TaoMedAI/RareMedData huggingface dataset:
Gene: ATXN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Abnormal flash visual evoked potentials (HP:0007928)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Inertia (HP:0030216)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN2
Phenotype: Impaired horizontal smooth pursuit (HP:0001151)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Sporadic (HP:0003745)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Genetic anticipation (HP:0003743)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Olivopontocerebellar atrophy (HP:0002542)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Spinocerebellar tract degeneration (HP:0002503)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Cerebellar Purkinje layer atrophy (HP:0012082)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Dystonia (HP:0001332)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Urinary urgency (HP:0000012)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Myoclonus (HP:0001336)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Abnormal cell morphology (HP:0025461)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Constipation (HP:0002019)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Dysphagia (HP:0002015)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Rigidity (HP:0002063)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Chorea (HP:0002072)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Postural tremor (HP:0002174)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Postural tremor (HP:0002174)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Postural instability (HP:0002172)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Insidious onset (HP:0003587)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Late onset (HP:0003584)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Late onset (HP:0003584)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Adult onset (HP:0003581)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Spinal cord posterior columns myelin loss (HP:0008311)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Fasciculations (HP:0002380)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Action tremor (HP:0002345)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Progressive (HP:0003676)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Supranuclear ophthalmoplegia (HP:0000623)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Olivopontocerebellar hypoplasia (HP:0006955)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Micrographia (HP:0031908)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Personality changes (HP:0000751)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Hallucinations (HP:0000738)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Dementia (HP:0000726)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Dementia (HP:0000726)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Lewy bodies (HP:0100315)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Abnormality of the spinocerebellar tracts (HP:0003133)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Abnormal substantia nigra morphology (HP:0045007)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Mask-like facies (HP:0000298)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Kinetic tremor (HP:0030186)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Weak voice (HP:0001621)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN2
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Gene: ATXN2
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN2
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Gene: ATXN2
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ATXN7
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATXN7
Phenotype: Genetic anticipation with paternal anticipation bias (HP:0003744)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Motor delay (HP:0001270)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Ataxia (HP:0001251)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Olivopontocerebellar atrophy (HP:0002542)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Hemeralopia (HP:0012047)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATXN7
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATXN7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Dysmetria (HP:0001310)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATXN7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)