TNNI3 (troponin I3, cardiac type)

Gene

• Entrez ID: 7137
• Gene name: Troponin I3, cardiac type
• Gene symbol: TNNI3
• Synonyms (NCBI Gene): CMD1FF, CMD2A, CMH7, RCM1, TNNC1, cTnI
• Chromosome: 19
• Chromosome location: 19q13.42
• Summary: Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating stria

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs7252610	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Intron variant
rs77615401	G>A	Benign-likely-benign, likely-benign, risk-factor, benign	Coding sequence variant, missense variant
rs104894724	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs104894725	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs104894727	C>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894728	T>C	Pathogenic	Coding sequence variant, missense variant
rs104894729	C>A,G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894730	T>C	Pathogenic	Coding sequence variant, missense variant
rs121917760	A>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121917761	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs193922409	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607127	C>T	Pathogenic	Missense variant, coding sequence variant
rs267607128	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607129	G>C	Pathogenic	Missense variant, coding sequence variant
rs267607130	T>G	Pathogenic	Missense variant, coding sequence variant
rs368861241	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs377258542	G>C,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397516340	C>A	Likely-pathogenic	Splice acceptor variant
rs397516347	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516348	G>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397516349	C>T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397516351	TTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs397516352	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397516353	G>A	Pathogenic	Coding sequence variant, missense variant
rs397516354	C>A,G,T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397516355	C>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs397516356	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516357	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397516358	C>A,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727503499	G>A	Pathogenic	Coding sequence variant, missense variant
rs727503500	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs727503501	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503503	C>T	Pathogenic	Coding sequence variant, missense variant
rs727503504	G>A,C,T	Likely-pathogenic, uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, missense variant
rs727503506	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs727504242	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504243	G>A,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504275	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504285	G>A,C	Likely-pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs727504365	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880231	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs730881066	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730881069	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs730881071	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730881072	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730881075	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730881076	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730881077	T>C	Pathogenic	Coding sequence variant, missense variant
rs730881078	T>G	Pathogenic	Coding sequence variant, missense variant
rs730881079	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730881081	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730881082	T>A	Pathogenic	Coding sequence variant, missense variant
rs730881085	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730881087	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730881090	G>A,C	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs730881091	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs772607683	->T	Pathogenic	Coding sequence variant, frameshift variant
rs777702465	A>T	Pathogenic	Splice donor variant
rs876661394	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1057521530	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs1085308019	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1114167340	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1568858210	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599907512	->A	Uncertain-significance, likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020004	hsa-miR-375	Microarray	20215506

Transcription factors

Transcription factor	Regulation	Reference
MEF2A	Unknown	10652194
SP1	Unknown	10652194

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001570	Process	Vasculogenesis	IEA
GO:0001570	Process	Vasculogenesis	ISS
GO:0001980	Process	Regulation of systemic arterial blood pressure by ischemic conditions	IEA
GO:0001980	Process	Regulation of systemic arterial blood pressure by ischemic conditions	ISS
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0003779	Function	Actin binding	IDA	10806205
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	10806205, 12525172, 12721663, 12809519, 12840750, 16516408, 18986304, 21569246, 23369981, 25910212, 28514442, 29997244, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005861	Component	Troponin complex	IBA
GO:0005861	Component	Troponin complex	IDA	7957210, 10806205, 10850966, 12093807
GO:0005861	Component	Troponin complex	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	ISS
GO:0006937	Process	Regulation of muscle contraction	IEA
GO:0006940	Process	Regulation of smooth muscle contraction	IEA
GO:0006941	Process	Striated muscle contraction	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0010882	Process	Regulation of cardiac muscle contraction by calcium ion signaling	IMP	25771144
GO:0019855	Function	Calcium channel inhibitor activity	IPI	12809519
GO:0019901	Function	Protein kinase binding	IPI	12721663
GO:0019904	Function	Protein domain specific binding	IPI	11984006
GO:0030016	Component	Myofibril	IEA
GO:0030017	Component	Sarcomere	IEA
GO:0030017	Component	Sarcomere	NAS	12840750
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0030049	Process	Muscle filament sliding	NAS	12840750
GO:0030172	Function	Troponin C binding	IPI	7957210, 11735257, 15542288
GO:0031014	Function	Troponin T binding	IPI	15542288
GO:0032780	Process	Negative regulation of ATP-dependent activity	IDA	7957210, 11735257
GO:0032780	Process	Negative regulation of ATP-dependent activity	IMP	10806205
GO:0043292	Component	Contractile muscle fiber	IEA
GO:0048306	Function	Calcium-dependent protein binding	IPI	7957210
GO:0051015	Function	Actin filament binding	IPI	25771144
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	11815426, 16754800
GO:0060047	Process	Heart contraction	IMP	12531876
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	11735257
GO:0060048	Process	Cardiac muscle contraction	NAS	12840750
GO:0097512	Component	Cardiac myofibril	IMP	25771144
GO:1990584	Component	Cardiac Troponin complex	IEA
GO:1990584	Component	Cardiac Troponin complex	IMP	25771144
GO:1990584	Component	Cardiac Troponin complex	IPI	12840750

