TaoMedAI/RareMedData huggingface dataset:
Gene: TPI1
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPM1
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TPM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (OMIM:115196)
Gene: TPM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TPM1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TPM1
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Late onset (HP:0003584)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Fetal onset (HP:0011461)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TPM1
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TPM1
Phenotype: Ebstein anomaly of the tricuspid valve (HP:0010316)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TPM1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TPM1
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TPM1
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TPM1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (OMIM:115196)
Gene: TPM1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TPM1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (OMIM:115196)
Gene: TPM1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TPM1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Gene: TPM1
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TPM1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TPM2
Phenotype: Hand clenching (HP:0001188)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
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: TPM2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TPM2
Phenotype: Bulbar signs (HP:0002483)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Ulnar deviation of the hand or of fingers of the hand (HP:0001193)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Poor head control (HP:0002421)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Poor head control (HP:0002421)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Motor delay (HP:0001270)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Motor delay (HP:0001270)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Motor delay (HP:0001270)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Motor delay (HP:0001270)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Areflexia (HP:0001284)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Areflexia (HP:0001284)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
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: TPM2
Phenotype: Seizure (HP:0001250)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Fiber type grouping (HP:0033685)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Waddling gait (HP:0002515)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Waddling gait (HP:0002515)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Waddling gait (HP:0002515)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Falls (HP:0002527)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
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: TPM2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TPM2
Phenotype: Facial diplegia (HP:0001349)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
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: TPM2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TPM2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
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: TPM2
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Dysphagia (HP:0002015)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Neuromuscular dysphagia (HP:0002068)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Gowers sign (HP:0003391)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Gowers sign (HP:0003391)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
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: TPM2
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TPM2
Phenotype: Long nasal bridge (HP:0033142)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
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: TPM2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TPM2
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
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: TPM2
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TPM2
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Intercostal muscle weakness (HP:0004878)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Stiff shoulders (HP:0009742)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Schizophrenia (HP:0100753)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
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: TPM2
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Absent distal interphalangeal creases (HP:0001032)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Scapular winging (HP:0003691)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Scapular winging (HP:0003691)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)