TNNT2 (troponin T2, cardiac type)

Gene

• Entrez ID: 7139
• Gene name: Troponin T2, cardiac type
• Gene symbol: TNNT2
• Synonyms (NCBI Gene): CMD1D, CMH2, CMPD2, LVNC6, RCM3, TnTC, cTnT
• Chromosome: 1
• Chromosome location: 1q32.1
• Summary: The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs45466197	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs45501500	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs45520032	A>G	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs45525839	G>A,C,T	Likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs45578238	CTT>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, inframe deletion
rs45586240	G>A,T	Likely-pathogenic, uncertain-significance, likely-benign, pathogenic	Coding sequence variant, synonymous variant, missense variant
rs74315379	G>A,T	Likely-benign, benign, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs74315380	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111344408	C>A,G	Likely-pathogenic, uncertain-significance	Splice acceptor variant
rs111377893	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs111692981	T>A,C,G	Uncertain-significance, pathogenic	Splice acceptor variant
rs113051005	C>A,G,T	Likely-pathogenic	Splice donor variant
rs113471285	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs113984578	A>C,T	Likely-pathogenic	Splice donor variant
rs121964855	A>T	Pathogenic	Missense variant, coding sequence variant
rs121964856	C>A,T	Likely-pathogenic, pathogenic	Missense variant, intron variant, coding sequence variant
rs121964857	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121964858	A>C,G,T	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, intron variant, coding sequence variant
rs121964860	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121964861	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs141121678	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs141805127	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs141837529	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, initiator codon variant
rs193922620	C>G,T	Uncertain-significance, likely-pathogenic	Intron variant
rs200754249	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic, benign-likely-benign	Missense variant, coding sequence variant, 5 prime UTR variant
rs201753429	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs369181536	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs370729174	T>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant, 5 prime UTR variant
rs376923877	G>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs397516451	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516452	C>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516454	A>C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516455	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397516456	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant, intron variant
rs397516457	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs397516459	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant, intron variant
rs397516461	C>T	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs397516463	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516464	C>G,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516465	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516466	C>T	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516470	CTC>-	Pathogenic	Coding sequence variant, inframe deletion
rs397516471	C>A,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516480	AAG>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397516482	T>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516484	C>G,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs483352832	G>A	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503512	G>A,C,T	Uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, missense variant
rs727503513	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, intron variant
rs727504244	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727504245	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs727504246	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504247	C>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs727504255	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504277	TCC>-	Likely-pathogenic	Coding sequence variant, inframe deletion, intron variant
rs727504331	A>C,G	Likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant, missense variant, intron variant
rs727504488	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727505233	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730881096	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730881097	C>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730881099	C>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant, intron variant
rs730881100	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730881101	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730881102	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730881104	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730881109	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730881112	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730881113	C>G,T	Uncertain-significance, likely-pathogenic	Intron variant
rs730881114	C>A	Pathogenic	Splice acceptor variant
rs730881115	G>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs730881116	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs730881119	->G	Pathogenic	Coding sequence variant, frameshift variant