Other IDs

• MIM: 191044
• HGNC: 11947
• e!Ensembl: ENSG00000129991

Protein

• UniProt ID: P19429
• Protein name: Troponin I, cardiac muscle (Cardiac troponin I)
• Protein function: Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
• PDB: 1J1D, 1J1E, 1LXF, 1MXL, 1OZS, 2KGB, 2KRD, 2L1R, 2MZP, 2N7L, 4Y99, 5VLN, 5W88, 5WCL, 6KN7, 6KN8, 6MV3, 7JGI, 7SC2, 7SC3, 7SUP, 7SVC, 7SWG, 7SWI, 7SXC, 7SXD, 7UH9, 7UHA, 7UTI, 7UTL, 8DZV, 8FMM, 8FMN, 8FMO, 8FMP, 8FMQ, 8FMR, 8FMS, 8FMT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11636	Troponin-I_N	1 → 31	Troponin I residues 1-32	Family
  PF00992	Troponin	46 → 177	Troponin	Family

• Sequence:

  MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIAKQE
  LEREAEERRGEKGRALSTRCQPLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTK
  NITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLGARAKESLDLRAHLKQVKKED
  TEKENREVGDWRKNIDALSGMEGRKKKFES

• Sequence length: 210

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	rs727504243, rs727504285, rs727504242, rs727504275, rs104894724, rs104894727, rs397516347, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357	RCV002470778 RCV003486687 RCV001798495 RCV004786409 RCV003317736 RCV001798003 RCV000777480 RCV001170617 RCV000777481 RCV001178632 RCV001170616 RCV001170614 RCV001170613 RCV000770565	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiomyopathy, familial restrictive, 1	Pathogenic; Likely pathogenic	rs2147285302, rs727503499, rs727503504, rs1114167340, rs104894727, rs104894728, rs104894729, rs104894730, rs104894724, rs121917760, rs397516347, rs397516349, rs397516354	RCV002246776 RCV004584615 RCV001254049 RCV000490996 RCV002496340 RCV000013236 RCV000013237 RCV000013238 RCV000013239 RCV000013241 RCV002477081 RCV000763057 RCV000477941	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs727504243, rs727504285, rs727504242, rs727504275, rs727503503, rs730881091, rs876661394, rs104894724, rs104894727, rs104894729, rs267607128, rs397516347, rs397516349, rs397516353, rs397516354, rs397516357	RCV005761966 RCV002354364 RCV002336315 RCV002354362 RCV003343657 RCV002354396 RCV000248954 RCV000251781 RCV002354157 RCV000619328 RCV002354158 RCV002326734 RCV000621089 RCV002336121 RCV000620118 RCV003162313 RCV000620207	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1FF	Likely pathogenic; Pathogenic	rs2147283171, rs727503499, rs104894727, rs104894724, rs267607130, rs267607129, rs397516347, rs397516349, rs397516354, rs397516355	RCV001530202 RCV003224802 RCV002496340 RCV004795401 RCV000013243 RCV000013244 RCV002477081 RCV000763057 RCV000477941 RCV002468559	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 2A	Likely pathogenic; Pathogenic	rs727503499, rs104894727, rs104894729, rs104894724, rs397516347, rs397516349, rs397516354	RCV003224802 RCV002496340 RCV003388566 RCV004795401 RCV002477081 RCV000763057 RCV000477941	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs111406690, rs397516340, rs2147285332, rs2085710902, rs727504243, rs727504285, rs104894729, rs727503499, rs727503504, rs727504242, rs727504275, rs727503500, rs727503503, rs730881091, rs2515504362, rs750870502, rs2515498269, rs2515503651, rs104894724, rs104894727, rs267607128, rs1248155083, rs1286340820, rs2515498567, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs1245885836, rs1568858210, rs1251941984	RCV001349114 RCV001341149 RCV001908484 RCV001916092 RCV000531443 RCV000628864 RCV000154466 RCV001066777 RCV000456293 RCV000628993 RCV000469008 RCV000156328 RCV000152073 RCV000152076 RCV001239093 RCV002800942 RCV002806724 RCV002816616 RCV003009849 RCV003009850 RCV000557688 RCV000461416 RCV000154212 RCV000498333 RCV001851817 RCV003587819 RCV003749272 RCV003750203 RCV000036268 RCV000465349 RCV000036292 RCV000200141 RCV000465603 RCV000197981 RCV000629031 RCV002513378 RCV000167988 RCV000628965 RCV000701643 RCV001202093	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy 1	Likely pathogenic	rs2085712265	RCV001256923	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 7	Likely pathogenic; Pathogenic	rs727504285, rs727503499, rs727504242, rs727504275, rs730881091, rs104894724, rs104894725, rs104894727, rs104894728, rs104894730, rs267607127, rs2147283135, rs267607128, rs397516347, rs397516349, rs397516353, rs397516354, rs397516357	RCV004786410 RCV003326361 RCV000709766 RCV005054161 RCV000201449 RCV000013231 RCV000013232 RCV000013234 RCV000013235 RCV001331172 RCV004795401 RCV000013245 RCV000013246 RCV000013247 RCV002051801 RCV000763057 RCV000578464 RCV000477941 RCV002250504 RCV001258033	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs397516352, rs397516355, rs397516356	RCV000036298 RCV000036303 RCV000036305	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs727504285, rs104894727, rs104894729, rs397516349, rs397516353, rs397516354, rs397516357	RCV000623545 RCV000148897 RCV000157534 RCV000208273 RCV001174966 RCV000208428 RCV006255136 RCV000157533	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Restrictive cardiomyopathy	Likely pathogenic; Pathogenic	rs727503499, rs727503504, rs727503503, rs730880231, rs104894729, rs104894724	RCV000152072 RCV000157530 RCV000152076 RCV000157531 RCV000154212 RCV001254730	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SUDDEN INFANT DEATH SYNDROME	Pathogenic	rs104894729, rs104894724	RCV003147282 RCV001787387	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TNNI3-associated disorder	Likely pathogenic; Pathogenic	rs727504243	RCV005621891	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TNNI3-related disorder	Likely pathogenic; Pathogenic	rs727504275, rs730881078, rs104894724, rs397516353, rs397516354	RCV004551331 RCV004551361 RCV004549357 RCV004549441 RCV004549442	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Amyloidosis, hereditary systemic 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ 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, 1FF	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 2A	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	—	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, FAMILIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, RESTRICTIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Recessive	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	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 Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ 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	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOCARDIAL INFARCTION	—	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)
