CTF1

Summary

CTF1 (cardiotrophin 1, HGNC:2499) is a protein-coding gene on chromosome 16p11.2, encoding Cardiotrophin-1 (Q16619). Induces cardiac myocyte hypertrophy in vitro.

The protein encoded by this gene is a secreted cytokine that induces cardiac myocyte hypertrophy in vitro. It has been shown to bind and activate the ILST/gp130 receoptor. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 1489 — RefSeq curated summary.

At a glance

• Gene–disease (curated): dilated cardiomyopathy (Limited, ClinGen)
• GWAS associations: 4
• Clinical variants (ClinVar): 224 total
• Phenotypes (HPO): 2
• MANE Select transcript: NM_001330

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2499
Approved symbol	CTF1
Name	cardiotrophin 1
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Aliases	CT-1, CT1
Ensembl gene	ENSG00000150281
Ensembl biotype	protein_coding
OMIM	600435
Entrez	1489

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000279804, ENST00000395019

RefSeq mRNA: 2 — MANE Select: NM_001330 NM_001142544, NM_001330

CCDS: CCDS10694, CCDS45464

Canonical transcript exons

ENST00000279804 — 3 exons

Exon	Start	End
ENSE00001148702	30896614	30896668
ENSE00001174773	30899415	30899533
ENSE00001241259	30902078	30903547

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 89.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.4879 / max 54.2742, expressed in 1085 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153740	3.4879	1085

Top tissues by expression

280 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	89.11	gold quality
hindlimb stylopod muscle	UBERON:0004252	84.09	gold quality
body of uterus	UBERON:0009853	83.93	gold quality
popliteal artery	UBERON:0002250	83.63	gold quality
tibial artery	UBERON:0007610	83.61	gold quality
lower esophagus muscularis layer	UBERON:0035833	83.35	gold quality
lower esophagus	UBERON:0013473	83.30	gold quality
left ovary	UBERON:0002119	83.15	gold quality
right atrium auricular region	UBERON:0006631	82.63	gold quality
right ovary	UBERON:0002118	82.45	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	82.40	gold quality
heart left ventricle	UBERON:0002084	82.37	gold quality
aorta	UBERON:0000947	82.31	gold quality
endocervix	UBERON:0000458	82.24	gold quality
gastrocnemius	UBERON:0001388	82.11	gold quality
muscle of leg	UBERON:0001383	81.78	gold quality
cardiac ventricle	UBERON:0002082	81.77	gold quality
cardiac atrium	UBERON:0002081	81.33	gold quality
left uterine tube	UBERON:0001303	81.25	gold quality
right coronary artery	UBERON:0001625	81.10	gold quality
ascending aorta	UBERON:0001496	80.99	gold quality
thoracic aorta	UBERON:0001515	80.95	gold quality
muscle layer of sigmoid colon	UBERON:0035805	80.53	gold quality
ectocervix	UBERON:0012249	80.52	gold quality
stromal cell of endometrium	CL:0002255	80.47	gold quality
heart	UBERON:0000948	79.93	gold quality
left coronary artery	UBERON:0001626	79.68	gold quality
right lung	UBERON:0002167	79.31	gold quality
right adrenal gland	UBERON:0001233	79.04	gold quality
right adrenal gland cortex	UBERON:0035827	78.78	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.28
E-MTAB-6142	no	11.38

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

Target	Regulation
GCH1	Repression
TH	Repression

Upstream regulators (CollecTRI, top): HIF1A

miRNA regulators (miRDB)

39 targeting CTF1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-1296-3P	99.72	64.04	636
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-519A-2-5P	98.78	71.74	1401
HSA-MIR-520B-5P	98.78	71.74	1401

Literature-anchored findings (GeneRIF, showing 38)

