MYH6 (myosin heavy chain 6)

Gene

• Entrez ID: 4624
• Gene name: Myosin heavy chain 6
• Gene symbol: MYH6
• Synonyms (NCBI Gene): ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3, alpha-MHC
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the ge

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34330111	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs115845031	C>A,T	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant
rs140660481	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs142850511	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142992009	T>C,G	Benign, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs143048583	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs143978652	C>A,T	Likely-benign, uncertain-significance, likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144329079	G>A,C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs145508517	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147397431	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147606900	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199859986	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs200662317	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs267606903	A>T	Pathogenic	Coding sequence variant, missense variant
rs267606904	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs267606905	C>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs267606906	G>A	Pathogenic	Coding sequence variant, missense variant
rs374941865	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs377716628	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs387906656	G>A	Risk-factor	Coding sequence variant, missense variant
rs515726230	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs753444140	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs778808038	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs786205484	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs863225269	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1131691839	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1263987728	A>C	Pathogenic	Coding sequence variant, missense variant
rs1555334047	GGCCCGAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566513862	C>T	Pathogenic	Splice donor variant

Transcription factors

Transcription factor	Regulation	Reference
ELK3	Repression	12933792
JARID2	Unknown	18805276
TBX5	Unknown	15735645

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	IDA	15621050
GO:0000146	Function	Microfilament motor activity	IEA
GO:0000146	Function	Microfilament motor activity	IMP	16088376
GO:0000146	Function	Microfilament motor activity	ISS
GO:0000166	Function	Nucleotide binding	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001701	Process	In utero embryonic development	ISS
GO:0001725	Component	Stress fiber	IEA
GO:0002026	Process	Regulation of the force of heart contraction	IDA	15621050
GO:0002026	Process	Regulation of the force of heart contraction	IEA
GO:0002026	Process	Regulation of the force of heart contraction	ISS
GO:0002027	Process	Regulation of heart rate	IDA	15621050
GO:0002027	Process	Regulation of heart rate	IEA
GO:0003012	Process	Muscle system process	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005859	Component	Muscle myosin complex	TAS	1776652
GO:0006936	Process	Muscle contraction	IDA	15621050
GO:0006941	Process	Striated muscle contraction	IEA
GO:0006941	Process	Striated muscle contraction	IMP	15621050
GO:0006941	Process	Striated muscle contraction	ISS
GO:0007512	Process	Adult heart development	IEA
GO:0007512	Process	Adult heart development	IMP	15735645, 15998695
GO:0007522	Process	Visceral muscle development	IEA
GO:0007522	Process	Visceral muscle development	ISS
GO:0008016	Process	Regulation of heart contraction	IEA
GO:0008016	Process	Regulation of heart contraction	ISS
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	ISS
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	IEA
GO:0016459	Component	Myosin complex	IEA
GO:0016459	Component	Myosin complex	TAS	12933792
GO:0016460	Component	Myosin II complex	IBA
GO:0017018	Function	Myosin phosphatase activity	TAS
GO:0019901	Function	Protein kinase binding	IPI	18029400, 18429820
GO:0030016	Component	Myofibril	IEA
GO:0030016	Component	Myofibril	ISS
GO:0030017	Component	Sarcomere	TAS	12933792
GO:0030018	Component	Z disc	IEA
GO:0030048	Process	Actin filament-based movement	IEA
GO:0030049	Process	Muscle filament sliding	IMP	16088376
GO:0030049	Process	Muscle filament sliding	TAS
GO:0030239	Process	Myofibril assembly	IEA
GO:0030239	Process	Myofibril assembly	ISS
GO:0032982	Component	Myosin filament	IBA
GO:0032982	Component	Myosin filament	IEA
GO:0045214	Process	Sarcomere organization	IEA
GO:0045214	Process	Sarcomere organization	ISS
GO:0046034	Process	ATP metabolic process	IDA	15621050
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	IMP	15735645
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	11815426, 15998695
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0055013	Process	Cardiac muscle cell development	ISS
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060048	Process	Cardiac muscle contraction	ISS	9884344
GO:0060420	Process	Regulation of heart growth	IEA

Other IDs

• MIM: 160710
• HGNC: 7576
• e!Ensembl: ENSG00000197616

Protein

• UniProt ID: P13533
• Protein name: Myosin-6 (Myosin heavy chain 6) (Myosin heavy chain, cardiac muscle alpha isoform) (MyHC-alpha)
• Protein function: Muscle contraction.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02736	Myosin_N	34 → 73	Myosin N-terminal SH3-like domain	Domain
  PF00063	Myosin_head	87 → 768	Myosin head (motor domain)	Domain
  PF01576	Myosin_tail_1	845 → 1926	Myosin tail	Coiled-coil

• Sequence:

  MTDAQMADFGAAAQYLRKSEKERLEAQTRPFDIRTECFVPDDKEEFVKAKILSREGGKVI
  AETENGKTVTVKEDQVLQQNPPKFDKIEDMAMLTFLHEPAVLFNLKERYAAWMIYTYSGL
  FCVTVNPYKWLPVYNAEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGES
  GAGKTVNTKRVIQYFASIAAIGDRGKKDNANANKGTLEDQIIQANPALEAFGNAKTVRND
  NSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERNYHIFYQILSNKKPELLD
  MLLVTNNPYDYAFVSQGEVSVASIDDSEELMATDSAFDVLGFTSEEKAGVYKLTGAIMHY
  GNMKFKQKQREEQAEPDGTEDADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQSVQQ
  VYYSIGALAKAVYEKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCIN
  FTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECM
  FPKATDMTFKAKLYDNHLGKSNNFQKPRNIKGKQEAHFSLIHYAGTVDYNILGWLEKNKD
  PLNETVVALYQKSSLKLMATLFSSYATADTGDSGKSKGGKKKGSSFQTVSALHRENLNKL
  MTNLRTTHPHFVRCIIPNERKAPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDF
  RQRYRILNPVAIPEGQFIDSRKGTEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRD
  ERLSRIITRMQAQARGQLMRIEFKKIVERRDALLVIQWNIRAFMGVKNWPWMKLYFKIKP
  LLKSAETEKEMATMKEEFGRIKETLEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNL
  NDAEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKKDIDDLE
  LTLAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQVEEDKVN
  SLSKSKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKLQLEE
  KLKKKEFDINQQNSKIEDEQVLALQLQKKLKENQARIEELEEELEAERTARAKVEKLRSD
  LSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHAD
  SVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKVSRTLEDQANE
  YRVKLEEAQRSLNDFTTQRAKLQTENGELARQLEEKEALISQLTRGKLSYTQQMEDLKRQ
  LEEEGKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETD
  AIQRTEELEEAKKKLAQRLQDAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAA
  AAALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETF
  KRENKNLQEEISDLTEQLGEGGKNVHELEKVRKQLEVEKLELQSALEEAEASLEHEEGKI
  LRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHQRVVDSLQTSLDAETRSRNEVLRVKKKM
  EGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRN
  NLLQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMESDLTQLQ
  SEVEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLD
  EAEQIALKGGKKQLQKLEARVRELEGELEAEQKRNAESVKGMRKSERRIKELTYQTEEDK
  KNLLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVN
  KLRAKSRDIGAKQKMHDEE