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden cardiac arrest	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ 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	LHGDN	18569954, 18760145		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	27166316, 28034899, 28062625, 28939707, 29127948, 29518369, 29715175, 30354460, 30429666, 30442743, 30985691, 31623760		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	16091738, 24817928		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	29740659		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	29740659		★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	LHGDN	11596911		★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	27388716, 30005556		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	20124440		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	20359594	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	33947203, 37949661	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriosclerosis	Arteriosclerosis	BEFREE	30958029		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	28722504		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28420758		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30958029		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	15289369, 20641121, 26169204, 28340049, 29607894, 30626765, 31280356, 31579995		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	20043329	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	20641121, 26169204	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	Pubtator	24367055	Associate	★☆☆☆☆ Found in Text Mining only
Barth Syndrome	Barth syndrome	Pubtator	40555742	Inhibit	★☆☆☆☆ Found in Text Mining only
Biventricular hypertrophy	Biventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	17650080	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	21959857	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	9306963		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	16020591	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24817928	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	16531415, 17446435, 18042489, 18820258, 20817590, 26304555, 26440512, 28382084, 28700019, 29321061, 31141358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	LHGDN	16887211, 18042489		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	17587482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	20043329, 20124440, 22194935, 26212819, 28359509, 28719430, 28815794, 32885985, 33179204, 34502534, 35544052, 35705319, 36252119, 36814108, 37949661	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_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	17587482		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies, Primary	Cardiomyopathy	BEFREE	31568572		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	15542288, 20215591, 23923004, 26458567, 28436080, 29093449, 30070845, 30150400, 30395933, 31983221, 33901537, 33947203, 34213952, 36814108, 37457373	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Familial Hypertrophic 1	Cardiomyopathy	Pubtator	22876777	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Familial Restrictive 1	Cardiomyopathy	Pubtator	29176140	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	10806205, 12109867, 15607392, 16020591, 16199542, 16302972, 19439414, 20043329, 20359594, 20459070, 20641121, 21896538, 22429680, 22515980, 22815480, 22857948, 22876777, 23396983, 23924931, 24020864, 24367055, 25086479, 25342278, 25458192, 25606687, 25940119, 26169204, 27385602, 27483260, 28386062, 28498465, 28771489, 30150400, 30681346, 30953456, 31308319, 32815737, 32885985, 33947203, 36166435, 36555486, 36814108, 37457373, 37466024, 37498360, 39340495, 39971408	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	10806205, 22112859, 22857948, 25940119, 26199943, 28498465	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	12531876, 25940119, 27557662, 29176140, 30953456, 34502534, 35614389, 37646638, 38193576	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	14595408, 15070570, 17021793, 17446435, 17577574, 18803402, 22940544, 26232335, 27133568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG	15070570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	17977476, 18063575, 18803402		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	22464770, 24503780, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1FF	Cardiomyopathy	CLINVAR_DG	12860912, 15607392, 15698845, 21511876, 22876777		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1FF	Cardiomyopathy	UNIPROT_DG	19590045, 21846512		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1FF	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 21533915, 30681346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1FF	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1z	Cardiomyopathy	UNIPROT_DG	15542288		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated, 1z	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 