN channels	2	58.9×	0.014	HCN4, HCN2
Nervous system development	9	4.0×	0.014	SCN10A, SCN1B, SCN5A, SOS1, CACNA1C, CACNB2, SCN3B, ANK2 (+1 more)
Initiation of Nuclear Envelope (NE) Reformation	3	18.6×	0.017	TMPO, EMD, LMNA
Formation of the cornified envelope	6	5.4×	0.025	DSC2, DSC3, DSG2, DSP, JUP, PKP2
Nuclear Envelope Breakdown	3	14.1×	0.034	TMPO, EMD, LMNA
L1CAM interactions	5	6.2×	0.034	SCN10A, SCN1B, SCN5A, SCN3B, ANK2
Role of ABL in ROBO-SLIT signaling	2	26.2×	0.060	CLASP1, ABL1
Signaling by BRAF and RAF1 fusions	4	7.0×	0.060	BRAF, VCL, AKAP9, LMNA
Elastic fibre formation	3	10.4×	0.068	TGFB3, ELN, LOX
Signaling by FGFR3	2	23.6×	0.068	BRAF, SOS1
Apoptotic cleavage of cell adhesion proteins	2	21.4×	0.076	DSG2, DSP
Signaling by FGFR4	2	21.4×	0.076	BRAF, SOS1
Activated NTRK2 signals through FRS2 and FRS3	2	19.6×	0.084	SOS1, PTPN11
Extracellular matrix organization	6	3.9×	0.084	SGCA, SGCD, TGFB3, ACTC1, LAMA4, LOX
Platelet degranulation	5	4.5×	0.090	TGFB3, TTN, VCL, ACTN2, LAMP2
Signaling by FGFR1	2	16.8×	0.093	BRAF, SOS1
Diseases of carbohydrate metabolism	2	16.8×	0.093	GAA, NAGLU

