TaoMedAI/RareMedData huggingface dataset:
Gene: TPM3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Facial diplegia (HP:0001349)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Dysphagia (HP:0002015)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Dysphagia (HP:0002015)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Neuromuscular dysphagia (HP:0002068)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Gowers sign (HP:0003391)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Myopathic facies (HP:0002058)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Intercostal muscle weakness (HP:0004878)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Facial palsy (HP:0010628)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Facial palsy (HP:0010628)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Scapular winging (HP:0003691)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Frequent falls (HP:0002359)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Headache (HP:0002315)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Central hypoventilation (HP:0007110)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Clumsiness (HP:0002312)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Difficulty running (HP:0009046)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Dental crowding (HP:0000678)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Weakness of muscles of respiration (HP:0004347)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Narrow chest (HP:0000774)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Myopathy (HP:0003198)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Hip contracture (HP:0003273)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Pes valgus (HP:0008081)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Narrow face (HP:0000275)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Narrow face (HP:0000275)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Narrow face (HP:0000275)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Long face (HP:0000276)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Long face (HP:0000276)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Long face (HP:0000276)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Long face (HP:0000276)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Long face (HP:0000276)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: High palate (HP:0000218)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: High palate (HP:0000218)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: High palate (HP:0000218)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: High palate (HP:0000218)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Slender build (HP:0001533)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Fatigue (HP:0012378)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Impaired mastication (HP:0005216)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Hoarse voice (HP:0001609)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Weak cry (HP:0001612)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Low-set ears (HP:0000369)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Long philtrum (HP:0000343)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Micrognathia (HP:0000347)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Cor pulmonale (HP:0001648)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Breech presentation (HP:0001623)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Premature birth (HP:0001622)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Reduced systolic function (HP:0006673)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Pes planus (HP:0001763)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Hypercapnia (HP:0012416)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Hypoxemia (HP:0012418)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Pes cavus (HP:0001761)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Pes cavus (HP:0001761)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Weight loss (HP:0001824)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Ptosis (HP:0000508)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Ptosis (HP:0000508)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)
Gene: TPM4
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)
Gene: TPM4
Phenotype: Menorrhagia (HP:0000132)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)
Gene: TPM4
Phenotype: Post-partum hemorrhage (HP:0011891)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)
Gene: TPM4
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)
Gene: TPM4
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)
Gene: TPM4
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)
Gene: TPM4
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)