27532257, 30681346		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated, 1z	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated, 1z	Cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, 2A (disorder)	Cardiomyopathy	CLINVAR_DG	12860912, 15607392, 15698845, 21511876, 22876777		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, 2A (disorder)	Cardiomyopathy	UNIPROT_DG	19590045, 21846512		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, 2A (disorder)	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 21533915, 30681346		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, 2A (disorder)	Cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 13	Cardiomyopathy	UNIPROT_DG	11385718, 16302972, 18572189, 19439414		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 13	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 27532257, 30681346		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 13	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 13	Cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	Cardiomyopathy	CLINVAR_DG	10806205, 11735257, 12860912, 15607392, 15698845, 21511876, 21799269, 22429680, 22876777, 23270746, 24113344		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	Cardiomyopathy	UNIPROT_DG	11815426, 12707239, 12974739, 16199542, 9241277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 21533915, 30681346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	15070570, 15542288, 15671604, 17021793, 17577574, 19590045, 20215591, 20458010, 21832052, 22940544, 23539503, 26458567, 27133568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG	15070570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	12531876, 16288990, 17027633, 18006163, 20580639, 25450489, 25940119, 27557662, 29176140, 29907873		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	UNIPROT_DG	12531876		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	CLINVAR_DG	12860912, 15607392, 15698845, 21511876, 22876777		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 21533915, 30681346		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	10731450, 10806205, 11735257, 11853553, 14575308, 14595408, 14596793, 15147183, 15524171, 15867176, 18096573, 26341255		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG	10806205, 11735257, 11815426, 12531876, 12707239, 12860912, 15607392, 15698845, 15992656, 16199542, 16335287, 16352453, 16531415, 17027633, 17463320, 18402758, 18403758, 18408133, 18423659, 19289050, 19645627, 19651143, 20031618, 20035081, 20161772, 20624503, 20641121, 21239446, 21310275, 21533915, 21777381, 21799269, 21839045, 21896538, 22112859, 22429680, 22675533, 22765922, 22876777, 23283745, 23540544, 23610579, 24111713, 24704860, 25086479, 25132132, 25239116, 25524337, 25611685, 25940119, 26440512, 26506446, 26914223, 27532257, 27557662, 28356264, 28498465, 28790153, 9241277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	LHGDN	11735257, 11801593, 14575308, 14596793		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CTD_human_DG	11801593, 11815426, 9241277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Abnormalities	Cardiovascular Abnormalities	BEFREE	29572478		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27535138, 28747765, 29066610, 29381962, 29506712, 29572478, 29672821, 29905470		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31014085, 37708555	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	31851767	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	15604421		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20641121, 30651032		★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	31667041		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	10585344		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31772848		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30165984		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	9220495		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39494275	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	26741492		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	28137395, 29910113, 31522246		★☆☆☆☆ Found in Text Mining only
Congenital Methemoglobinemia	Congenital methemoglobinemia	Pubtator	36837579	Stimulate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	15524171, 18955666, 26232335, 28849609, 28899987, 29389729, 30320285, 30571192, 30732172, 30895632, 30985109, 31730560		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	27257829, 28402094, 29444926, 29466787, 29917209, 29929614, 30070334, 30194527, 31154829, 31792806		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26078712, 29444926, 29668531, 30700582, 31154829		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	32757795	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	31014085	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29444926, 31154829, 31522246		★☆☆☆☆ Found in Text Mining only
Coronary Vessel Anomalies	Coronary vessel anomalies	Pubtator	22704287	Associate	★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	30101857		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	30499654		★☆☆☆☆ Found in Text Mining only
Crisponi syndrome	Crisponi syndrome	Pubtator	31748410	Associate	★☆☆☆☆ Found in Text Mining only
