ATXN10, ataxin 10, 25814

N. diseases: 69; N. variants: 4
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: C4553976
Disease: Urinary Urgency, CTCAE 5
Urinary Urgency, CTCAE 5
phenotype Finding 34 0.100 None 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.100 None 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.100 None 0
CUI: C0278184
Disease: Scanning speech
Scanning speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 0.100 None 0
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position
disease Disease or Syndrome 26 2 0.100 None 0
Complex partial seizure with impairment of consciousness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 41 10 0.100 None 0
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 49 7 0.100 None 0
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 13 0.100 None 0
CUI: C0234376
Disease: Action Tremor
Action Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 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: C0700201
Disease: Dyssomnias
Dyssomnias
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 236 10 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 limited 0
EEG with generalized epileptiform discharges
phenotype Finding 6 4 0.100 None 0
Morphological abnormality of the pyramidal tract
disease Anatomical Abnormality 18 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity
phenotype Finding 58 5 0.100 None 0
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit
phenotype Finding 25 1 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C1836150
Disease: Gait imbalance
Gait imbalance
phenotype Finding 57 24 0.100 None 0
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 43 5 0.100 None 0