TaoMedAI/RareMedData huggingface dataset:
Gene: TTN
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Minicore myopathy (HP:0003789)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TTN
Phenotype: Poor head control (HP:0002421)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)
Gene: TTN
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Myofibrillar myopathy (HP:0003715)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Long fingers (HP:0100807)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Motor delay (HP:0001270)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Areflexia (HP:0001284)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: TTN
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Waddling gait (HP:0002515)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Falls (HP:0002527)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334)
Gene: TTN
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334)
Gene: TTN
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Limited hip movement (HP:0008800)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)
Gene: TTN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1G (OMIM:604145)
Gene: TTN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 (OMIM:613765)
Gene: TTN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334)
Gene: TTN
Phenotype: Scoliosis (HP:0002650)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Necrotizing myopathy (HP:0008978)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Tibialis muscle weakness (HP:0008963)
Associated disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334)
Gene: TTN
Phenotype: Tibialis muscle weakness (HP:0008963)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Internally nucleated skeletal muscle fibers (HP:0031237)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Limited neck flexion (HP:0005991)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Dyspnea (HP:0002094)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: TTN
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Gowers sign (HP:0003391)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Steppage gait (HP:0003376)
Associated disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334)
Gene: TTN
Phenotype: Steppage gait (HP:0003376)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TTN
Phenotype: Atrioventricular reentrant tachycardia (HP:0011717)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TTN
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)
Gene: TTN
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334)
Gene: TTN
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARDIOMYOPATHY, DILATED, 1G (OMIM:604145)
Gene: TTN
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1G (OMIM:604145)
Gene: TTN
Phenotype: Infantile onset (HP:0003593)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Adult onset (HP:0003581)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 (OMIM:613765)
Gene: TTN
Phenotype: Adult onset (HP:0003581)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Adult onset (HP:0003581)
Associated disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334)
Gene: TTN
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)
Gene: TTN
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: TTN
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)
Gene: TTN
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334)
Gene: TTN
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)
Gene: TTN
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: TTN
Phenotype: Facial palsy (HP:0010628)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Scapular winging (HP:0003691)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Scapular winging (HP:0003691)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Frequent falls (HP:0002359)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Progressive (HP:0003676)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)
Gene: TTN
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Slowly progressive (HP:0003677)
Associated disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334)
Gene: TTN
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: TTN
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Clumsiness (HP:0002312)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Tibialis anterior muscle atrophy (HP:0011399)
Associated disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334)
Gene: TTN
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: TTN
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: TTN
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Difficulty running (HP:0009046)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Difficulty running (HP:0009046)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Peroneal muscle atrophy (HP:0009049)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1G (OMIM:604145)
Gene: TTN
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)