TaoMedAI/RareMedData huggingface dataset:
Gene: SURF1
Phenotype: Glycosuria (HP:0003076)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: High palate (HP:0000218)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Increased hepatocellular lipid droplets (HP:0006565)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SVIL
Phenotype: Increased circulating troponin I concentration (HP:0410173)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Postexertional symptom exacerbation (HP:0030973)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Myalgia (HP:0003326)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Percussion myotonia (HP:0010548)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Increased QRS voltage (HP:0025075)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Kyphosis (HP:0002808)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Broad neck (HP:0000475)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: SVIL
Phenotype: Sandal gap (HP:0001852)
Associated disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Gene: VAMP1
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Poor head control (HP:0002421)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Poor head control (HP:0002421)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Hypertonia (HP:0001276)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Motor delay (HP:0001270)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Areflexia (HP:0001284)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Areflexia (HP:0001284)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Seizure (HP:0001250)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Seizure (HP:0001250)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Ataxia (HP:0001251)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Dystonia (HP:0001332)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Tremor (HP:0001337)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Staring gaze (HP:0025401)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Poor suck (HP:0002033)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Frontalis muscle weakness (HP:0004661)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Episodic respiratory distress (HP:0004885)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Memory impairment (HP:0002354)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Memory impairment (HP:0002354)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Diplopia (HP:0000651)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Jerky head movements (HP:0006961)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Myopathy (HP:0003198)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Narrow jaw (HP:0012801)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Choking episodes (HP:0030842)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Stridor (HP:0010307)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: EMG: impaired neuromuscular transmission (HP:0100285)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Cyanosis (HP:0000961)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Long face (HP:0000276)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Kyphosis (HP:0002808)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: High palate (HP:0000218)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Weak cry (HP:0001612)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Abnormal cerebrospinal fluid morphology (HP:0002921)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Limited extraocular movements (HP:0007941)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Strabismus (HP:0000486)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Gene: VAMP1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Ptosis (HP:0000508)
Associated disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Gene: VAMP1
Phenotype: Ptosis (HP:0000508)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP1
Phenotype: Ptosis (HP:0000508)
Associated disease: SPAX1; Autosomal dominant spastic ataxia type 1 (ORPHA:251282)
Gene: VAMP1
Phenotype: Esotropia (HP:0000565)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: VAMP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)