CAV3 (caveolin 3)

Gene

• Entrez ID: 859
• Gene name: Caveolin 3
• Gene symbol: CAV3
• Synonyms (NCBI Gene): LGMD1C, LQT9, MPDT, RMD2, VIP-21, VIP21
• Chromosome: 3
• Chromosome location: 3p25.3
• Summary: This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting m

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT864581	hsa-miR-3187-3p	CLIP-seq
MIRT864582	hsa-miR-3188	CLIP-seq
MIRT864583	hsa-miR-3926	CLIP-seq
MIRT864584	hsa-miR-412	CLIP-seq
MIRT864585	hsa-miR-4269	CLIP-seq
MIRT864586	hsa-miR-4433	CLIP-seq
MIRT864587	hsa-miR-4435	CLIP-seq
MIRT864588	hsa-miR-4480	CLIP-seq
MIRT864589	hsa-miR-4514	CLIP-seq
MIRT864590	hsa-miR-4692	CLIP-seq
MIRT864591	hsa-miR-4701-5p	CLIP-seq
MIRT864592	hsa-miR-4742-5p	CLIP-seq
MIRT864593	hsa-miR-548s	CLIP-seq
MIRT864594	hsa-miR-588	CLIP-seq
MIRT864595	hsa-miR-3185	CLIP-seq
MIRT864596	hsa-miR-3611	CLIP-seq
MIRT864597	hsa-miR-4530	CLIP-seq
MIRT864595	hsa-miR-3185	CLIP-seq
MIRT864596	hsa-miR-3611	CLIP-seq
MIRT864597	hsa-miR-4530	CLIP-seq
MIRT864595	hsa-miR-3185	CLIP-seq
MIRT864596	hsa-miR-3611	CLIP-seq
MIRT864597	hsa-miR-4530	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000165	Process	MAPK cascade	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001778	Process	Plasma membrane repair	IEA
GO:0002027	Process	Regulation of heart rate	IMP	17060380
GO:0002931	Process	Response to ischemia	IEA
GO:0003300	Process	Cardiac muscle hypertrophy	IEA
GO:0005246	Function	Calcium channel regulator activity	IDA	21084288
GO:0005515	Function	Protein binding	IPI	10988290, 19726876, 24567387, 25556234, 26497963, 28514442, 32296183, 32814053, 33961781
GO:0005783	Component	Endoplasmic reticulum	IDA	22792322
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IDA	17060380, 20472890
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	IEA
GO:0005901	Component	Caveola	ISS
GO:0005925	Component	Focal adhesion	IBA
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	ISS
GO:0006816	Process	Calcium ion transport	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006897	Process	Endocytosis	ISS
GO:0007009	Process	Plasma membrane organization	IEA
GO:0007009	Process	Plasma membrane organization	ISS
GO:0007015	Process	Actin filament organization	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	ISS
GO:0007517	Process	Muscle organ development	TAS	10988290
GO:0007520	Process	Myoblast fusion	IEA
GO:0008016	Process	Regulation of heart contraction	IMP	17275750
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008104	Process	Intracellular protein localization	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	IMP	12847114
GO:0010831	Process	Positive regulation of myotube differentiation	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0014819	Process	Regulation of skeletal muscle contraction	IMP	17524427
GO:0014902	Process	Myotube differentiation	IEA
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IDA	10988290
GO:0016020	Component	Membrane	IEA
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0017080	Function	Sodium channel regulator activity	IDA	17060380
GO:0017080	Function	Sodium channel regulator activity	IMP	17275750
GO:0019870	Function	Potassium channel inhibitor activity	IEA
GO:0019870	Function	Potassium channel inhibitor activity	ISS	22879586
GO:0019899	Function	Enzyme binding	IEA
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	ISS
GO:0031116	Process	Positive regulation of microtubule polymerization	IEA
GO:0031116	Process	Positive regulation of microtubule polymerization	ISS
GO:0031122	Process	Cytoplasmic microtubule organization	IEA
GO:0031579	Process	Membrane raft organization	IEA
GO:0031579	Process	Membrane raft organization	ISS
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031594	Component	Neuromuscular junction	ISS