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 123 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	22	71.8×	7e-34	TNNT2, RYR2, SCN1B, SCN5A, TCAP, TNNC1, TNNI3, TPM1 (+14 more)
regulation of heart rate by cardiac conduction	17	51.8×	8e-23	SCN1B, SCN5A, CACNA1C, CACNB2, HCN4, TRPM4, SCN3B, DSC2 (+9 more)
sarcomere organization	16	49.8×	3e-21	TNNT2, TCAP, TPM1, TTN, MYOZ2, LDB3, OBSCN, ANKRD1 (+8 more)
ventricular cardiac muscle cell action potential	10	80.6×	2e-15	RYR2, SCN5A, CAV3, SCN3B, GPD1L, ANK2, KCNE1, KCNE3 (+2 more)
ventricular cardiac muscle tissue morphogenesis	10	57.1×	1e-13	TNNT2, TNNC1, TNNI3, TPM1, MYBPC3, MYH6, MYH7, MYL2 (+2 more)
regulation of heart rate	11	41.9×	2e-13	RYR2, SCN10A, SCN5A, CASQ2, CAV3, HCN4, GPD1L, DMD (+3 more)
regulation of ventricular cardiac muscle cell action potential	8	91.3×	5e-13	RYR2, CACNA1C, TRPM4, DSC2, DSG2, DSP, JUP, PKP2
muscle filament sliding	8	68.5×	1e-11	TNNT2, TCAP, TNNC1, TNNI3, TPM1, TTN, MYH6, MYH7
cardiac muscle cell development	9	45.7×	2e-11	SGCD, TCAP, TTN, CAV3, ACTN2, ALPK3, MYO18B, MYH6 (+1 more)
regulation of ventricular cardiac muscle cell membrane repolarization	8	54.8×	8e-11	SCN1B, SCN5A, CAV3, AKAP9, ANK2, KCNE1, KCNE3, KCNQ1
regulation of the force of heart contraction	7	56.4×	2e-09	CSRP3, GAA, MYH6, MYH7, MYL2, MYL3, PLN
muscle contraction	11	18.6×	2e-09	SGCA, TTN, HCN4, FKRP, CRYAB, DES, EMD, MYH6 (+3 more)
striated muscle contraction	7	48.0×	6e-09	RYR2, TTN, CASQ2, MYLK2, DTNA, MYH6, MYH7
regulation of heart contraction	8	32.2×	8e-09	TNNT2, TPM1, CAV3, CHRM2, DES, KCNQ1, MYH6, PLN
membrane depolarization during cardiac muscle cell action potential	6	68.5×	9e-09	SCN1B, SCN5A, CACNA1C, HCN4, SCN3B, HCN2
cardiac myofibril assembly	6	63.2×	2e-08	TCAP, TTN, ACTC1, CSRP3, FHOD3, MYL2
cardiac muscle cell action potential involved in contraction	7	40.0×	2e-08	SCN10A, SCN1B, SCN5A, CACNA1C, SCN3B, KCNE1, PKP2
bundle of His cell-Purkinje myocyte adhesion involved in cell communication	5	97.9×	2e-08	DSC2, DSG2, DSP, JUP, PKP2
muscle cell cellular homeostasis	7	36.9×	3e-08	CSRP3, DMD, GAA, LAMP2, LOX, PLN, BAG3
cardiac muscle hypertrophy	5	68.5×	2e-07	RYR2, TCAP, TTN, CAV3, CSRP3
cardiac muscle cell contraction	5	68.5×	2e-07	SGCD, TNNC1, ABCC9, KCNE1, KCNQ1
membrane depolarization during AV node cell action potential	4	109.6×	7e-07	SCN5A, CACNA1C, CACNB2, TRPM4
cardiac muscle tissue morphogenesis	5	57.1×	7e-07	TCAP, TTN, ACTC1, ANKRD1, MYLK2
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	6	32.9×	1e-06	RYR2, CACNA1C, CASQ2, DMD, ANK2, PLN
regulation of ventricular cardiac muscle cell membrane depolarization	4	91.3×	2e-06	SCN5A, CAV3, SCN3B, GPD1L
SA node cell action potential	4	91.3×	2e-06	SCN5A, HCN4, SCN3B, ANK2
muscle organ development	9	12.2×	2e-06	SGCA, SGCD, CAV3, CRYAB, CTF1, DMD, EMD, FKTN (+1 more)
heart development	12	7.7×	2e-06	SOD2, TGFB3, TNNI3, CACNA1C, LDB3, ALPK3, PDLIM3, KCNQ1 (+4 more)
detection of muscle stretch	4	78.3×	4e-06	TCAP, TTN, CAV3, CSRP3
regulation of cardiac muscle contraction	5	36.0×	8e-06	RYR2, SCN10A, CAV3, HCN4, ANK2

Therapeutics

Drugs indicated for this disease

1 approved, 7 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Tafamidis	Approved (phase 4)
Amiodarone	Phase 3 (in late-stage trials)
Azathioprine	Phase 3 (in late-stage trials)
Enalapril	Phase 3 (in late-stage trials)
Eplerenone	Phase 3 (in late-stage trials)
Human Immunoglobulin G	Phase 3 (in late-stage trials)
Nesiritide	Phase 3 (in late-stage trials)
Prednisone	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Adenosine, Atorvastatin, Carvedilol, INTERFERON BETA-1B, Lisinopril Anhydrous, Mycophenolate Mofetil, Pravastatin, Prednisolone, Spironolactone.

Drug target analysis

Approved (phase 4): 11 · Phase ≥3: 13 · Phased (≥1): 16 · Undrugged: 59

Druggability breadth: 61 of 137 evidence-associated genes (45%) 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
SCN10A	IMIPRAMINE
SCN5A	BEPRIDIL
BRAF	VEMURAFENIB
SOS1	IDARUBICIN
TNNC1	FINGOLIMOD
TTR	TRICLABENDAZOLE
CACNA1C	REMIFENTANIL
CACNB2	NIMODIPINE
MYLK2	FEDRATINIB
HCN4	IVABRADINE
CHRM2	CARBACHOL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CHRM2	375	4
SCN5A	108	4
CACNA1C	85	4
BRAF	48	4
TTR	29	4
SCN10A	21	4
CDK13	20	3
MYLK2	19	4
SOS1	5	4
TXNRD2	3	3

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
IMIPRAMINE	4	CACNA1C, CHRM2, SCN10A, SCN5A
SERTINDOLE	4	CACNA1C, SCN10A, SCN5A
PIMOZIDE	4	CACNA1C, CHRM2, SCN10A, SCN5A
NIFEDIPINE	4	CACNA1C, SCN10A, SCN5A
DILTIAZEM	4	CACNA1C, SCN10A, SCN5A
MIBEFRADIL	4	CACNA1C, CHRM2, SCN10A, SCN5A
HALOPERIDOL	4	CACNA1C, CHRM2, SCN10A, SCN5A
MEXILETINE	4	CACNA1C, SCN10A, SCN5A
AMITRIPTYLINE	4	CACNA1C, CHRM2, SCN10A, SCN5A
AMIODARONE	4	CACNA1C, CHRM2, SCN10A, SCN5A
CHLORPROMAZINE	4	CACNA1C, CHRM2, SCN10A, SCN5A
LAMOTRIGINE	4	SCN10A, SCN5A
BEPRIDIL	4	CACNA1C, SCN5A
CANDESARTAN CILEXETIL	4	CHRM2, SCN5A
TELMISARTAN	4	CHRM2, SCN5A
CARBAMAZEPINE	4	SCN5A
DIBUCAINE	4	CACNA1C, SCN5A
DROPERIDOL	4	CACNA1C, SCN5A
PONATINIB	4	BRAF, CHRM2, SCN5A
DULOXETINE	4	CACNA1C, SCN5A
PALONOSETRON	4	SCN5A
VILANTEROL	4	SCN5A
MEXILETINE HYDROCHLORIDE	4	SCN5A
UNOPROSTONE ISOPROPYL	4	SCN5A
LURASIDONE	4	CHRM2, SCN5A
LETERMOVIR	4	SCN5A
FEDRATINIB	4	BRAF, MYLK2, SCN5A
QUINIDINE	4	CACNA1C, SCN5A
DARUNAVIR	4	SCN5A
DARIFENACIN	4	CHRM2, 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
CHRM2	1,316	Binding:958, Functional:339, ADMET:17, Unclassified:1, Toxicity:1
SCN5A	594	Binding:380, Functional:98, ADMET:72, Toxicity:43, Unclassified:1
CACNA1C	575	Binding:319, Functional:211, Toxicity:26, ADMET:19
TTR	423	Binding:391, Functional:32
SOS1	421	Binding:409, Functional:12
CDK13	257	Binding:250, Functional:7
MYLK2	196	Binding:196
SCN10A	144	Binding:124, Functional:16, ADMET:4
TXNRD2	91	Binding:76, Functional:15
HCN4	30	Binding:20, ADMET:5, Functional:4, Toxicity:1
CACNB2	22	Binding:20, ADMET:1, Toxicity:1
RYR2	15	Binding:15
SCN1B	15	Binding:7, ADMET:6, Toxicity:2
UMPS	14	Binding:14
TRPM4	14	Binding:13, Functional:1
CRYAB	13	Binding:13
CLASP1	10	Binding:10
ALPK3	10	Binding:10
TNNC1	8	Binding:8
TMPO	7	Binding:7
ACTC1	6	Binding:6
TPM1	3	Binding:3
TNNT2	2	Binding:2
SOD2	2	Binding:2
TNNI3	2	Binding:2
VCL	2	Binding:2
SLC30A5	1	Binding:1
TAFAZZIN	1	Binding:1
TGFB3	1	Binding:1
TTN	1	Binding:1
COX15	1	Binding:1
TMEM43	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
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
TTN	2.7.11.1	non-specific serine/threonine protein kinase
UMPS	4.1.1.23	orotidine-5’-phosphate decarboxylase
MYLK2	2.7.11.18	myosin-light-chain kinase
CDK13	2.7.11.22, 2.7.11.23	cyclin-dependent kinase, [RNA-polymerase]-subunit kinase
TXNRD2	1.8.1.9	thioredoxin-disulfide reductase (NADPH)

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
SCN10A	144
SCN5A	594
BRAF	1,442
SOS1	421
TTR	423
CACNA1C	575
MYLK2	196
CDK13	257
CHRM2	1,316