rs730881121	G>A	Pathogenic	Coding sequence variant, missense variant
rs730881122	T>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs730881125	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs748970759	G>A,T	Uncertain-significance, likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs780087395	->C	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs863225119	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs863225120	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs869312881	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs876658027	GA>AC	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1085307889	C>T	Likely-pathogenic	Splice acceptor variant
rs1228403814	T>C	Likely-pathogenic	5 prime UTR variant, initiator codon variant, missense variant
rs1289914935	C>A,T	Likely-pathogenic	5 prime UTR variant, initiator codon variant, missense variant
rs1553279294	T>C	Pathogenic	Coding sequence variant, missense variant
rs1558225569	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1571608729	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1571627006	C>G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1571627587	TCATTC>-	Pathogenic	Coding sequence variant, inframe deletion, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018337	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IDA	2530435, 12093807
GO:0003779	Function	Actin binding	IDA	8205619
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005523	Function	Tropomyosin binding	IBA
GO:0005523	Function	Tropomyosin binding	IDA	10850966
GO:0005523	Function	Tropomyosin binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005861	Component	Troponin complex	IBA
GO:0005861	Component	Troponin complex	IDA	2530435, 12093807, 12186860
GO:0005861	Component	Troponin complex	IEA
GO:0005865	Component	Striated muscle thin filament	IDA	12186860
GO:0006937	Process	Regulation of muscle contraction	IEA
GO:0006941	Process	Striated muscle contraction	IEA
GO:0008016	Process	Regulation of heart contraction	IMP	15542288
GO:0030017	Component	Sarcomere	NAS	12840750
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0030049	Process	Muscle filament sliding	IDA	12186860, 15923195
GO:0030049	Process	Muscle filament sliding	NAS	12840750
GO:0030172	Function	Troponin C binding	IBA
GO:0030172	Function	Troponin C binding	IEA
GO:0030172	Function	Troponin C binding	IPI	8205619, 15542288
GO:0031013	Function	Troponin I binding	IBA
GO:0031013	Function	Troponin I binding	IEA
GO:0031013	Function	Troponin I binding	IPI	15542288
GO:0032780	Process	Negative regulation of ATP-dependent activity	IDA	10850966, 12093807
GO:0032781	Process	Positive regulation of ATP-dependent activity	IDA	10850966, 12186860
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0045214	Process	Sarcomere organization	IBA
GO:0051592	Process	Response to calcium ion	IDA	2530435
GO:0051592	Process	Response to calcium ion	IMP	8205619
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	16754800
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IDA	25771144
GO:0060048	Process	Cardiac muscle contraction	NAS	12840750
GO:0097512	Component	Cardiac myofibril	IDA	25771144
GO:1990584	Component	Cardiac Troponin complex	IDA	25771144
GO:1990584	Component	Cardiac Troponin complex	IPI	12840750

Other IDs

• MIM: 191045
• HGNC: 11949
• e!Ensembl: ENSG00000118194

Protein

• UniProt ID: P45379
• Protein name: Troponin T, cardiac muscle (TnTc) (Cardiac muscle troponin T) (cTnT)
• Protein function: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
• PDB: 1J1D, 1J1E, 4Y99, 6KN7, 6KN8, 7UTI, 7UTL, 8FMM, 8FMN, 8FMO, 8FMP, 8FMQ, 8FMR, 8FMS, 8FMT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00992	Troponin	103 → 241	Troponin	Family
  PF00992	Troponin	235 → 295	Troponin	Family

• Tissue specificity: TISSUE SPECIFICITY: Heart. The fetal heart shows a greater expression in the atrium than in the ventricle, while the adult heart shows a greater expression in the ventricle than in the atrium. Isoform 6 predominates in normal adult heart. Isoforms 1, 7 an
• Sequence:

  MSDIEEVVEEYEEEEQEEAAVEEEEDWREDEDEQEEAAEEDAEAEAETEETRAEEDEEEE
  EAKEAEDGPMEESKPKPRSFMPNLVPPKIPDGERVDFDDIHRKRMEKDLNELQALIEAHF
  ENRKKEEEELVSLKDRIERRRAERAEQQRIRNEREKERQNRLAEERARREEEENRRKAED
  EARKKKALSNMMHFGGYIQKQAQTERKSGKRQTEREKKKKILAERRKVLAIDHLNEDQLR
  EKAKELWQSIYNLEAEKFDLQEKFKQQKYEINVLRNRINDNQKVSKTRGKAKVTGRWK

• Sequence length: 298

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
Cardiomyopathy	Likely pathogenic; Pathogenic	rs727504247, rs727504331, rs730881116, rs730881119, rs121964855, rs121964858, rs74315379, rs397516456, rs397516457, rs397516463, rs45578238, rs111377893	RCV001170984 RCV003531982 RCV005401346 RCV000159334 RCV001171170 RCV001804727 RCV001375512 RCV003486557 RCV005401295 RCV001187129 RCV001798105 RCV001798106	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiomyopathy, familial restrictive, 3	Likely pathogenic; Pathogenic	rs1659515084, rs2102262330, rs727504247, rs727504277, rs727504255, rs111377893, rs727504246, rs727504331, rs727503513, rs730881116, rs730881098, rs2527024893, rs397516459, rs397516465, rs727503512, rs121964855, rs121964856, rs121964858, rs74315379, rs74315380, rs397516456, rs377157235, rs397516455, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs746297911	RCV001987101 RCV005227563 RCV000627785 RCV003388923 RCV003453155 RCV001850074 RCV000471745 RCV003764947 RCV000533469 RCV000646064 RCV001385847 RCV005219688 RCV002651393 RCV003014581 RCV003046468 RCV000474826 RCV000013219 RCV000627784 RCV003450627 RCV000524542 RCV000524541 RCV003805600 