GO:0031982	Component	Vesicle	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033292	Process	T-tubule organization	TAS	12847114
GO:0035995	Process	Detection of muscle stretch	IEA
GO:0035995	Process	Detection of muscle stretch	ISS
GO:0038009	Process	Regulation of signal transduction by receptor internalization	IMP	20472890
GO:0042383	Component	Sarcolemma	IDA	12847114, 17060380
GO:0042383	Component	Sarcolemma	IEA
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0042391	Process	Regulation of membrane potential	IDA	21084288
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0043014	Function	Alpha-tubulin binding	IEA
GO:0043409	Process	Negative regulation of MAPK cascade	IEA
GO:0043409	Process	Negative regulation of MAPK cascade	IMP	12847114
GO:0043409	Process	Negative regulation of MAPK cascade	ISS
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	17060380, 21084288
GO:0044877	Function	Protein-containing complex binding	IDA	10988290
GO:0045121	Component	Membrane raft	IEA
GO:0045121	Component	Membrane raft	ISS
GO:0045792	Process	Negative regulation of cell size	IMP	12847114
GO:0050998	Function	Nitric-oxide synthase binding	IEA
GO:0051394	Process	Regulation of nerve growth factor receptor activity	IMP	20472890
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IBA
GO:0051647	Process	Nucleus localization	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051924	Process	Regulation of calcium ion transport	IEA
GO:0051926	Process	Negative regulation of calcium ion transport	IDA	21084288
GO:0051926	Process	Negative regulation of calcium ion transport	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0055117	Process	Regulation of cardiac muscle contraction	IMP	17275750
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0060090	Function	Molecular adaptor activity	IPI	17060380
GO:0060299	Process	Negative regulation of sarcomere organization	IMP	12847114
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	17060380
GO:0060347	Process	Heart trabecula formation	IEA
GO:0060373	Process	Regulation of ventricular cardiac muscle cell membrane depolarization	IDA	17060380
GO:0060762	Process	Regulation of branching involved in mammary gland duct morphogenesis	IEA
GO:0061052	Process	Negative regulation of cell growth involved in cardiac muscle cell development	IEA
GO:0070836	Process	Caveola assembly	IBA
GO:0070836	Process	Caveola assembly	IDA	18936328
GO:0070836	Process	Caveola assembly	IEA
GO:0070836	Process	Caveola assembly	IEA
GO:0071253	Function	Connexin binding	IDA	19544087
GO:0071253	Function	Connexin binding	IEA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	ISS
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IEA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	ISS	22879586
GO:0090279	Process	Regulation of calcium ion import	IDA	21084288
GO:0098909	Process	Regulation of cardiac muscle cell action potential involved in regulation of contraction	IMP	17060380
GO:1900744	Process	Regulation of p38MAPK cascade	IEA
GO:1900825	Process	Regulation of membrane depolarization during cardiac muscle cell action potential	IMP	17275750
GO:1900826	Process	Negative regulation of membrane depolarization during cardiac muscle cell action potential	IEA
GO:1901380	Process	Negative regulation of potassium ion transmembrane transport	IEA
GO:1901380	Process	Negative regulation of potassium ion transmembrane transport	ISS	22879586
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IDA	17060380, 17275750
GO:1904637	Process	Cellular response to ionomycin	IEA
GO:2000009	Process	Negative regulation of protein localization to cell surface	NAS	22879586
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	NAS	22879586
GO:2001288	Process	Positive regulation of caveolin-mediated endocytosis	IEA

