Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	7139
Gene name	Troponin T2, cardiac type
Gene symbol	TNNT2
Synonyms (NCBI Gene)	CMD1DCMH2CMPD2LVNC6RCM3TnTCcTnT
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.

Show/Hide all (89)

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

Show/Hide all (1)

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

Show/Hide all (37)

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

MIM	HGNC	e!Ensembl
191045	11949	ENSG00000118194

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

Interactions

View interactions

2975

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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
Cardiomyopathy, familial restrictive, 3	Likely pathogenic; Pathogenic	rs1659515084, rs2102262330, rs727504247, rs727504277, rs727504255, rs111377893, rs727504246, rs727504331, rs727503513, rs730881116, rs730881098, rs2527024893, rs397516459, rs397516465, rs727503512 View all (16 more)	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
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs727504247, rs376923877, rs727504246, rs727503513, rs730881116, rs111377893, rs727503512, rs121964855, rs121964856, rs74315379, rs74315380, rs397516455, rs397516456, rs397516457, rs397516463 View all (4 more)	RCV002444634 RCV002408685 RCV000617860 RCV000619541 RCV000586854 RCV004019928 RCV002338676 RCV000243910 RCV000621709 RCV004991970 RCV000588329 RCV000618563 RCV000620701 RCV000619351 RCV000619398 RCV000243733 RCV000620577 RCV002336123 RCV000247384 RCV002426558 RCV005400758
Dilated cardiomyopathy 1D	Likely pathogenic; Pathogenic	rs1659515084, rs2102262330, rs1558243381, rs727504247, rs727504255, rs111377893, rs727504246, rs727504331, rs727503513, rs730881116, rs730881098, rs2527024893, rs397516459, rs397516465, rs727503512 View all (18 more)	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
Familial isolated dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs74315379	RCV000710045
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs1659515084, rs727504247, rs376923877, rs727504277, rs727504255, rs111377893, rs727504246, rs727504331, rs730881116, rs730881122, rs121964855, rs121964856, rs121964858, rs74315379, rs1553279294 View all (5 more)	RCV004764976 RCV000824774 RCV000154493 RCV000154282 RCV000154228 RCV000152095 RCV000154216 RCV000824804 RCV000606000 RCV000768492 RCV000211864 RCV000211865 RCV004802934 RCV000211866 RCV004764931 RCV000036571 RCV000768491 RCV000036575 RCV000036576 RCV000036583 RCV000211867 RCV000036621
Hypertrophic cardiomyopathy 2	Likely pathogenic; Pathogenic	rs1659515084, rs2102262330, rs727504247, rs727504255, rs111377893, rs727504246, rs727504331, rs727503513, rs730881116, rs730881098, rs2527024893, rs863225120, rs397516459, rs397516465, rs727503512 View all (17 more)	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
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs111377893	RCV005888566
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
Primary familial dilated cardiomyopathy	Likely pathogenic	rs1571627006	RCV000845448
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs727504331, rs727503513, rs397516456, rs1571627587	RCV000211744 RCV001193334 RCV000208103 RCV000845505
Restrictive cardiomyopathy	Likely pathogenic; Pathogenic	rs727503513	RCV000152104
TNNT2-related disorder	Pathogenic; Likely pathogenic	rs397516464, rs45578238	RCV004541100 RCV004737177

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs1571674050	RCV005923762
Costello syndrome	Likely benign	rs121964857	RCV000157540
Dilated cardiomyopathy 1DD	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs483352836, rs483352835, rs483352833, rs483352834, rs483352832	RCV000119340 RCV000119341 RCV000119342 RCV000119343 RCV000119344
Dilated cardiomyopathy 1S	Uncertain significance	rs1114167329	RCV000490860
Dilated Cardiomyopathy, Dominant	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs730881092, rs45520032, rs3729998, rs886045829, rs886045828, rs763204242, rs45490292, rs45580032, rs3729845, rs140245123, rs3729547, rs35914325, rs374443596, rs45533739, rs397516475, rs3730238 View all (1 more)	RCV000366797 RCV000338870 RCV000381275 RCV000315562 RCV000406090 RCV000272240 RCV000333512 RCV000315922 RCV000304487 RCV000348568 RCV000266465 RCV000365370 RCV000287633 RCV000291224 RCV000310708 RCV000403500
Familial cancer of breast	Likely benign	rs139924149	RCV005904177
Familial restrictive cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs730881092, rs3729998, rs886045829, rs886045828, rs45490292, rs45580032, rs3729845, rs3729547, rs45533739, rs397516475, rs3730238	RCV000275978 RCV000403791 RCV000405362 RCV000374831 RCV000278193 RCV000275890 RCV000345311 RCV000321667 RCV000385533 RCV000350090 RCV000300748
Gastric cancer	Benign	rs1571674050	RCV005923763
Hypertrophic cardiomyopathy 1	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs397516484, rs786205908, rs121964857, rs367785431	RCV000584829 RCV000172888 RCV000162331 RCV000201898
Hypertrophic cardiomyopathy 4	Conflicting classifications of pathogenicity	rs397516451	RCV004562311
Hypertrophic cardiomyopathy 7	Conflicting classifications of pathogenicity	rs749454768	RCV004761856
Hypokinetic non-dilated cardiomyopathy	Uncertain significance	rs1060500235	RCV000491780
Increased left ventricular wall thickness	Conflicting classifications of pathogenicity	rs200754249	RCV000148900
Left ventricular hypertrophy	Likely benign	rs1558248842	RCV000781952
Left ventricular noncompaction	Uncertain significance	rs2526974835	RCV002472272
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs483352832, rs730881092, rs45520032, rs750800588, rs3729998, rs886045829, rs886045828, rs776936911, rs45490292, rs45580032, rs397516449, rs3729845, rs140245123, rs3729547, rs35914325 View all (4 more)	RCV002055314 RCV000312326 RCV000283636 RCV000208470 RCV000289254 RCV000336460 RCV000335373 RCV000275635 RCV000404008 RCV000372658 RCV000260798 RCV000355627 RCV000290215 RCV000391525 RCV000262774 RCV000361172 RCV000381877 RCV000330905 RCV000313864 RCV000336926
Myocarditis	Conflicting classifications of pathogenicity	rs483352832	RCV002055315
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs371047521, rs397516459	RCV003985406 RCV003886369
Sudden cardiac death	Conflicting classifications of pathogenicity	rs201753429	RCV000208300
Sudden unexplained death	Benign	rs540630390	RCV000999595
Supraventricular tachycardia	Conflicting classifications of pathogenicity	rs200754249	RCV000852592
Thymoma	Benign; Likely benign	rs1571674050, rs45533739	RCV005923765 RCV005867819
Uterine carcinosarcoma	Benign; Likely benign	rs1571674050, rs139924149	RCV005923764 RCV005904178
Uterine corpus endometrial carcinoma	Benign	rs1571674050	RCV005923766
Wolff-Parkinson-White pattern	Uncertain significance	rs1289914935	RCV000656211