RCV000541251 RCV000556483 RCV000474512 RCV000230630 RCV000468546 RCV000468121 RCV001042219 RCV000534598 RCV002513390 RCV000459834 RCV000233887 RCV000524543 RCV001233169 RCV000807862	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs727504247, rs376923877, rs727504246, rs727503513, rs730881116, rs111377893, rs727503512, rs121964855, rs121964856, rs74315379, rs74315380, rs397516455, rs397516456, rs397516457, rs397516463, rs397516470, rs397516471, rs45578238, rs1659262013	RCV002444634 RCV002408685 RCV000617860 RCV000619541 RCV000586854 RCV004019928 RCV002338676 RCV000243910 RCV000621709 RCV004991970 RCV000588329 RCV000618563 RCV000620701 RCV000619351 RCV000619398 RCV000243733 RCV000620577 RCV002336123 RCV000247384 RCV002426558 RCV005400758	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1D	Likely pathogenic; Pathogenic	rs1659515084, rs2102262330, rs1558243381, rs727504247, rs727504255, rs111377893, rs727504246, rs727504331, rs727503513, rs730881116, rs730881098, rs2527024893, rs397516459, rs397516465, rs727503512, rs121964855, rs121964856, rs121964858, rs74315379, rs74315380, rs121964860, rs1659270426, rs397516456, rs377157235, rs397516455, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs746297911	RCV001987101 RCV005227563 RCV002466289 RCV000627785 RCV003453154 RCV001850074 RCV000471745 RCV003453158 RCV000533469 RCV000646064 RCV001385847 RCV005219688 RCV002651393 RCV003014581 RCV003046468 RCV000474826 RCV000013218 RCV000627784 RCV000709767 RCV000013225 RCV000013226 RCV000013228 RCV003333432 RCV003805600 RCV000541251 RCV000556483 RCV000474512 RCV000230630 RCV000468546 RCV000468121 RCV001042219 RCV000534598 RCV002513390 RCV000459834 RCV000233887 RCV000036607 RCV001233169 RCV000807862 RCV000853212	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial isolated dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs74315379	RCV000710045	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs1659515084, rs727504247, rs376923877, rs727504277, rs727504255, rs111377893, rs727504246, rs727504331, rs730881116, rs730881122, rs121964855, rs121964856, rs121964858, rs74315379, rs1553279294, rs397516455, rs397516456, rs397516457, rs397516463, rs397516470	RCV004764976 RCV000824774 RCV000154493 RCV000154282 RCV000154228 RCV000152095 RCV000154216 RCV000824804 RCV000606000 RCV000768492 RCV000211864 RCV000211865 RCV004802934 RCV000211866 RCV004764931 RCV000036571 RCV000768491 RCV000036575 RCV000036576 RCV000036583 RCV000211867 RCV000036621	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy 2	Likely pathogenic; Pathogenic	rs1659515084, rs2102262330, rs727504247, rs727504255, rs111377893, rs727504246, rs727504331, rs727503513, rs730881116, rs730881098, rs2527024893, rs863225120, rs397516459, rs397516465, rs727503512, rs2526953654, rs121964855, rs121964856, rs121964858, rs74315379, rs74315380, rs397516456, rs377157235, rs397516455, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs746297911	RCV001987101 RCV002273196 RCV000154218 RCV003453153 RCV001850074 RCV000471745 RCV003764947 RCV000533469 RCV000646064 RCV001385847 RCV005219688 RCV002651393 RCV000201435 RCV003014581 RCV003046468 RCV000474826 RCV003153195 RCV003225686 RCV000013217 RCV000013220 RCV000013223 RCV000524542 RCV000524541 RCV003805600 RCV000541251 RCV000556483 RCV000474512 RCV000230630 RCV000468546 RCV000468121 RCV001042219 RCV000534598 RCV002513390 RCV000459834 RCV000233887 RCV000524543 RCV001233169 RCV000807862	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs111377893	RCV005888566	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs727503512, rs876658027, rs2526941929, rs1658734768, rs74315379, rs74315380, rs397516454, rs397516461, rs397516464, rs45525839, rs397516471, rs45578238	RCV000223622 RCV000220636 RCV003233296 RCV003233307 RCV000157537 RCV000030567 RCV000036570 RCV000036581 RCV000036585 RCV000036586 RCV000036587 RCV000036597 RCV000211868 RCV000825476	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary familial dilated cardiomyopathy	Likely pathogenic	rs1571627006	RCV000845448	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs727504331, rs727503513, rs397516456, rs1571627587	RCV000211744 RCV001193334 RCV000208103 RCV000845505	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Restrictive cardiomyopathy	Likely pathogenic; Pathogenic	rs727503513	RCV000152104	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TNNT2-related disorder	Pathogenic; Likely pathogenic	rs397516464, rs45578238	RCV004541100 RCV004737177	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1D	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1DD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	—	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 DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Costello syndrome	Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1DD	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1S	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TYPE 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial restrictive cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE TYPE II	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART INJURIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 1	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 4	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 7	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypokinetic non-dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Increased left ventricular wall thickness	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular hypertrophy	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Uncertain significance	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocarditis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NECROSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC KERATOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden cardiac death	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden unexplained death	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Supraventricular tachycardia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	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