Other IDs

• MIM: 601253
• HGNC: 1529
• e!Ensembl: ENSG00000182533

Protein

• UniProt ID: P56539
• Protein name: Caveolin-3 (M-caveolin)
• Protein function: May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01146	Caveolin	15 → 148	Caveolin	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed predominantly in muscle. {ECO:0000269|PubMed:9545514}.
• Sequence:

  MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAEPVGTYSFDGVWKV
  SYTTFTVSKYWCYRLLSTLLGVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHI
  YSLCIRTFCNPLFAALGQVCSSIKVVLRKEV

• Sequence length: 151

Pathways

KEGG:

Endocytosis
Focal adhesion
Prion disease
Bacterial invasion of epithelial cells
Proteoglycans in cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis
Fluid shear stress and atherosclerosis

Reactome:

Smooth Muscle Contraction

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
Abnormality of the musculature	Likely pathogenic	rs2124988278	RCV001814536	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs116840789	RCV002381245	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CAV3-related disorder	Likely pathogenic	rs116840796	RCV003398568	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal myopathy, Tateyama type	Pathogenic; Likely pathogenic	rs1008642, rs116840787, rs1708139265	RCV000008786 RCV002496441 RCV001249608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Elevated circulating creatine kinase concentration	Likely pathogenic; Pathogenic	rs116840789, rs116840787, rs1708139265	RCV000008774 RCV002496441 RCV001249608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 1	Pathogenic; Likely pathogenic	rs116840787, rs1708139265	RCV002496441 RCV001249608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome	Likely pathogenic; Pathogenic	rs2124988406, rs796052171, rs116840805, rs116840789, rs1008642, rs2470062110, rs2470062381, rs199476324, rs116840787	RCV001806710 RCV000190168 RCV005089211 RCV001384920 RCV001212042 RCV003531781 RCV003648589 RCV002513227 RCV001238633 RCV000539792 RCV001050053	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT syndrome 9	Pathogenic; Likely pathogenic	rs104893713, rs104893715, rs121909281, rs116840787, rs1708139265	RCV000008788 RCV000008792 RCV000008793 RCV002496441 RCV001249608	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy with tubular aggregates	Likely pathogenic; Pathogenic	rs116840789	RCV004585993	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rippling muscle disease 2	Pathogenic; Likely pathogenic	rs116840805, rs199476331, rs116840782, rs116840789, rs116840773, rs1559654264, rs116840787, rs1708139265	RCV000008765 RCV000008767 RCV000008770 RCV000008772 RCV000008775 RCV003990627 RCV002496441 RCV001249608	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1C	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Caveolinopathy	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 3, MONOSOMY 3P25	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital long QT syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREATINE PHOSPHOKINASE, ELEVATED SERUM	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Joubert syndrome 9	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Limb-girdle muscular dystrophy	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-Girdle Muscular Dystrophy, Dominant	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome 1	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome 2/9, digenic	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome 9, acquired, susceptibility to	risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIPPLING MUSCLE DISEASE	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIPPLING MUSCLE DISEASE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rippling muscle disease 2, autosomal recessive	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIPPLING MUSCLE DISEASE, 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROMANO-WARD SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUDDEN INFANT DEATH SYNDROME	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tip-toe gait	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBULAR AGGREGATE MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10850412		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10850412		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	29326130	Associate	★☆☆☆☆ Found in Text Mining only
Asymmetric Septal Hypertrophy	Septal Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28420984, 31597508		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	30707892		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36790286	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	36790286	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	12966035, 19773168, 22581547, 26497963, 26947586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	18793348	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	27483260	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	UNIPROT_DG	14672715		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	14672715		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	14672715		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19380584		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10850412		★☆☆☆☆ Found in Text Mining only
Chromosome 3, monosomy 3p25	Monosomy 3p25	CTD_human_DG	21082655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Soft Palate	Cleft palate	Pubtator	26597319	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	21082655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	17060380, 19351512, 21496630, 30588629		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	17303423		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28420984, 28498861, 29101175, 30028203, 30786093		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	29557990	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	29557990	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	25779609, 31583053		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25779609, 31583053		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28923309, 31572504		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	25779609		★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	11805270, 12557291, 14663034, 26947586, 27312022		★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	LHGDN	11805270, 12939441, 14981167		★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	27312022	Associate	★☆☆☆☆ Found in Text Mining only
Distal myopathy, Tateyama type	Distal Myopathy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28807458		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	31244760		★☆☆☆☆ Found in Text Mining only
Extraocular Muscle Paresis	Extraocular Muscle Paresis	BEFREE	17537631		★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	30174172		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	19584897, 21496630, 28898996, 29486470		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28420984, 28498861, 29101175, 30028203, 30786093		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29130958, 31583053		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31597508		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	14645200, 14672715, 19584897, 21496630		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	14645200, 19584897, 21496630		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21082655		★☆☆☆☆ Found in Text Mining only
Isolated asymptomatic elevation of creatine phosphokinase	Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Orphanet			★☆☆☆☆ Found in Text Mining only