Show/Hide Text Mining Associations (62)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Disease	Associate	22277685
Amputation Congenital	Stimulate	22277685
Aphasia Conduction	Associate	20458009
Apical Hypertrophic Cardiomyopathy	Associate	19293840, 22292720, 24594054, 37029482, 39849562
Arrhythmias Cardiac	Associate	32098556
Atrial Fibrillation	Associate	34732054
Barth Syndrome	Inhibit	40555742
Bohring syndrome	Associate	32969603
Brain Ischemia	Associate	20840783
Cardiomyopathies	Associate	12952912, 18651846, 20124440, 20458009, 22194935, 23074333, 23861158, 26212819, 26507537, 26811534, 28669108, 28815794, 28973951, 33986259, 35067102 View all (6 more)
Cardiomyopathies	Stimulate	22685114, 26896474
Cardiomyopathy Dilated	Associate	15542288, 18651846, 19293840, 20031601, 20201937, 22292720, 22464770, 23586019, 24037902, 24119082, 24205113, 25110706, 26095046, 26400351, 26458567 View all (19 more)
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	26507537, 34853230
Cardiomyopathy Hypertrophic	Associate	12084606, 16199542, 18258667, 18651846, 19087273, 20031601, 20038417, 21896538, 22292720, 22429680, 22857948, 22869457, 23233322, 23396983, 23494605 View all (25 more)
Cardiomyopathy Hypertrophic Familial	Associate	12952912, 22112859, 22579624, 22857948, 35861968
Cardiomyopathy Restrictive	Associate	18651846, 30953456, 32098556, 35614389
Cardiovascular Diseases	Associate	23219305, 31014085
CD59 Deficiency	Associate	37692165
Chest Pain	Associate	32719074
Cognition Disorders	Associate	26884081
Colorectal Neoplasms	Stimulate	32627044
Coronary Disease	Associate	31746393
Coronary Occlusion	Associate	25999098
Crisponi syndrome	Associate	31748410
Death	Associate	21139111, 26494378, 28588090
Death	Stimulate	22277685
Death Sudden	Associate	12084606, 20038417, 23494605, 24119082, 26507537, 32098556
Death Sudden Cardiac	Associate	12952912, 23494605, 28669108, 37252999, 37787257
Diabetic Nephropathies	Associate	35637650
Down Syndrome	Associate	31201803
Fabry Disease	Associate	31308319
familial dilated cardiomyopathy	Associate	15542288, 18651846, 19412328, 24205113, 26498512, 33941202
Fibrosis	Stimulate	26999566
Genetic Diseases Inborn	Associate	26507537
Heart Diseases	Associate	21139111, 21962825, 23861158, 28669108, 33025817, 40430031
Heart Diseases	Stimulate	23924931, 23964755
Heart Failure	Associate	15542288, 20124440, 22685114, 23219305, 24119082, 28669108, 31014085, 33025817, 35861968
Hypertension	Associate	26494378
Hypertrophy	Associate	20038417
Hypertrophy Left Ventricular	Associate	18651846, 21139111
Hypertrophy Left Ventricular	Stimulate	23219305
Kidney Failure Chronic	Associate	26494378
Mitochondrial Diseases	Stimulate	23924931
Muscle Neoplasms	Associate	21962825
Muscular Diseases	Stimulate	21962825
Muscular Diseases	Associate	27803423, 29622161, 35389756
Myocardial Infarction	Associate	28588090, 28751286, 29475914, 35389756, 39395935
Myocardial Infarction	Stimulate	29622161
Myositis Inclusion Body	Stimulate	19813068
Myotonic Dystrophy	Associate	34371182
Necrosis	Associate	20840783
Neoplasms	Associate	33507690
Pericarditis Constrictive	Associate	35614389
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	24204736
Sarcoidosis	Associate	27803423
Signs and Symptoms	Associate	27803423
Syncope	Associate	28669108
Tricuspid Valve Insufficiency	Associate	31770195
Ventricular Dysfunction	Associate	26507537
Ventricular Dysfunction Left	Associate	24204736, 32098556, 34066613, 35861968
Ventricular Fibrillation	Associate	24119082
Wounds and Injuries	Associate	29691270

TNNT2 (troponin T2, cardiac type)