Acute Coronary Syndrome	Coronary Syndrome	CTD_human_DG	15966572		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	25918054		★☆☆☆☆ Found in Text Mining only
Adult Glycogen Storage Disease Type II	Glycogen Storage Disease	CTD_human_DG	26787432		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	20124440		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	32098556	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	15950076		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	34732054	Associate	★☆☆☆☆ Found in Text Mining only
Barth Syndrome	Barth syndrome	Pubtator	40555742	Inhibit	★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	32969603	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	20840783	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	12952912, 18651846, 20124440, 20458009, 22194935, 23074333, 23861158, 26212819, 26507537, 26811534, 28669108, 28815794, 28973951, 33986259, 35067102, 35544052, 35861968, 36252119, 36357925, 37477868, 40430031	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	14745153, 17587482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	LHGDN	18651846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	20031619, 20083571, 22017532, 22292720, 25892673, 26507537, 26811534, 27082122, 28642161, 28669108, 28839205, 31796423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	22685114, 26896474	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	14745153, 17587482		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	15542288, 18651846, 19293840, 20031601, 20201937, 22292720, 22464770, 23586019, 24037902, 24119082, 24205113, 25110706, 26095046, 26400351, 26458567, 26507537, 26525169, 28436080, 28669108, 30150400, 30871747, 31770195, 31983221, 32969603, 33025817, 33941202, 33947203, 34011823, 34066613, 34213952, 35067102, 35728000, 36472615, 36801602	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	26507537, 34853230	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	12084606, 16199542, 18258667, 18651846, 19087273, 20031601, 20038417, 21896538, 22292720, 22429680, 22857948, 22869457, 23233322, 23396983, 23494605, 23924931, 24093860, 25086479, 25342278, 25937619, 26999566, 27483260, 27841901, 30578328, 30681346, 30871747, 31308319, 31699273, 32290750, 32815737, 32846832, 33025817, 34929444, 35067102, 35861968, 36555486, 37252999, 37466024, 37498360, 39340495	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	12952912, 22112859, 22579624, 22857948, 35861968	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	18651846, 30953456, 32098556, 35614389	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	11106718, 11684629, 11773635, 11862580, 12923187, 14654368, 15464434, 15542288, 15623536, 15769782, 15923195, 17932326, 18506004, 18612386, 19253838, 19324435, 19412328, 20031601, 20079745, 20978592, 21551322, 22464770, 22517884, 22675533, 23074333, 23383212, 23539503, 24119082, 24205113, 24367593, 24503780, 24992688, 27153395, 28669108, 29367539, 31333075, 31568572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	11967535, 22292720, 28669108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG	17556660, 19477965		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1D (disorder)	Cardiomyopathy	CLINVAR_DG	10085122, 10449439, 10525521, 10617660, 10731693, 10978365, 11034944, 11060291, 11106718, 11113119, 11158969, 11606294, 11684629, 11773635, 12186860, 12707239, 12860912, 12923187, 12974739, 14636924, 14654368, 14722098, 15542288, 15563892, 15623536, 15769782, 15923195, 15958377, 16326803, 17456375, 17932326, 18349139, 18403758, 18506004, 18606313, 18651846, 19087273, 19324435, 19487599, 2003160, 20031601, 20057144, 20079745, 20159828, 20439259, 20624503, 20978592, 21310275, 21551322, 21683708, 21846512, 22144547, 22260945, 22334656, 22517884, 22579624, 22675533, 22857948, 23233322, 23283745, 23349452, 23383212, 23396983, 23494605, 23539503, 23663841, 24033266, 24119082, 24205113, 24367593, 24480310, 24691700, 24792744, 24793961, 24992688, 25031304, 25524337, 26498512, 26507537, 26656454, 26914223, 27036851, 27532257, 28408708, 7898523, 8205619, 8951566, 9060892, 9140840, 9201030, 9788962		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, 1D (disorder)	Cardiomyopathy	UNIPROT_DG	11106718, 11684629, 15542288, 15769782, 21846512		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, 1D (disorder)	Cardiomyopathy	GENOMICS_ENGLAND_DG	20031601, 20186049, 30681346		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, 1D (disorder)	Cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	CLINVAR_DG	12860912, 12974739, 15958377, 20031601, 20057144, 23283745, 25611685, 9154300		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 2	Cardiomyopathy	CLINVAR_DG	10085122, 10449439, 10525521, 10617660, 10731693, 10978365, 11034944, 11060291, 11106718, 11113119, 11158969, 11606294, 11684629, 11773635, 12186860, 12707239, 12860912, 12923187, 12974739, 14636924, 14654368, 