• upregulation of cardiotrophin-1 in congestive heart failure (PMID:12234945)
• Leukemia inhibitory factor (LIF), cardiotrophin-1, and oncostatin M share structural binding determinants in the immunoglobulin-like domain of LIF receptor (PMID:12707269)
• Our study clearly demonstrates production of CT-1 in the postnatal and adult CNS, specifically by cell types comprising the blood-CSF barrier, and its accumulation in ventricular ependyma. (PMID:15219667)
• Data show that cardiotrophin (CT-1) is a potent regulator of signaling in adipocytes in vitro and in vivo. (PMID:15339920)
• CT-1 and TGF-beta 1 exert differential effects on myofibroblast proliferation and contraction in vitro. A balance of these effects may be important for normal cardiac wound healing. (PMID:17483238)
• adipose tissue can be recognized as a source of CT-1, which could account for the high circulating levels of CT-1 in patients with metabolic syndrome X (PMID:17940213)
• Increased expression of some IL-6 cytokine family members (oncostatin M, gp130, CT-1, LIF) in cutaneous inflammation might contribute to the promotion of hair loss. (PMID:17979974)
• Perioperative plasma brain natriuretic peptide and cardiotrophin-1 measured in off-pump coronary artery bypass. (PMID:18609050)
• Plasma cardiotrophin-1 is associated with progression of heart failure in hypertensive patients. (PMID:19155793)
• Results indicate that transcription factors such as CTF1 can act to delimit chromatin domain boundaries at mammalian telomeres, thereby blocking the propagation of a silent chromatin structure. (PMID:19273604)
• This study aims to analyse cardiotrophin-1 (CT-1) and Tumor Necrosis Factor-alpha (TNF-alpha) plasma levels at rest and during exercise in elite athletes and healthy controls. (PMID:20053569)
• Data show that both protein synthesis and intracellular transport are essential for cardiotrophin-1 induced TNFalpha expression. (PMID:20224758)
• the 1742(C/G) polymorphism of the human CT-1 gene is associated with LVH in hypertension, and the GG genotype may have a protective role (PMID:20683337)
• CT-1 treatment of myofibroblasts was associated with increased phosphorylation of myosin light chain kinase via myosin light chain kinase to induce cell migration. (PMID:21572008)
• Hypoxia increased cardiotrophin-1 levels in cardiac cells through a direct regulation of CT-1 promoter by HIF-1alpha, protecting cells from apoptosis. (PMID:21771897)
• Cardiotrophin-1 may serve as both a biomarker of left ventricular hypertrophy and dysfunction in hypertensive patients, and is potential target for therapies aimed to prevent and treat hypertensive heart disease beyond blood pressure control. (PMID:22418690)
• A reduction in serum CT-1 levels after a WL program. (PMID:23856329)
• CT-1 induces the proteolytic potential in human aortic endothelial cells by upregulating MMP-1 expression. (PMID:23935888)
• Subjects with impaired glucose tolerance (IGT) and newly diagnosed diabetes (NDD) have significantly higher CT-1 concentrations than those with normal glucose tolerance. IGT and NDD are positively associated with CT-1 concentrations. (PMID:24054317)
• CT-1 is differentially induced in the myocardium of infants with congenital cardiac defects depending on hypoxemia, and may mediate myocardial hypertrophy and dysfunction. (PMID:24344663)
• exaggerated cardiomyocyte production of cardiotrophin-1 in response to increased left ventricular end-diastolic stress may contribute to fibrosis through stimulation of fibroblasts in heart failure of hypertensive origin. (PMID:24366078)
• Study correlates CT-1 levels with ambulatory and central BP, as well as with pulse wave velocity in patients with essential hypertension. (PMID:24401751)
• this study, even though preliminary and awaiting further confirmation by independent replication, provides first evidence that common genetic variation in CTF1 could contribute to insulin sensitivity in humans. (PMID:25025664)
• Data show that cardiotrophin-1 is positively related to brachial-ankle pulse-wave velocity (baPWV) independent of traditional cardiometabolic risk factors for arterial stiffness. (PMID:25689900)
• biliary epithelium-derived CT-1 may exert a profibrogenic potential in PCLD. (PMID:25919795)
• This paper will review many aspects of CT-1 physiological role in several organs and discuss data for consideration in therapeutic approaches. (PMID:26188636)
• CT-1 was found to be associated with Tn-I, which is used to detect myocardial damage after OPCAB surgery. CT-1 may also be used to detect myocardial damage. (PMID:26334851)
• non-diabetic subjects who were overweight or obesity had significantly lower cardiotrophin-1 concentrations than those with normal weight, and both obesity and being overweight were inversely associated with cardiotrophin-1 levels. (PMID:26621340)
• Cardiotrophin-1 levels were not an independent predictor of all-cause mortality in hemodialysis patients. (PMID:26787685)
• a transcriptional factor, Myc-associated zinc finger protein (MAZ), plays an important role in ADAM10 transcription in response to CT-1 in neural stem/progenitor cells. (PMID:26867947)
• Data suggest that, in children with pediatric obesity, lifestyle weight-loss intervention results in down-regulation of serum cardiotrophin-1 (CTF1), interleukin-6 (IL6), and tumor necrosis factor-alpha (TNFA); expression of CTF1, IL6, and TNFA is also down-regulated in peripheral blood mononuclear cells after improvement in adiposity, body mass index, and waist-hip ratio. (PMID:28749076)
• We identify the cytokine cardiotrophin 1 (CT1) as a factor capable of recapitulating the key features of physiologic growth of the heart including transient and reversible hypertrophy of the myocardium, and stimulation of cardiomyocyte-derived angiogenic signals leading to increased vascularity (PMID:28785017)
• study indicates that variations in dietary salt intake affect the serum Cardiotrophin-1 levels in Chinese adults. (PMID:30408810)
• CT-1 may be considered as an additional sensitive and specific prognostic marker complementary to the conventional markers such as NT-proBNP, usable in the stratification of the adverse cardiac events risk in patients with symptomatic, systolic heart failure (PMID:30724267)
• A quantitative detection of Cardiotrophin-1 in chronic heart failure by chemiluminescence immunoassay. (PMID:33713510)
• Tumor-derived CTF1 (cardiotrophin 1) is a critical mediator of stroma-assisted and autophagy-dependent breast cancer cell migration, invasion and metastasis. (PMID:35722965)
• Osteoprotegerin, Chitinase 3-like Protein 1, and Cardiotrophin-1 as Potential Biomarkers of Obstructive Sleep Apnea in Adults-A Case-Control Study. (PMID:36768925)
• Investigation of maternal serum cardiotrophin-1 concentrations in pregnant women with preeclampsia; a prospective case-control study. (PMID:37369375)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ctf1	ENSMUSG00000042340
rattus_norvegicus	Ctf1	ENSRNOG00000018962

Paralogs (1): CLCF1 (ENSG00000175505)

Protein

Protein identifiers

Cardiotrophin-1 — Q16619 (reviewed: Q16619)

All UniProt accessions (1): Q16619

UniProt curated annotations — full annotation on UniProt →

Function. Induces cardiac myocyte hypertrophy in vitro. Binds to and activates the ILST/gp130 receptor.

Subcellular location. Secreted.

Tissue specificity. Highly expressed in heart, skeletal muscle, prostate and ovary. Lower levels in lung, kidney, pancreas, thymus, testis and small intestine. Little or no expression in brain, placenta, liver, spleen, colon or peripheral blood leukocytes.

Similarity. Belongs to the IL-6 superfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q16619-1	1	yes
Q16619-2	2

RefSeq proteins (2): NP_001136016, NP_001321* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009079	4_helix_cytokine-like_core	Homologous_superfamily
IPR010681	PRF/CT	Family

UniProt features (3 total): chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16619-F1	85.94	0.68

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6788467	IL-6-type cytokine receptor ligand interactions

MSigDB gene sets: 119 (showing top): PAX4_01, GOBP_REGULATION_OF_PHOSPHORYLATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_NEUROGENESIS, GOBP_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY_VIA_JAK_STAT, GOBP_POSITIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION, GOBP_CELL_CELL_SIGNALING, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GATA3_01, MARTINEZ_RB1_TARGETS_DN, GOBP_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS, chr16p11, MODULE_157, GOMF_CYTOKINE_ACTIVITY, MODULE_113

GO Biological Process (8): cell surface receptor signaling pathway via JAK-STAT (GO:0007259), cell-cell signaling (GO:0007267), nervous system development (GO:0007399), muscle organ development (GO:0007517), positive regulation of cell population proliferation (GO:0008284), neuron differentiation (GO:0030182), positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531), neuron development (GO:0048666)

GO Molecular Function (3): cytokine activity (GO:0005125), leukemia inhibitory factor receptor binding (GO:0005146), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Interleukin-6 family signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell surface receptor signaling pathway via STAT	1
cell communication	1
signaling	1
system development	1
animal organ development	1
muscle structure development	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
cell differentiation	1
generation of neurons	1
tyrosine phosphorylation of STAT protein	1
regulation of tyrosine phosphorylation of STAT protein	1
positive regulation of peptidyl-tyrosine phosphorylation	1
neuron differentiation	1
cell development	1
receptor ligand activity	1
cytokine receptor binding	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

822 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CTF1	LIFR	P42702	968
CTF1	CNTFR	P26992	943
CTF1	PIR	O00625	910
CTF1	CNTF	P26441	874
CTF1	OSM	P13725	866
CTF1	OSMR	Q99650	863
CTF1	LIF	P15018	856
CTF1	IL11	P20809	846
CTF1	CLCF1	Q9UBD9	841
CTF1	IL6ST	P40189	811
CTF1	CEBPZ	Q03701	805
CTF1	IL6	P05231	732
CTF1	IL11RA	Q14626	696
CTF1	IL6R	P08887	676
CTF1	STAT3	P40763	612

IntAct

10 interactions, top by confidence:

A	B	Type	Score
MAGEA6	CTF1	psi-mi:“MI:0915”(physical association)	0.560
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
SORT1	CTF1	psi-mi:“MI:0407”(direct interaction)	0.440
S100A6	VWA8	psi-mi:“MI:0914”(association)	0.350
CRLF1	PRSS23	psi-mi:“MI:0914”(association)	0.350
LIFR	TAF1	psi-mi:“MI:0914”(association)	0.350
SCGN	CNOT1	psi-mi:“MI:0914”(association)	0.350

BioGRID (14): MAGEA6 (Two-hybrid), MAGEA6 (Two-hybrid), CTF1 (Affinity Capture-MS), CTF1 (Affinity Capture-MS), CTF1 (Affinity Capture-MS), CTF1 (Affinity Capture-MS), CTF1 (Affinity Capture-MS), CTF1 (Reconstituted Complex), S100A1 (Reconstituted Complex), S100A6 (Reconstituted Complex), S100P (Reconstituted Complex), CTF1 (Affinity Capture-MS), EP300 (Reconstituted Complex), APP (Reconstituted Complex)

ESM2 similar proteins: A0A140LIA7, A0A1B0GTL2, A2VDX9, A3FFS8, A6NCS6, A8MVW0, K9M1U5, O43541, P01588, P03971, P03972, P07321, P07865, P0C7N4, P0DPE3, P13725, P27106, P29676, P33707, P33708, P33709, P48617, P49000, P49157, P53346, P79295, Q02011, Q0Z956, Q16619, Q1HCM0, Q28513, Q29RM6, Q5BLP8, Q5S1V9, Q60753, Q63086, Q65Z15, Q6H8S9, Q6H8T0, Q6H8T1

Diamond homologs: P83714, Q16619, Q60753, Q63086, Q6R2R2, Q9QZM3

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
CTF1	up-regulates	LIFR	binding
CTF1	“down-regulates quantity by repression”	GCH1	“transcriptional regulation”
CTF1	“down-regulates quantity by repression”	TH	“transcriptional regulation”
CTF1	up-regulates	IL6ST	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

224 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	133
Likely benign	74
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

485 predictions. Top by Δscore:

Variant	Effect	Δscore
16:30896660:G:GT	donor_gain	0.9900
16:30896660:G:T	donor_gain	0.9900
16:30899413:A:AG	acceptor_gain	0.9900
16:30899414:G:GG	acceptor_gain	0.9900
16:30899414:GAA:G	acceptor_gain	0.9900
16:30899457:T:A	acceptor_gain	0.9900
16:30899528:GAA:G	donor_gain	0.9900
16:30899534:G:GG	donor_gain	0.9900
16:30902074:GCA:G	acceptor_loss	0.9900
16:30902075:CA:C	acceptor_loss	0.9900
16:30896656:G:T	donor_gain	0.9800
16:30899414:GAAGA:G	acceptor_gain	0.9800
16:30899454:ACTT:A	acceptor_gain	0.9800
16:30902076:A:AG	acceptor_gain	0.9800
16:30902077:G:GG	acceptor_gain	0.9800
16:30896655:G:GT	donor_gain	0.9700
16:30899410:A:AG	acceptor_gain	0.9700
16:30899529:A:T	donor_gain	0.9700
16:30896667:GG:G	donor_gain	0.9600
16:30896668:GG:G	donor_gain	0.9600
16:30899454:A:AG	acceptor_gain	0.9600
16:30899458:G:A	acceptor_gain	0.9600
16:30899511:C:G	donor_gain	0.9600
16:30902077:GGT:G	acceptor_gain	0.9600
16:30899414:GA:G	acceptor_gain	0.9500
16:30902077:GGTGC:G	acceptor_gain	0.9500
16:30899409:CACCA:C	acceptor_loss	0.9400
16:30899410:ACCAG:A	acceptor_loss	0.9400
16:30899411:CCA:C	acceptor_loss	0.9400
16:30899414:G:C	acceptor_loss	0.9400

AlphaMissense

1237 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:30899531:T:C	Y48H	0.992
16:30902446:G:C	K171N	0.989
16:30902446:G:T	K171N	0.989
16:30899532:A:G	Y48C	0.987
16:30902114:T:C	F61L	0.985
16:30902116:C:A	F61L	0.985
16:30902116:C:G	F61L	0.985
16:30902099:T:C	F56L	0.984
16:30902101:C:A	F56L	0.984
16:30902101:C:G	F56L	0.984
16:30902436:T:G	F168C	0.983
16:30902453:G:A	G174R	0.980
16:30902453:G:C	G174R	0.980
16:30902483:T:A	W184R	0.979
16:30902483:T:C	W184R	0.979
16:30902485:G:C	W184C	0.979
16:30902485:G:T	W184C	0.979
16:30902089:G:C	Q52H	0.973
16:30902089:G:T	Q52H	0.973
16:30899532:A:C	Y48S	0.972
16:30902435:T:C	F168L	0.971
16:30902436:T:C	F168S	0.971
16:30902437:C:A	F168L	0.971
16:30902437:C:G	F168L	0.971
16:30902453:G:T	G174W	0.971
16:30902454:G:A	G174E	0.971
16:30899520:T:C	L44P	0.969
16:30902100:T:G	F56C	0.968
16:30899499:T:C	L37P	0.964
16:30899510:G:C	A41P	0.964

dbSNP variants (sampled 300 via entrez): RS1000000851 (16:30894082 C>A), RS1000096903 (16:30894283 A>G,T), RS1000299215 (16:30900163 T>C), RS1000561968 (16:30900635 G>A), RS1000616265 (16:30900982 C>T), RS1000901200 (16:30901846 A>T), RS1001100689 (16:30895713 C>G,T), RS1001355081 (16:30902144 C>A), RS1001898613 (16:30901742 T>C), RS1002576961 (16:30897277 T>A,C,G), RS1002629083 (16:30897585 A>C), RS1003166295 (16:30902470 C>A,T), RS1003256221 (16:30897833 C>T), RS1003573085 (16:30903724 G>T), RS1003678302 (16:30896040 G>C)

Disease associations

OMIM: gene MIM:600435 | disease phenotypes:

GenCC curated gene-disease

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
dilated cardiomyopathy	Limited	AD

Mondo (3): cardiomyopathy (MONDO:0004994), hypertrophic cardiomyopathy (MONDO:0005045), dilated cardiomyopathy (MONDO:0005021)

Orphanet (3): Rare cardiomyopathy (Orphanet:167848), Rare hypertrophic cardiomyopathy (Orphanet:217569), Dilated cardiomyopathy (Orphanet:217604)

HPO phenotypes

2 total (2 of 2 shown, HPO-id order):

HPO	Term
HP:0001639	Hypertrophic cardiomyopathy
HP:0001644	Dilated cardiomyopathy

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000758_24	Triglycerides	3.000000e-08
GCST002216_24	Triglycerides	2.000000e-07
GCST004237_17	Triglyceride levels	9.000000e-09
GCST004601_138	Red blood cell count	2.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0004305	erythrocyte count

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D009202	Cardiomyopathies	C14.280.238
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression, increases expression	4
afuresertib	increases expression	1
mancozeb	decreases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	decreases methylation	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
caffeic acid	decreases expression, increases reaction	1
4-methoxycinnamate methyl ester	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
Arsenic Trioxide	affects binding, decreases reaction	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases expression	1
Carmustine	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Drugs, Chinese Herbal	decreases expression, increases reaction	1
Methapyrilene	decreases methylation	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Thapsigargin	decreases expression, increases reaction, affects cotreatment	1

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
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?
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
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
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
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
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)
NCT00185250	PHASE2	COMPLETED	Betaferon/ Betaseron (Interferon Beta-1b) in Patients With Chronic Viral Cardiomyopathy
NCT00490347	PHASE2	COMPLETED	VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Feasibility Trial
NCT00694161	PHASE2	COMPLETED	The Effects Of Fx-1006A On Transthyretin Stabilization And Clinical Outcome Measures In Patients With V122I Or Wild-Type TTR Amyloid Cardiomyopathy