ATXN8, ataxin 8, 724066

N. diseases: 45; N. variants: 0
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: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 21 0.670 limited 1.000 8 1999 2019
CUI: C1836392
Disease: Dysmetric saccades
Dysmetric saccades
phenotype Finding 18 0.100 None 0
CUI: C1321329
Disease: Slowed saccades
Slowed saccades
phenotype Finding 29 4 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: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy
phenotype Finding 32 6 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0700198
Disease: Pulmonary aspiration
Pulmonary aspiration
phenotype Respiratory Tract Diseases Pathologic Function 13 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.100 None 0
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit
phenotype Finding 25 1 0.100 None 0
CUI: C1843921
Disease: Postural instability
Postural instability
phenotype Nervous System Diseases Finding 60 5 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
Morphological abnormality of the pyramidal tract
disease Anatomical Abnormality 18 0.100 None 0
CUI: C2827071
Disease: Unintentional Material Aspiration
Unintentional Material Aspiration
phenotype Finding 13 0.100 None 0
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration
phenotype Finding 18 8 0.100 None 0
CUI: C1963221
Disease: Aspiration, CTCAE
Aspiration, CTCAE
phenotype Finding 13 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons
phenotype Finding 30 3 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: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 1 0.100 None 0
CUI: C0040822
Disease: Tremor
Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0