ATXN1, ataxin 1, 6310

N. diseases: 218; N. variants: 24
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0234518
Disease: Slurred speech
Slurred speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 39 10 0.100 None 0
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		phenotype Finding 28 1 0.100 None 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype Sign or Symptom 116 7 0.100 None 0
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.100 None 0
CUI: C1836392
Disease: Dysmetric saccades
Dysmetric saccades 		phenotype Finding 18 0.100 None 0
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype Finding 57 24 0.100 None 0
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 15 3 0.100 None 0
CUI: C3809827
Disease: Staring gaze
Staring gaze 		phenotype Finding 16 1 0.100 None 0
CUI: C4021577
Disease: Abnormality of somatosensory evoked potentials
Abnormality of somatosensory evoked potentials 		phenotype Anatomical Abnormality 4 1 0.100 None 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		phenotype Anatomical Abnormality 17 0.100 None 0
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 8 0.100 None 0
CUI: C0008489
Disease: Chorea
Chorea 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 168 20 0.100 None 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 61 4 0.100 None 0
CUI: C4025574
Disease: Genetic anticipation with paternal anticipation bias
Genetic anticipation with paternal anticipation bias 		phenotype Pathological Conditions, Signs and Symptoms Finding 2 0.100 None 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
CUI: C4024953
Disease: Dorsal column degeneration
Dorsal column degeneration 		phenotype Pathologic Function 1 0.100 None 0
CUI: C1408507
Disease: Supranuclear ophthalmoplegia
Supranuclear ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 99 2 0.100 None 0
CUI: C4024943
Disease: Decreased amplitude of sensory action potentials
Decreased amplitude of sensory action potentials 		phenotype Finding 3 0.100 None 0
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		disease Nervous System Diseases Disease or Syndrome 48 5 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C4022575
Disease: Inertia
Inertia 		phenotype Finding 4 0.100 None 0
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		phenotype Finding 29 4 0.100 None 0
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		phenotype Finding 108 0.100 None 0