TaoMedAI/RareMedData huggingface dataset:
Gene: TNNC1
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 (OMIM:613243)
Gene: TNNC1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNC1
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNC1
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNC1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNC1
Phenotype: ST segment depression (HP:0012250)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 (OMIM:613243)
Gene: TNNC1
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 (OMIM:613243)
Gene: TNNC1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNC1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 (OMIM:613243)
Gene: TNNC1
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNC1
Phenotype: Concentric hypertrophic cardiomyopathy (HP:0005157)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 (OMIM:613243)
Gene: TNNC1
Phenotype: Angina pectoris (HP:0001681)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 (OMIM:613243)
Gene: TNNC1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, DILATED, 1Z (OMIM:611879)
Gene: TNNC1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNC1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1Z (OMIM:611879)
Gene: TNNC1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 (OMIM:613243)
Gene: TNNC1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 (OMIM:613243)
Gene: TNNC1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNC1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1Z (OMIM:611879)
Gene: TNNC1
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNI2
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: TNNI2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNI2
Phenotype: Ulnar deviation of the hand or of fingers of the hand (HP:0001193)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
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: TNNI2
Phenotype: Absent phalangeal crease (HP:0006109)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
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: TNNI2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNI2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
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: TNNI2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNI2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
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: TNNI2
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: TNNI2
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNI2
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNI2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNI2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNI2
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNI2
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNI2
Phenotype: Short stature (HP:0004322)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNI2
Phenotype: Short stature (HP:0004322)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNI2
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNI2
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNI2
Phenotype: Narrow face (HP:0000275)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNI2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: High palate (HP:0000218)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: High palate (HP:0000218)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNI2
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNI2
Phenotype: Long philtrum (HP:0000343)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNI2
Phenotype: Triangular face (HP:0000325)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Short neck (HP:0000470)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNI2
Phenotype: Webbed neck (HP:0000465)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Webbed neck (HP:0000465)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNI2
Phenotype: Protruding ear (HP:0000411)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNI2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNI2
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNI2
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Abnormality of the ear (HP:0000598)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Gene: TNNI2
Phenotype: Talipes (HP:0001883)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNI3
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNI3
Phenotype: Stroke (HP:0001297)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Syncope (HP:0001279)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, DILATED, 2A (OMIM:611880)
Gene: TNNI3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1FF (OMIM:613286)
Gene: TNNI3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (OMIM:115210)
Gene: TNNI3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 (OMIM:613690)
Gene: TNNI3
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1FF (OMIM:613286)
Gene: TNNI3
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 2A (OMIM:611880)
Gene: TNNI3
Phenotype: Death in middle age (HP:0033764)
Associated disease: CARDIOMYOPATHY, DILATED, 1FF (OMIM:613286)
Gene: TNNI3
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (OMIM:115210)
Gene: TNNI3
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Pulmonary venous hypertension (HP:0030950)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNI3
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (OMIM:115210)
Gene: TNNI3
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNI3
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1FF (OMIM:613286)
Gene: TNNI3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Adult onset (HP:0003581)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 (OMIM:613690)
Gene: TNNI3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, DILATED, 1FF (OMIM:613286)
Gene: TNNI3
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: CARDIOMYOPATHY, DILATED, 1FF (OMIM:613286)
Gene: TNNI3
Phenotype: Apical hypertrophic cardiomyopathy (HP:0031992)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 (OMIM:613690)
Gene: TNNI3
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 2A (OMIM:611880)
Gene: TNNI3
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1FF (OMIM:613286)
Gene: TNNI3
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNI3
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNI3
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNI3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNI3
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 (OMIM:613690)
Gene: TNNI3
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Myofiber disarray (HP:0031318)
Associated disease: CARDIOMYOPATHY, DILATED, 2A (OMIM:611880)
Gene: TNNI3
Phenotype: Cardiomyocyte hypertrophy (HP:0031319)
Associated disease: CARDIOMYOPATHY, DILATED, 2A (OMIM:611880)
Gene: TNNI3
Phenotype: Interstitial cardiac fibrosis (HP:0031329)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNI3
Phenotype: Peripheral edema (HP:0012398)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNI3
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (OMIM:115210)
Gene: TNNI3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNI3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 2A (OMIM:611880)
Gene: TNNI3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1FF (OMIM:613286)
Gene: TNNI3
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 (OMIM:613690)
Gene: TNNI3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: TNNI3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNI3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 2A (OMIM:611880)
Gene: TNNI3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1FF (OMIM:613286)
Gene: TNNI3
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNI3
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (OMIM:115210)
Gene: TNNI3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TNNI3
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 (OMIM:613690)
Gene: TNNI3
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (OMIM:115210)
Gene: TNNI3
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 (OMIM:613690)
Gene: TNNT1
Phenotype: Minicore myopathy (HP:0003789)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Z-band streaming (HP:0020203)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Gene: TNNT1
Phenotype: Poor head control (HP:0002421)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Gene: TNNT1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Motor delay (HP:0001270)
Associated disease: Amish nemaline myopathy (ORPHA:98902)
Gene: TNNT1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Areflexia (HP:0001284)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Gene: TNNT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Amish nemaline myopathy (ORPHA:98902)
Gene: TNNT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEMALINE MYOPATHY 5 (OMIM:605355)