Lipodystrophy Congenital Generalized	Lipodystrophy	Pubtator	32349771	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	CLINVAR_DG	10746614, 11431690, 11756609, 11805270, 12666119, 12807393, 12939441, 14633633, 15099591, 15318349, 15580566, 15668980, 18583131, 18930476, 19380584, 20472890, 21404291, 22581547, 27772553		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long QT Syndrome	BEFREE	17060380, 17210839, 17275750, 20809527, 23541953, 23640888, 24021552, 28648120, 30588629		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long qt syndrome	Pubtator	17275750, 19029296, 20809527, 28648120, 29326130, 30079003, 30588629	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LONG QT SYNDROME 2/9, DIGENIC	LONG QT SYNDROME DIGENIC	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long Qt Syndrome 9	Long qt syndrome	Pubtator	30588629	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LONG QT SYNDROME 9 (disorder)	Long QT Syndrome	UNIPROT_DG	17060380, 17275750		★☆☆☆☆ Found in Text Mining only
LONG QT SYNDROME 9 (disorder)	Long QT Syndrome	BEFREE	19351512, 23541953, 23640888, 30473666		★☆☆☆☆ Found in Text Mining only
LONG QT SYNDROME 9 (disorder)	Long QT Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
LONG QT SYNDROME 9 (disorder)	Long QT Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
LONG QT SYNDROME 9 (disorder)	Long QT Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Long QT syndrome type 3	Long qt syndrome	Pubtator	17275750	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	10850412		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	10850412		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19164602		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	35243582	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	21082655		★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	35468848	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36790286	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	10386585, 10464299, 10746614, 11001938, 11251997, 11259414, 11597517, 12557291, 12939441, 12966035, 14645200, 14672715, 15580566, 16730439, 17039257, 18509671, 18583131, 19584897, 21496630, 22581547, 25630502, 26947586, 9537420		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	CTD_human_DG	12847114		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	LHGDN	14981167		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	11001938, 11597517, 17303423, 18509671, 20652576, 22584670, 30174172, 9536092		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	LHGDN	12387816		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	31036801	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	22245016	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	11597517, 12966035		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C	Limb-Girdle Muscular Dystrophy	BEFREE	10746614, 11431690, 11532985, 12666119, 14645200, 14663034, 15564037, 21412170, 27312022, 30958599		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C	Limb-Girdle Muscular Dystrophy	CTD_human_DG	30055862		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	BEFREE	14673575		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	21295981, 27863830		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	30734484	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29486470		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	11805270, 12666119, 16458928, 18930476, 19546242, 19584897, 20472890, 21496630, 24021552, 24024685, 28807458, 30723005, 31036801		★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, TATEYAMA TYPE	Distal myopathy	ORPHANET_DG	11805270, 18930476		★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, TATEYAMA TYPE	Distal myopathy	UNIPROT_DG	11805270, 15580566		★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, TATEYAMA TYPE	Distal myopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, TATEYAMA TYPE	Distal myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, TATEYAMA TYPE	Distal myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonia	Myotonia	Pubtator	15314133, 27312022	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26086601, 9628820		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	18253147, 19773168, 25630502		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	27312022	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	29603301		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30430352		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	28420984		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	20472890, 30946560		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	20472890, 30946560		★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	27312022	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	26086601		★☆☆☆☆ Found in Text Mining only
Rippling muscle disease	Rippling Muscle Disease	BEFREE	11431690, 11756609, 12269726, 12557291, 12666119, 12807393, 14663034, 15314133, 15318349, 15564037, 15742369, 16247063, 16458928, 16723230, 16730439, 17405141, 17524427, 17537631, 19773168, 20229577, 21294223, 21295981, 22245016, 26947586, 27312022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rippling muscle disease	Rippling Muscle Disease	CTD_human_DG	11431690, 15668980, 16247063, 21294223, 30055862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rippling muscle disease	Rippling Muscle Disease	ORPHANET_DG	12557291, 15668980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rippling muscle disease	Rippling Muscle Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rippling muscle disease	Rippling Muscle Disease	CLINVAR_DG	12666119, 15668980, 19697367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIPPLING MUSCLE DISEASE 1	Rippling muscle disease	BEFREE	10850412		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIPPLING MUSCLE DISEASE 1	Rippling muscle disease	CTD_human_DG	11431690, 15668980, 16247063, 21294223, 30055862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rippling muscle disease 1	Rippling muscle disease	Pubtator	15314133, 21294223, 22245016, 27312022, 36522170	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIPPLING MUSCLE DISEASE 2 (disorder)	Rippling muscle disease	CLINVAR_DG	10746614, 11431690, 11756609, 11805270, 12807393, 12839838, 12939441, 14633633, 15318349, 15580566, 18930476, 19380584, 20472890, 21404291, 27854218		★☆☆☆☆ Found in Text Mining only
RIPPLING MUSCLE DISEASE 2 (disorder)	Rippling muscle disease	UNIPROT_DG	11001938, 11431690, 11532985, 11756609, 12557291, 12666119, 12939441, 15564037, 15580566, 15668980, 16458928, 9537420		★☆☆☆☆ Found in Text Mining only
RIPPLING MUSCLE DISEASE 2 (disorder)	Rippling muscle disease	CTD_human_DG	11431690, 15668980, 16247063, 21294223, 30055862		★☆☆☆☆ Found in Text Mining only
RIPPLING MUSCLE DISEASE 2 (disorder)	Rippling muscle disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Romano-Ward syndrome	Romano-Ward Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward Syndrome	Romano-Ward Syndrome	ORPHANET_DG	24093767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Subaortic stenosis	Subaortic Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	21295981		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Torsades de Pointes	Torsades de Pointes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary Bladder Diseases	BEFREE	30707892		★☆☆☆☆ Found in Text Mining only
Usher syndrome type 1C	Usher syndrome	Pubtator	11786420	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	29326130		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	HPO_DG			★☆☆☆☆ Found in Text Mining only