TaoMedAI/RareMedData huggingface dataset:
Gene: TNNT1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Amish nemaline myopathy (ORPHA:98902)
Gene: TNNT1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Tremor (HP:0001337)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Tremor (HP:0001337)
Associated disease: Amish nemaline myopathy (ORPHA:98902)
Gene: TNNT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Amish nemaline myopathy (ORPHA:98902)
Gene: TNNT1
Phenotype: Floppy infant (HP:0008947)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Amish nemaline myopathy (ORPHA:98902)
Gene: TNNT1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Amish nemaline myopathy (ORPHA:98902)
Gene: TNNT1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Gowers sign (HP:0003391)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Gowers sign (HP:0003391)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Amish nemaline myopathy (ORPHA:98902)
Gene: TNNT1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Ankle contracture (HP:0034677)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Scapular winging (HP:0003691)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: Amish nemaline myopathy (ORPHA:98902)
Gene: TNNT1
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Difficulty running (HP:0009046)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Shoulder flexion contracture (HP:0003044)
Associated disease: Amish nemaline myopathy (ORPHA:98902)
Gene: TNNT1
Phenotype: Shoulder flexion contracture (HP:0003044)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Amish nemaline myopathy (ORPHA:98902)
Gene: TNNT1
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Myopathy (HP:0003198)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Elbow contracture (HP:0034391)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Hip contracture (HP:0003273)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Hip contracture (HP:0003273)
Associated disease: Amish nemaline myopathy (ORPHA:98902)
Gene: TNNT1
Phenotype: Hip contracture (HP:0003273)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Long face (HP:0000276)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Fatty replacement of ventricular myocardial tissue (HP:0031317)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: High palate (HP:0000218)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Slender build (HP:0001533)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT2
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNT2
Phenotype: Left axis deviation (HP:0033568)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (OMIM:612422)
Gene: TNNT2
Phenotype: Increased circulating brain natriuretic peptide concentration (HP:0033534)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Stroke (HP:0001297)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Syncope (HP:0001279)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 (OMIM:115195)
Gene: TNNT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TNNT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (OMIM:612422)
Gene: TNNT2
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Hypotension (HP:0002615)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (OMIM:612422)
Gene: TNNT2
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Dyspnea (HP:0002094)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 (OMIM:115195)
Gene: TNNT2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Pulmonary venous hypertension (HP:0030950)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNT2
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 (OMIM:115195)
Gene: TNNT2
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNT2
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 (OMIM:115195)
Gene: TNNT2
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Incomplete right bundle branch block (HP:6000313)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (OMIM:612422)
Gene: TNNT2
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 (OMIM:115195)
Gene: TNNT2
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (OMIM:612422)
Gene: TNNT2
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (OMIM:612422)
Gene: TNNT2
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 (OMIM:115195)
Gene: TNNT2
Phenotype: Fetal onset (HP:0011461)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNT2
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNT2
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (OMIM:612422)
Gene: TNNT2
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNT2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNT2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TNNT2
Phenotype: Abnormal ST segment (HP:0012249)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (OMIM:612422)
Gene: TNNT2
Phenotype: Ventricular septal hypertrophy (HP:0005144)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 (OMIM:115195)
Gene: TNNT2
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 (OMIM:115195)
Gene: TNNT2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Interstitial cardiac fibrosis (HP:0031329)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNT2
Phenotype: Myocardial sarcomeric disarray (HP:0031333)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (OMIM:612422)
Gene: TNNT2
Phenotype: Peripheral edema (HP:0012398)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNT2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TNNT2
Phenotype: Angina pectoris (HP:0001681)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 (OMIM:115195)
Gene: TNNT2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TNNT2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNT2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TNNT2
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 (OMIM:115195)
Gene: TNNT2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNT2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNT2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TNNT2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TNNT2
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNT2
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (OMIM:612422)
Gene: TNNT2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNT2
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Gene: TNNT3
Phenotype: Tapered finger (HP:0001182)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNT3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Round ear (HP:0100830)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNT3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNT3
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)