Cyanosis	Cyanosis	Pubtator	36837579	Stimulate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	21762512, 28722504		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28039523		★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	BEFREE	8655763		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	15147183, 22940544, 28820802		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30126950, 31509271		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23270513	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30126950, 30221497, 31509271		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	29544221, 30107170		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	Pubtator	37355664	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	LHGDN	17594788		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	23199721	Stimulate	★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	29146682		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	27811209		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	27322070	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	30754056	Stimulate	★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	15070570, 15542288, 19590045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	15542288, 20215591, 26199943	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated restrictive cardiomyopathy	Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	BEFREE	28365092		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	30503299		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	30101857		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	24899611	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	15607392, 23924931, 25771144, 27322070, 27557662, 37005753	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart Diseases	BEFREE	15711886, 18042489, 29544221, 29740659, 30068764, 31551016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart Diseases	CTD_human_DG	19549929		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	15524171, 18955666, 26232335, 28849609, 28899987, 29389729, 30320285, 30571192, 30732172, 30895632, 30985109, 31730560		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	15542288, 21751783, 24814372, 24899611, 26199943, 28359509, 31014085, 36074967, 39276349	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	30895632	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	35893033	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	29789900, 30893052		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29789900, 30893052		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	15524171, 18096573, 18362229		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	39542781	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	26078712, 29056947, 29630122		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	10591029, 10731450, 10806205, 10931807, 11835033, 11923807, 12109867, 12242271, 15607392, 15698845, 15961398, 16288990, 16302972, 17599605, 17932326, 18175163, 18430738, 18572189, 18820258, 19449150, 19506933, 19590045, 19645627, 20558914, 21056975, 21839045, 22086914, 22815480, 22876777, 23425245, 23782526, 24083979, 25086479, 25450489, 25940119, 25961037, 26304555, 26506446, 26553696, 26976709, 27150586, 27385602, 27604170, 28049727, 28382084, 28473771, 28849602, 30138628, 30620548, 30626765, 30885674, 31019180, 9241277, 9475582		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	10731705, 10806205, 11724573, 11735257, 11801593, 11815426, 11853553, 12044157, 12531876, 12707239, 12746413, 12860912, 14575308, 15070570, 15607392, 15698845, 15718266, 15961398, 15992656, 16020591, 16199542, 16274223, 16288990, 16335287, 16352453, 16531415, 17027633, 17463320, 17599605, 17932326, 18269819, 18403758, 18408133, 18409188, 18430738, 18548271, 18572189, 18801787, 19035361, 19289050, 19439414, 19449150, 19645627, 19651143, 20031618, 20161772, 20459070, 20569525, 20617149, 20624503, 20641121, 20800588, 21056975, 21239446, 21310275, 21511876, 21533915, 21799269, 21896538, 22301726, 22429680, 22489623, 22675533, 22876777, 23270746, 23425245, 23540544, 23906401, 23967088, 24113344, 24510615, 25524337, 25611685, 25940119, 26169204, 26304555, 26914223, 26976709, 27532257, 27557662, 27600940, 27604170, 28473771, 28533433, 28790153, 3144325, 9241277		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	11055985, 11385718, 12242271, 15607392, 15698845, 15867176, 16302972, 16950368, 18430738, 18572189, 19035361, 19715700, 20566645, 20641121, 20925115, 21262074, 22086914, 22815480, 22876777, 24260207, 26304555, 26341255, 26779504, 26976709, 27532257, 9241277		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	11853553, 15698845, 16288990, 18430738, 18572189		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	10591029, 10731450, 10806205, 12109867, 15607392, 15698845, 15961398, 16302972, 18175163, 18430738, 18572189, 19506933, 19590045, 21056975, 22086914, 22876777, 23425245, 25450489, 25961037, 26304555, 26506446, 26553696, 26976709, 27604170, 28382084, 30620548, 9241277		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	32815737	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	16020591, 30681346	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	27322070	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic hypertrophic subaortic stenosis	Hypertrophic Subaortic Stenosis	CTD_human_DG	11801593, 11815426, 9241277		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	29538753, 29563381		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30068764		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29056947		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28399905		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	10585344		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	12270775		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	16020591, 16115294		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left ventricular systolic dysfunction	Ventricular Systolic Dysfunction	BEFREE	28323905, 28384345, 28394368		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	Leopard syndrome	Pubtator	33179204	Associate	★☆☆☆☆ 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	29905470		