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

29 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)
IMIPRAMINE	4	CACNA1C, CHRM2, SCN10A, SCN5A
SERTINDOLE	4	CACNA1C, SCN10A, SCN5A
PIMOZIDE	4	CACNA1C, CHRM2, SCN10A, SCN5A
NIFEDIPINE	4	CACNA1C, SCN10A, SCN5A
DILTIAZEM	4	CACNA1C, SCN10A, SCN5A
MIBEFRADIL	4	CACNA1C, CHRM2, SCN10A, SCN5A
HALOPERIDOL	4	CACNA1C, CHRM2, SCN10A, SCN5A
MEXILETINE	4	CACNA1C, SCN10A, SCN5A
AMITRIPTYLINE	4	CACNA1C, CHRM2, SCN10A, SCN5A
CHLORPROMAZINE	4	CACNA1C, CHRM2, SCN10A, SCN5A
LAMOTRIGINE	4	SCN10A, SCN5A
BEPRIDIL	4	CACNA1C, SCN5A
CANDESARTAN CILEXETIL	4	CHRM2, SCN5A
TELMISARTAN	4	CHRM2, SCN5A
CARBAMAZEPINE	4	SCN5A
DIBUCAINE	4	CACNA1C, SCN5A
DROPERIDOL	4	CACNA1C, SCN5A
PONATINIB	4	BRAF, CHRM2, SCN5A
DULOXETINE	4	CACNA1C, SCN5A
PALONOSETRON	4	SCN5A
VILANTEROL	4	SCN5A
MEXILETINE HYDROCHLORIDE	4	SCN5A
UNOPROSTONE ISOPROPYL	4	SCN5A
LURASIDONE	4	CHRM2, SCN5A
LETERMOVIR	4	SCN5A
FEDRATINIB	4	BRAF, MYLK2, SCN5A
QUINIDINE	4	CACNA1C, SCN5A
DARUNAVIR	4	SCN5A
DARIFENACIN	4	CHRM2, SCN5A

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	11	SCN10A, SCN5A, BRAF, SOS1, TNNC1, TTR, CACNA1C, CACNB2, MYLK2, HCN4 (+1 more)
B	Phased (≥1) drug, not yet approved	5	RYR2, SCN1B, UMPS, CDK13, TXNRD2
C	Druggable family + PDB, no drug	5	SOD2, TTN, OBSCN, TRPM4, SCN3B
D	Druggable family + AlphaFold only, no drug	7	SLC2A6, TRIB3, ALPK3, CORIN, COX15, MYPN, NEXN
E	Difficult family or no structure, no drug	47	TNNT2, FHL2, SLC30A5, PTCD1, RPL3L, SGCA, SGCD, DST, SLC4A3, TAF10 (+37 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
JPH2	0	RYR2
CASQ2	0	RYR2, CACNA1C
SCN3B	0	SCN5A
GPD1L	0	SCN5A, SCN1B, CACNB2
TNNT2	2	—
FHL2	0	—
SLC2A6	0	—
SOD2	2	—
TRIB3	0	—
SLC30A5	1	—
PTCD1	0	—
RPL3L	0	—
SGCA	0	—
SGCD	0	—
DST	0	—
SLC4A3	0	—
TAF10	0	—
TAFAZZIN	1	—
TCAP	0	—
TGFB3	1	—
TMPO	7	—
TNNI3	2	—
TPM1	3	—
TTN	1	—
UQCRFS1	0	—
VCL	2	—
MYOZ2	0	—
DCHS1	0	—
ACTC1	6	—
CAV3	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 324.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	251
PHASE4	19
PHASE3	18
PHASE2	14
PHASE1	11
PHASE1/PHASE2	8
PHASE2/PHASE3	2
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05034432	PHASE4	RECRUITING	The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients
NCT05718128	PHASE4	RECRUITING	Clinical Study of Endocardial Myocardial Biopsy
NCT06964464	PHASE4	RECRUITING	Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator
NCT00348530	PHASE4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	PHASE4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	PHASE4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	PHASE4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	PHASE4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	PHASE4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	PHASE4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	PHASE4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	PHASE4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
NCT01261065	PHASE4	COMPLETED	Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188	PHASE4	COMPLETED	Ranolazine in Ischemic Cardiomyopathy
NCT01868841	PHASE4	COMPLETED	123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System
NCT02640846	PHASE4	UNKNOWN	Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823	PHASE4	UNKNOWN	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)
NCT04323852	PHASE4	COMPLETED	Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery?
NCT06158698	PHASE3	RECRUITING	CMP-MYTHiC Trial and Registry - CardioMyoPathy With MYocarditis THerapy With Colchicine
NCT06563895	PHASE3	RECRUITING	Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
NCT06846086	PHASE3	RECRUITING	Cardioprotective Effects of Melatonin in Patients With Cardiomyopathy
NCT07116473	PHASE3	NOT_YET_RECRUITING	To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
NCT00170183	PHASE3	COMPLETED	Brain Natriuretic Peptide (BNP) to Preserve Renal Function in Hospitalized Patients With Heart Failure
NCT00270387	PHASE3	COMPLETED	A Study of Short-Term Outcomes and Economic Impact For Patients With Worsening Congestive Heart Failure When Natrecor (Nesiritide) is Added to Standard-Care Therapy, Compared to Administration of Placebo With Standard-Care Therapy
NCT00321295	PHASE3	COMPLETED	Biventricular Pacing In Patients With Left Ventricular Dysfunction After Cardiovascular Surgery
NCT00483197	PHASE3	UNKNOWN	VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Pivotal Trial
NCT00490321	PHASE3	UNKNOWN	VentrAssistTM LVAD for the Treatment of Advanced Heart Failure - Destination Therapy
NCT00626028	PHASE3	COMPLETED	Comparison of Inhaled Nitric Oxide and Oxygen in Participants Reactivity During Acute Pulmonary Vasodilator Testing
NCT00691470	PHASE2/PHASE3	UNKNOWN	Comparison of ATI-5923, a Novel Vitamin K Antagonist, With Warfarin in Patients Requiring Chronic Anticoagulation
NCT01013714	PHASE3	UNKNOWN	Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias
NCT01217827	PHASE3	COMPLETED	Implantable Cardioverter-Defibrillator Use in the VA System
NCT01648634	PHASE3	COMPLETED	Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
NCT02247427	PHASE2/PHASE3	COMPLETED	Clinical Outcomes Related to Cardiac Resynchronization Therapy Deactivation of Super Responders
NCT02924285	PHASE3	COMPLETED	Catheter Ablation Versus Amiodarone for Therapy of Premature Ventricular Contractions in Patients With Structural Heart Disease
NCT03860935	PHASE3	COMPLETED	Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy
NCT04166331	PHASE3	COMPLETED	Adjunctive DobutAmine in sePtic Cardiomyopathy With Tissue Hypoperfusion
NCT05175066	PHASE3	COMPLETED	Bisoprolol Administration to Prevent Anthracycline-induced Cardiotoxicity
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05371496	PHASE2	ENROLLING_BY_INVITATION	Cardiac and Metabolic Effects of Semaglutide in Heart Failure With Preserved Ejection Fraction

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ACORAMIDIS	4	3
AMIODARONE	4	3
BISOPROLOL	4	3
CARVEDILOL	4	3
METOPROLOL	4	3
NESIRITIDE	4	3
ATORVASTATIN	4	2
LISINOPRIL ANHYDROUS	4	2
RANOLAZINE	4	2
URSODIOL	4	2
ZINC ACETATE ANHYDROUS	4	2
ADENOSINE	4	1
BIVALIRUDIN	4	1
CAPTOPRIL	4	1
DEFERIPRONE	4	1
DEFEROXAMINE	4	1
DOBUTAMINE	4	1
EPLERENONE	4	1
ERGOCALCIFEROL	4	1
ETOMIDATE	4	1
FLECAINIDE	4	1
FLECAINIDE ACETATE	4	1
GADOBUTROL	4	1
IOBENGUANE SULFATE I 123	4	1
KETAMINE HYDROCHLORIDE	4	1
MAVACAMTEN	4	1
MILRINONE	4	1
NEBIVOLOL	4	1
NITRIC OXIDE	4	1
NOREPINEPHRINE	4	1