14722098, 15542288, 15563892, 15623536, 15769782, 15923195, 15958377, 16326803, 17456375, 17932326, 18349139, 18403758, 18506004, 18606313, 18651846, 19087273, 19324435, 19487599, 2003160, 20031601, 20057144, 20079745, 20159828, 20439259, 20624503, 20978592, 21310275, 21551322, 21683708, 21846512, 22144547, 22260945, 22334656, 22517884, 22579624, 22675533, 22857948, 23233322, 23283745, 23349452, 23383212, 23396983, 23494605, 23539503, 23663841, 24033266, 24119082, 24205113, 24367593, 24480310, 24691700, 24792744, 24793961, 24992688, 25031304, 25524337, 26498512, 26507537, 26656454, 26914223, 27036851, 27532257, 28408708, 7898523, 8205619, 8951566, 9060892, 9140840, 9201030, 9788962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Hypertrophic, 2	Cardiomyopathy	UNIPROT_DG	10525521, 11034944, 12707239, 12974739, 15563892, 16199542, 21846512, 7898523, 8205619, 8989109, 9060892, 9140840, 9482583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Hypertrophic, 2	Cardiomyopathy	GENOMICS_ENGLAND_DG	20031601, 20186049, 30681346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Hypertrophic, 2	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	11862580, 15524172, 15542288, 16086176, 20031601, 20201937, 23586019, 24205113, 24992688, 25110706, 26095046, 26400351, 26458567, 26525169, 27936050, 28669108		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG	17556660, 19477965		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	29907873		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)	Cardiomyopathy	CLINVAR_DG	10085122, 10449439, 10525521, 10617660, 10731693, 10978365, 11034944, 11060291, 11106718, 11113119, 11158969, 11606294, 11684629, 11773635, 12186860, 12707239, 12860912, 12923187, 12974739, 14636924, 14654368, 14722098, 15542288, 15563892, 15623536, 15769782, 15923195, 15958377, 16326803, 17456375, 17932326, 18349139, 18403758, 18506004, 18606313, 18651846, 19087273, 19324435, 19487599, 2003160, 20031601, 20057144, 20079745, 20159828, 20439259, 20624503, 20978592, 21310275, 21551322, 21683708, 21846512, 22144547, 22260945, 22334656, 22517884, 22579624, 22675533, 22857948, 23233322, 23283745, 23349452, 23383212, 23396983, 23494605, 23539503, 23663841, 24033266, 24119082, 24205113, 24367593, 24480310, 24691700, 24792744, 24793961, 24992688, 25031304, 25524337, 26498512, 26507537, 26656454, 26914223, 27036851, 27532257, 28408708, 7898523, 8205619, 8951566, 9060892, 9140840, 9201030, 9788962		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)	Cardiomyopathy	GENOMICS_ENGLAND_DG	20031601, 20186049, 30681346		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)	Cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG	10521296, 11346248, 11560853, 12860912, 8951566, 9060892		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	10850966, 10965086, 11779518, 11967535, 8989109, 9140840, 9482583, 9637714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	LHGDN	11857753, 14722098, 15568820, 16115869, 16882671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CTD_human_DG	12600890, 9241277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	CTD_human_DG	14761428		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23219305, 31014085	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	LHGDN	15604421		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	18032444		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	CTD_human_DG	18068611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	26884081	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32627044	Stimulate	★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	16086176		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	27915985		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	11967535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	12322705, 17698733		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	18645057		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	31746393	Associate	★☆☆☆☆ Found in Text Mining only
Crisponi syndrome	Crisponi syndrome	Pubtator	31748410	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	35637650	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	31201803		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	31201803	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	31308319	Associate	★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	11684629, 15542288		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	11862580, 15524172, 15769782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	15542288, 18651846, 19412328, 24205113, 26498512, 33941202	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			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial isolated restrictive cardiomyopathy	Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Friedreich Ataxia	Friedreich Ataxia	BEFREE	11857753		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	LHGDN	11857753		★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	CTD_human_DG	26787432		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	CTD_human_DG	26787432		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type II, Infantile	Glycogen Storage Disease	CTD_human_DG	26787432		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II, Juvenile	Glycogen Storage Disease	CTD_human_DG	26787432		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	CTD_human_DG	17848144		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart disease	Pubtator	21139111, 21962825, 23861158, 28669108, 33025817, 40430031	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart disease	Pubtator	23924931, 23964755	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	11967535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	CTD_human_DG	12322705, 17698733		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	15542288, 20124440, 22685114, 23219305, 24119082, 28669108, 31014085, 33025817, 35861968	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	12322705, 17698733		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	10449439, 16538283, 9482583		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26494378	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	10085122, 10521296, 10525521, 10529204, 10617660, 10731693, 11034944, 11060294, 11113119, 11158969, 11346248, 11560853, 11606294, 11684629, 11968089, 12084606, 12186860, 12473556, 12707239, 12746413, 12860912, 12923187, 14636924, 14640471, 14654368, 14722098, 15563892, 15568820, 15623536, 15631686, 15769782, 15923195, 16115294, 16326803, 16538283, 17456375, 17612745, 17932326, 18029407, 18258667, 18403758, 18506004, 18533079, 18651846, 18809796, 19087273, 19150014, 19253838, 19487599, 19880069, 19914256, 19996403, 20031602, 20414521, 20439259, 20624503, 21185001, 21245263, 22321274, 22334656, 22579624, 22675533, 22857948, 23074333, 23233322, 23283745, 23396983, 23494605, 23539503, 24367593, 24691700, 25524337, 26507537, 26914223, 27532257, 28073646, 28420666, 28735292, 28973951, 7898523, 8205619, 8951566, 8958207, 9060892, 9201030, 9637714		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	10330428, 10405326, 10449439, 11060294, 14636924, 1934353, 23494605, 27532257, 27721798, 8205619, 9637714		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12473556, 12881443, 14986170, 15246915, 15563892, 16538283, 16858239, 17612745, 18258667, 19087273, 19189074, 19645627, 19666196, 20038417, 21245263, 21425739, 22017532, 22144547, 23233322, 23494605, 23711808, 24093860, 25086479, 26969327, 27737317, 29907873, 8958207		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	18029407, 19061534		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	19087273		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12881443, 14986170, 15246915, 16538283, 19666196, 20038417, 22017532, 22144547, 23711808, 24093860, 27737317, 8958207		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	19087273		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	20038417	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	18651846, 21139111	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	23219305	Stimulate	★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	25050861		★☆☆☆☆ Found in Text Mining only
Idiopathic hypertrophic subaortic stenosis	Hypertrophic Subaortic Stenosis	CTD_human_DG	12600890, 9241277		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27915985		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	26494378	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	14986170, 22144547, 23674513		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	LHGDN	14986170, 17289431, 18780659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	20031619		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction	Left ventricular noncompaction	ORPHANET_DG	20083571		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction	Left ventricular noncompaction	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	20083571, 25550050		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	12322705, 17698733		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	23924931	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	14745153, 17587482		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	12322705, 17698733		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	12760310, 15226628, 17512511, 17848144, 18174208, 18460953		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25918054		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	28588090, 28751286, 29475914, 35389756, 39395935	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	29622161	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	10789933		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	19813068	Stimulate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	34371182	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	20840783	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Obstructive asymmetric septal hypertrophy	Obstructive Asymmetric Septal Hypertrophy	CTD_human_DG	12600890, 9241277		★☆☆☆☆ Found in Text Mining only
Other restrictive cardiomyopathy	Restrictive cardiomyopathy	ORPHANET_DG	16651346		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	CTD_human_DG	10789933		★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	CLINVAR_DG	10525521		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Restrictive cardiomyopathy	Restrictive cardiomyopathy	LHGDN	16651346		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoidosis	Sarcoidosis	Pubtator	27803423	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	CTD_human_DG	12600890		★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid valve disease	Pubtator	31770195	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	19189074		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction	Ventricular dysfunction	Pubtator	26507537	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	24204736, 32098556, 34066613, 35861968	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	24119082	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	BEFREE	31759053		★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations