TaoMedAI/RareMedData huggingface dataset:
Gene: SNAP25
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Nystagmus (HP:0000639)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Diplopia (HP:0000651)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Third trimester onset (HP:0034197)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Narrow jaw (HP:0012801)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Choking episodes (HP:0030842)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Stridor (HP:0010307)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: EMG: impaired neuromuscular transmission (HP:0100285)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Cyanosis (HP:0000961)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Long face (HP:0000276)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: High palate (HP:0000218)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Dysphonia (HP:0001618)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Weak cry (HP:0001612)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Low-set ears (HP:0000369)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Pes cavus (HP:0001761)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Ptosis (HP:0000508)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Esotropia (HP:0000565)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNCB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: SNCB
Phenotype: Parkinsonism (HP:0001300)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: SNCB
Phenotype: Visual hallucination (HP:0002367)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: SNCB
Phenotype: Fluctuations in consciousness (HP:0007159)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: SNCB
Phenotype: Delusion (HP:0000746)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: SNCB
Phenotype: Dementia (HP:0000726)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: SNCB
Phenotype: Lewy bodies (HP:0100315)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: SNAPC4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Drooling (HP:0002307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Cognitive regression (HP:0034332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Motor regression (HP:0033044)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNAPC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Gene: SNCA
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Panic attack (HP:0025269)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT (OMIM:605543)
Gene: SNCA
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Mental deterioration (HP:0001268)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Spasticity (HP:0001257)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Spasticity (HP:0001257)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Dystonia (HP:0001332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Dystonia (HP:0001332)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Dystonia (HP:0001332)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Urinary urgency (HP:0000012)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Tremor (HP:0001337)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: SNCA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT (OMIM:605543)
Gene: SNCA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Myoclonus (HP:0001336)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Myoclonus (HP:0001336)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT (OMIM:605543)
Gene: SNCA
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Parkinsonism (HP:0001300)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: SNCA
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Nausea (HP:0002018)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Constipation (HP:0002019)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Diarrhea (HP:0002014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Dysphagia (HP:0002015)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Dysphagia (HP:0002015)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Intention tremor (HP:0002080)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Rigidity (HP:0002063)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Rigidity (HP:0002063)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Babinski sign (HP:0003487)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Gliosis (HP:0002171)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Gliosis (HP:0002171)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Postural instability (HP:0002172)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Postural instability (HP:0002172)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Postural instability (HP:0002172)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Middle age onset (HP:0003596)
Associated disease: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT (OMIM:605543)
Gene: SNCA
Phenotype: Insidious onset (HP:0003587)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Late onset (HP:0003584)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Impulsivity (HP:0100710)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Impulsivity (HP:0100710)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Insomnia (HP:0100785)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Paranoia (HP:0011999)
Associated disease: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT (OMIM:605543)
Gene: SNCA
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Visual hallucination (HP:0002367)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: SNCA
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Shuffling gait (HP:0002362)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Hypokinesia (HP:0002375)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Progressive (HP:0003676)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT (OMIM:605543)
Gene: SNCA
Phenotype: Resting tremor (HP:0002322)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Fluctuations in consciousness (HP:0007159)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: SNCA
Phenotype: Akinesia (HP:0002304)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Diplopia (HP:0000651)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Diplopia (HP:0000651)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Micrographia (HP:0031908)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Hallucinations (HP:0000738)
Associated disease: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT (OMIM:605543)
Gene: SNCA
Phenotype: Hallucinations (HP:0000738)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Hallucinations (HP:0000738)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Anxiety (HP:0000739)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Short attention span (HP:0000736)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Delusion (HP:0000746)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: SNCA
Phenotype: Apathy (HP:0000741)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Apathy (HP:0000741)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Depression (HP:0000716)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)