PLN (phospholamban)

Gene

• Entrez ID: 5350
• Gene name: Phospholamban
• Gene symbol: PLN
• Synonyms (NCBI Gene): CMD1P, CMH18, PLB
• Chromosome: 6
• Chromosome location: 6q22.31
• Summary: The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated st

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1242996	hsa-miR-4753-3p	CLIP-seq
MIRT1242997	hsa-miR-4768-5p	CLIP-seq
MIRT2071803	hsa-miR-4263	CLIP-seq
MIRT1242996	hsa-miR-4753-3p	CLIP-seq
MIRT1242997	hsa-miR-4768-5p	CLIP-seq
MIRT2071804	hsa-miR-4773	CLIP-seq
MIRT2071805	hsa-miR-4799-5p	CLIP-seq
MIRT2071806	hsa-miR-576-5p	CLIP-seq
MIRT2071804	hsa-miR-4773	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001675	Process	Acrosome assembly	IEA
GO:0001675	Process	Acrosome assembly	ISS
GO:0002026	Process	Regulation of the force of heart contraction	IC	19708671
GO:0002026	Process	Regulation of the force of heart contraction	IEA
GO:0004857	Function	Enzyme inhibitor activity	ISS	12032137
GO:0005515	Function	Protein binding	IPI	15598648, 24722188, 25416956, 25910212, 28890335, 31515488, 32296183
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0006816	Process	Calcium ion transport	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	ISS
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008015	Process	Blood circulation	NAS	8406504
GO:0008016	Process	Regulation of heart contraction	IEA
GO:0008016	Process	Regulation of heart contraction	IMP	16432188
GO:0008542	Process	Visual learning	IEA
GO:0008542	Process	Visual learning	ISS
GO:0010043	Process	Response to zinc ion	IEA
GO:0010459	Process	Negative regulation of heart rate	IBA
GO:0010459	Process	Negative regulation of heart rate	IMP	16432188
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	19708671
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IBA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0031982	Component	Vesicle	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS
GO:0033574	Process	Response to testosterone	IEA
GO:0042030	Function	ATPase inhibitor activity	IBA
GO:0042030	Function	ATPase inhibitor activity	IDA	19708671
GO:0042030	Function	ATPase inhibitor activity	IEA
GO:0042030	Function	ATPase inhibitor activity	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0044325	Function	Transmembrane transporter binding	IPI	19708671
GO:0045475	Process	Locomotor rhythm	IEA
GO:0045475	Process	Locomotor rhythm	ISS
GO:0045822	Process	Negative regulation of heart contraction	IEA
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0050802	Process	Circadian sleep/wake cycle, sleep	IEA
GO:0050802	Process	Circadian sleep/wake cycle, sleep	ISS
GO:0051117	Function	ATPase binding	ISS	12032137
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IDA	19708671
GO:0051924	Process	Regulation of calcium ion transport	IDA	22427649, 26673394
GO:0051924	Process	Regulation of calcium ion transport	ISS
GO:0051926	Process	Negative regulation of calcium ion transport	IDA	19708671
GO:0055119	Process	Relaxation of cardiac muscle	TAS	22679139
GO:0086004	Process	Regulation of cardiac muscle cell contraction	IC	19708671
GO:0086004	Process	Regulation of cardiac muscle cell contraction	IDA	26673394
GO:0086004	Process	Regulation of cardiac muscle cell contraction	IEA
GO:0086023	Process	Adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process	IEA
GO:0086036	Process	Regulation of cardiac muscle cell membrane potential	IC	19708671
GO:0086092	Process	Regulation of the force of heart contraction by cardiac conduction	IEA
GO:0090279	Process	Regulation of calcium ion import	IEA
GO:0090281	Process	Negative regulation of calcium ion import	ISS	12032137
GO:0090534	Component	Calcium ion-transporting ATPase complex	IDA	19708671
GO:0141110	Function	Transporter inhibitor activity	IDA	19708671
GO:1901077	Process	Regulation of relaxation of muscle	IEA
GO:1901894	Process	Regulation of ATPase-coupled calcium transmembrane transporter activity	IDA	22427649
GO:1901895	Process	Negative regulation of ATPase-coupled calcium transmembrane transporter activity	IDA	28890335
GO:1901897	Process	Regulation of relaxation of cardiac muscle	IC	19708671
GO:1902081	Process	Negative regulation of calcium ion import into sarcoplasmic reticulum	IBA
GO:1902081	Process	Negative regulation of calcium ion import into sarcoplasmic reticulum	IDA	19708671
GO:1902081	Process	Negative regulation of calcium ion import into sarcoplasmic reticulum	IEA
GO:1902081	Process	Negative regulation of calcium ion import into sarcoplasmic reticulum	ISS	12032137
GO:1990629	Component	Phospholamban complex	IPI	16043693

Other IDs

• MIM: 172405
• HGNC: 9080
• e!Ensembl: ENSG00000198523

Protein

• UniProt ID: P26678
• Protein name: Phospholamban (PLB)
• Protein function: Reversibly inhibits the activity of ATP2A2/SERCA2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+) (PubMed:28890335). Binds preferentially to the ATP-bound E1 conformational form of ATP2A2 which pred
• PDB: 1PLP, 1ZLL, 2HYN, 6Y40, 7E0Z, 7E11, 7E12
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04272	Phospholamban	1 → 52	Phospholamban	Domain

• Tissue specificity: TISSUE SPECIFICITY: Heart muscle (at protein level). {ECO:0000269|PubMed:17241641}.
• Sequence:

  MEKVQYLTRSAIRRASTIEMPQQARQKLQNLFINFCLILICLLLICIIVMLL

• Sequence length: 52

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Arrhythmogenic right ventricular dysplasia 9	Pathogenic	rs397516784	RCV000491072	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiac arrest	Likely pathogenic; Pathogenic	rs111033560	RCV000157420	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Pathogenic; Likely pathogenic	rs111033559, rs111033560, rs397516784	RCV000769213 RCV000770226 RCV000183818	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs111033560, rs397516784	RCV000621703 RCV000244830	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1P	Pathogenic; Likely pathogenic	rs2114969441, rs2114970035, rs747947483, rs111033559, rs111033560, rs397516784, rs1779066083	RCV001385330 RCV002002359 RCV002736753 RCV000014606 RCV000014607 RCV000233546 RCV001209777	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs111033560	RCV000151666	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 18	Likely pathogenic; Pathogenic	rs794729138, rs111033560, rs397516784	RCV002288325 RCV000022712 RCV001197004	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrinsic cardiomyopathy	Likely pathogenic; Pathogenic	rs111033560	RCV003389232	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PLN-related cardiomyopathy	Pathogenic	rs397516784	RCV005646764	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PLN-related disorder	Likely pathogenic; Pathogenic	rs111033560	RCV005862714	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs111033559, rs111033560, rs397516784	RCV000211844 RCV000171826 RCV000037582	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sudden cardiac death	Likely pathogenic; Pathogenic	rs111033560	RCV000157419	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SUDDEN INFANT DEATH SYNDROME	Pathogenic	rs397516784	RCV001787831	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARRHYTHMIAS, CARDIAC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY	—	ClinGen, ClinVar, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1P	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	16339750, 23349452, 25923014, 28759816, 32911053, 33020536, 33928785, 34113975, 34516619, 37293707, 38403235	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	22820313, 23871674, 26917049, 31513489		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	22820313, 24732829, 26569459, 31513489, 32911053, 33221241, 33831308, 34752915, 35008484, 35700631, 35805951	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	10193721, 16027256, 30959203, 31185731, 31609246		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	24249718, 37293707	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcium Metabolism Disorders	Calcium metabolism disorders	Pubtator	33020536, 34496741	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37047251	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	25923014	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	CLINGEN_DG	10198197, 11171800, 12610310, 12639993, 12705874, 16432188, 17010801, 17655857, 17882530, 21167350, 22137083, 22820313, 27532257, 7641356, 8062415, 8428955, 8567978, 9468536		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	10951187, 12705874, 14530977, 16382369, 16432188, 16829191, 18241046, 21132354, 22820313, 24732829, 24909667, 25593317, 25923014, 25928149, 26917049, 26970417, 28365402, 28759816, 29119312, 29987817, 30118340, 30354299, 30763825, 31513489		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG	16432188, 22820313, 23785128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	16829191, 24732829, 25923014, 25928149, 26917049, 28759816, 31513489, 33020536, 33607378, 33928785, 34496741, 34767988, 34924461, 35247838, 37748331, 37967257, 38403235	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	16829191, 17010801, 19638213, 21282613, 22820313, 23308118, 23349452, 24732829, 25225809, 26569459, 26917049, 27450564, 29501609, 29752948, 31513489, 31751570, 31983221, 32911053, 33020536, 33221241, 33928785, 33998164, 34011823, 34583280, 34752915, 34924461, 35247838, 35728000, 36472615, 37408239, 37748331	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	34752915	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	21167350, 22515980, 27688314, 27841901, 29752948	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	10555147, 12639993, 16432188, 16829191, 17010801, 18056057, 18241046, 19139388, 19324307, 21282613, 22155237, 22427649, 23270881, 24732829, 25225809, 25563649, 25852082, 26917049, 29501609, 29752948, 29987817, 30638982, 8862513		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	12610310, 16432188, 16829191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	12610310, 16432188, 17010801, 18056057, 19139388, 19324307, 21282613, 22155237, 22427649, 22707725, 22820313, 23308118, 25593317, 25928149		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1P	Cardiomyopathy	UNIPROT_DG	12610310, 16432188, 22137083, 22427649, 22707725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1P	Cardiomyopathy	CLINVAR_DG	12639993, 16432188, 17655857, 21167350, 22155237, 22707725, 22820313, 23568436, 25611685, 26535225, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1P	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 27532257, 28102477, 30681346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1P	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 27532257, 28102477, 30681346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	16829191, 18241046, 19356507, 20079744, 22137083, 22155237, 22820313, 25225809, 25852082, 26569459, 26917049, 26970417, 27576561, 27936050, 29068413, 29501609, 29752948, 30794913, 31751570, 8689655, 8862513		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	12705874		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27470516, 29752948		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37798313	Associate	★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	14636244, 15338276, 28287132		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	37967257	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	17515962		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	LHGDN	17515962		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	10468529, 10555147, 11855657, 11864915, 12134142, 12610310, 12639993, 14732205, 14967726, 16210321, 16432188, 16893886, 18192322, 18241046, 19139388, 19638213, 2040039, 21510919, 22137083, 22405774, 22828502, 25563649, 25593317, 25923014, 26917049, 27811197, 27992596, 28352365, 28759816, 29068413, 29501609, 29635323, 30135432, 30638982, 30777430, 8689655, 9790566		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28903365		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28472932		★☆☆☆☆ Found in Text Mining only
Crisponi syndrome	Crisponi syndrome	Pubtator	33020536	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20484118		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20484118		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	24708792	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29059180		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	19882101, 20484118		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	Pubtator	37355664	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36702668	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	36702668	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	24835503	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30293466		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	12610310		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	19324307, 25775607, 30794913		★☆☆☆☆ Found in Text Mining only
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	25775607, 27450564, 33020536	Associate	★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty liver	Pubtator	24732829	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	BEFREE	11477065		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28472932	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22971924, 31513489, 33607378, 34516619, 37408239, 37958923	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	10468529, 10555147, 11855657, 11864915, 12134142, 12610310, 12639993, 14732205, 14967726, 16210321, 16432188, 16893886, 18192322, 18241046, 19139388, 19638213, 2040039, 21510919, 22137083, 22405774, 22828502, 25563649, 25593317, 25923014, 26917049, 27811197, 27992596, 28352365, 28759816, 29068413, 29501609, 29635323, 30135432, 30638982, 30777430, 8689655, 9790566		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	11864915, 16339750, 22405774, 22843448, 22971924, 24244723, 25923014, 26917049, 28759816, 29501609, 32911053, 33020536, 33998164, 34516619, 34924461, 37798313	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	LHGDN	12610310		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	18191736	Inhibit	★☆☆☆☆ Found in Text Mining only
Hibernation, Myocardial	Hibernation, Myocardial	CTD_human_DG	16317512		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	20079744		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	21558448, 29518186		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	12639993, 16235537, 17655857, 21167350, 21332051, 23861362		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12705874, 16382369, 21167350, 21332051, 22515980, 26917049, 27688314, 29875424		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	12705874		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12705874, 16382369, 21167350, 21332051, 26917049		★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	24793904		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22472319	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	20081107, 29251561		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	20081107		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	16339750	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	8689655, 8862513		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	23349452	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	Leopard syndrome	Pubtator	34496741	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17659056		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	3475136		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	24732829	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28939224		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	24634239	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	30118340		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	16026515, 16162791		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	26457413		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28903365		★☆☆☆☆ Found in Text Mining only
Myocardial Stunning	Myocardial Stunning	CTD_human_DG	16317512		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	8845717		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31783532		★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Distal hereditary motor neuropathy	Pubtator	34516619	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	37967257	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28939224		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	20081107	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26491260	Inhibit	★☆☆☆☆ Found in Text Mining only
Stunned Myocardium	Stunned Myocardium	CTD_human_DG	16317512		★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	34924461	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	24909667		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	17515962		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	17515962	Inhibit	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	23349452, 24909667, 25852082, 27576561, 28759816, 29635323		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	34516619	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Premature Complexes	Ventricular ectopy	Pubtator	33221241	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	25928149, 31513489	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	17515962		★☆☆☆☆ Found in Text Mining only