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32946432	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	27713166		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27713166	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	9306963		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	27713166		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10592053, 24817928, 28444427, 9334802		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16924594		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	15147183, 22940544, 28820802		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	23924931	Inhibit	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26741492	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	10585344		★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	17587482		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	11277863, 26648172, 27070210, 27811206, 27811209, 27847253, 27865959, 28479248, 28662037, 28739197, 28740146, 28777252, 29114078, 29127948, 29303766, 29457712, 29935487, 29957339, 30442743, 30680992, 30717341, 30989395, 31277053, 31570633, 31623760, 31776448, 31844990		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	12359538		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	LHGDN	18381864, 19090253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	21330421, 25405803, 29691270, 31014085, 34685725, 35389756, 37203392, 39395935	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	28338188, 37708555	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	27257829, 28402094, 29466787, 29917209, 29929614, 30070334, 30194527, 31288395, 31792806		★☆☆☆☆ Found in Text Mining only
Myocardial necrosis	Myocardial necrosis	BEFREE	28662037, 28777252		★☆☆☆☆ Found in Text Mining only
Myocardial Stunning	Myocardial Stunning	BEFREE	14551240, 18378675		★☆☆☆☆ Found in Text Mining only
Myocardial Stunning	Myocardial Stunning	LHGDN	14551240		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	18955666, 28207428, 29157297		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopathy	Myopathy	BEFREE	17027633, 29622161, 30666995		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	28323905, 28384345		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	28323905, 31579995		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	17181107		★☆☆☆☆ Found in Text Mining only
Nemaline myopathy 5	Nemaline myopathy	Pubtator	30395933	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15603851, 29276835, 31040162, 9334802		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15603851, 24817928		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23408508	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29506712		★☆☆☆☆ Found in Text Mining only
Obstructive asymmetric septal hypertrophy	Obstructive Asymmetric Septal Hypertrophy	CTD_human_DG	11801593, 11815426, 9241277		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24598996		★☆☆☆☆ Found in Text Mining only
Other restrictive cardiomyopathy	Restrictive cardiomyopathy	ORPHANET_DG	12531876		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25277212, 33592378	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	37949661	Associate	★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	BEFREE	31419595		★☆☆☆☆ Found in Text Mining only
Pericarditis, Constrictive	Pericarditis	BEFREE	25940119		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	28645934, 29902265, 31173734		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28039523		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21898349		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29079658		★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	BEFREE	12531876, 15569399, 15961398, 16288990, 17027633, 18006163, 19651143, 20580639, 25125179, 25450489, 27557662, 27604170, 28382084		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Restrictive cardiomyopathy	Restrictive cardiomyopathy	CLINVAR_DG	12531876, 15961398, 16531415, 17027633, 17463320, 17599605, 18408133, 19289050, 19449150, 20031618, 20161772, 20800588, 21533915, 22675533, 23906401		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Restrictive cardiomyopathy	Restrictive cardiomyopathy	CTD_human_DG	12531876		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Restrictive cardiomyopathy	Restrictive cardiomyopathy	LHGDN	15961398, 16288990, 18032382		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Restrictive cardiomyopathy	Restrictive cardiomyopathy	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28722504, 29554376		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	30101857		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septal hypertrophy	Septal Hypertrophy	BEFREE	27604170		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29304220, 30956276, 31433522		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28736306		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27713166, 39757032	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	24817928		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	26258721, 29030746, 30826528, 31828271		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	29444926		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	20641121	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	28627225		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	11407697, 21898349		★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	27713166	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	31280457		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	20043329, 32885985	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	12109867, 22815480, 33179204	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	BEFREE	25940119		★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only