• Sequence length: 1939

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
Atrial septal defect 3	Pathogenic	rs267606903	RCV000015211	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Likely pathogenic	rs778808038	RCV000852452	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1EE	Pathogenic	rs267606906	RCV000015213	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart, malformation of	Pathogenic	rs1566513862	RCV001836862	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 1	Pathogenic	rs863225269	RCV000201905	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 14	Pathogenic; Likely pathogenic	rs757201702, rs2502192999, rs2502153575, rs1566513862	RCV003153081 RCV003323324 RCV003630391 RCV003629132	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoplastic left heart syndrome	Likely pathogenic	rs2502193523	RCV003592049	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome	Likely pathogenic	rs1404787586	RCV003318434	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYH6-related disorder	Likely pathogenic; Pathogenic	rs1131691839, rs1566513862	RCV004722834 RCV005250089	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial dilated cardiomyopathy	Pathogenic	rs1263987728	RCV000624469	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOMALOUS ATRIOVENTRICULAR EXCITATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular dysplasia 9	Uncertain significance	ClinVar	★★☆☆☆ 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, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial septal defect	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AV Block Third Degree Adverse Event	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrest	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC CONDUCTION DEFECT, NONSPECIFIC	—	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, DILATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1EE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ 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, FAMILIAL HYPERTROPHIC, 14	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chest pain	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conduction disorder of the heart	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Conduction system disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL SICK SINUS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE, DIASTOLIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE, SYSTOLIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART SEPTAL DEFECTS, ATRIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemiplegia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic cardiomyopathy 2	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KEPPEN LUBINSKY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KEPPEN-LUBINSKY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYH6-related cardiac defects	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prolonged QT interval	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restrictive cardiomyopathy	Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SICK SINUS SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick sinus syndrome 3, susceptibility to	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VENTRICULAR REMODELING	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25859013		★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	BEFREE	29590334		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	31173076, 33949037, 35893073	Associate	★☆☆☆☆ Found in Text Mining only
Asymmetric Septal Hypertrophy	Septal Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	27390994	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	29050564, 29590334, 30061737, 34495297	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial fibrillation familial 1	Atrial fibrillation	Pubtator	39596649	Associate	★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	29969989		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defect 3	Atrial Septal Defect	UNIPROT_DG	15735645		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Septal Defect 3	Atrial Septal Defect	GENOMICS_ENGLAND_DG	15735645, 27532257, 28082330		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Septal Defect 3	Atrial Septal Defect	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Septal Defect 3	Atrial Septal Defect	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Septal Defect Sinus Venosus	Sinus venosus atrial septal defect	BEFREE	29969989		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defect Sinus Venosus	Atrial septal defect	Pubtator	29969989	Associate	★☆☆☆☆ Found in Text Mining only
Atrial septal defect, ostium secundum type	Atrial Septal Defect	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	BEFREE	15735645, 20656787, 22194935, 26284702, 29505555, 29536580, 29969989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	LHGDN	15735645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	CTD_human_DG	15735645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophy	Atrophy	Pubtator	22349865	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29969989		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	28991257, 29969989	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	39226896	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26407123		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36694223	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	36303204	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	29575536	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25643992		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26950368		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	20458009, 22194935, 26284702, 29969989, 32631246, 33478249, 34697898, 34946895, 35893073, 40004541	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	22194935, 25125183, 26265212, 27082122, 28096472, 29332214, 29969989, 30773991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	20215591, 20388650, 24119082, 26458567, 29969989, 33949037, 34011823, 34946895, 36129056	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	35893073	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	22429680, 27160240, 27483260, 29969989, 38006610, 39541768, 40004541	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	15998695		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG	15998695		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	26085007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1EE	Cardiomyopathy	UNIPROT_DG	15998695		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1EE	Cardiomyopathy	GENOMICS_ENGLAND_DG	27532257, 28082330		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1EE	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1EE	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	CLINVAR_DG	16858239, 20031618, 20173211, 20359594, 21302287, 21835320, 23674513		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 14	Cardiomyopathy	UNIPROT_DG	11815426, 15998695		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Hypertrophic, 14	Cardiomyopathy	GENOMICS_ENGLAND_DG	27532257, 28082330		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Hypertrophic, 14	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Hypertrophic, 14	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG	15998695		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26458567, 30246236, 30917606		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CTD_human_DG	11815426		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	28089740		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37798313	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37525251	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	21882064	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27756600, 29844196		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27044563		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	20656787, 26085007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	28991257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	29969989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	25799225, 29574918, 31286143, 31564129, 9410916		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coronary heart disease	Coronary Heart Disease	BEFREE	20656787, 27058611, 27789736, 28991257, 29332214, 29969989		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30564194		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	23696562		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	Pubtator	30246236	Associate	★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	36209093, 37322441	Associate	★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	15998695, 20215591		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	20215591, 29536580	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial sick sinus syndrome	Sick Sinus Syndrome	BEFREE	25717017		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial sick sinus syndrome	Sick Sinus Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	22011241, 22194935, 28991257, 29969989, 30061737, 36890431, 39226896	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	21245908, 27884156, 36721086	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart Diseases	BEFREE	31164718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	18191736	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	24119082, 27884156, 34697898, 35346191, 37798313, 9410910	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	25799225, 29574918, 31286143, 31564129, 9410916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Diastolic	Heart Failure	CTD_human_DG	29556499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	22194935, 22337856, 26284702, 29505555	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	36209093	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29635288		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	10388558, 11815426, 24309898, 27483260, 6234108		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	10606622, 24092743, 27160240, 30917606, 31424496		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	15998695		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	15998695, 29741611		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	15998695, 29741611		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	24092743		★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	24793904, 27789736, 36890431, 39596649	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	BEFREE	26085007, 27789736		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	24793904, 27789736		★☆☆☆☆ Found in Text Mining only
Idiopathic hypertrophic subaortic stenosis	Hypertrophic Subaortic Stenosis	CTD_human_DG	11815426		★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	29536580		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25703929		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	26284702, 36303204	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of breast	Breast Cancer	BEFREE	26407123		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25643992		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26950368		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17071605, 19787211, 19855435, 20353999, 26324058, 29187741		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	26324058		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17071605, 31744880		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26324058		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microvascular Angina	Microvascular angina	Pubtator	29590334	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27756600		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	21436590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	11114175, 15741996, 19181095, 24193343, 25125183		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31692905		★☆☆☆☆ 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	11114175		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29635288		★☆☆☆☆ Found in Text Mining only
Obstructive asymmetric septal hypertrophy	Obstructive Asymmetric Septal Hypertrophy	CTD_human_DG	11815426		★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	CTD_human_DG	15735645		★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	ORPHANET_DG	15735645		★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26950368		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★☆☆☆☆ Found in Text Mining only
Persistent Ostium Primum	Persistent Ostium Primum	CTD_human_DG	15735645		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17071605, 19787211, 19855435, 20353999, 26324058		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	27764816	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	19443534	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	15123708, 15829536, 26209396, 31103816		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Shone complex	Shone Complex	GENOMICS_ENGLAND_DG	15735645		★☆☆☆☆ Found in Text Mining only
Shone complex	Shone Complex	BEFREE	28991257		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	BEFREE	21378987, 25717017, 26284702		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick Sinus Syndrome	CTD_human_DG	21378987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick Sinus Syndrome	GWASDB_DG	21378987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	21378987, 26284702, 29590334, 33580673	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick Sinus Syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	CTD_human_DG	21378987		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33530209, 39757032	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27708434	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	35544069	Associate	★☆☆☆☆ Found in Text Mining only
Subaortic stenosis	Subaortic Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid atresia	Pubtator	22337856	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Right	Ventricular dysfunction	Pubtator	39596649	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	24119082, 33949037	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ventricular Remodeling	Ventricular remodeling	Pubtator	27135274	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	BEFREE	26284702		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations