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: C1832585
Disease: CEREBELLAR ATAXIA, CAYMAN TYPE
CEREBELLAR ATAXIA, CAYMAN TYPE
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.810 1.000 2 2003 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.310 limited 1.000 2 2003 2007
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 166 0.300 strong 0
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
group Nervous System Diseases Disease or Syndrome 134 25 0.240 1.000 4 2003 2013
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 250 31 0.240 1.000 4 2003 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 82 5 0.100 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 499 33 0.100 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype Finding 33 2 0.100 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 281 19 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C4020856
Disease: Terminal tremor
Terminal tremor
phenotype Finding 30 1 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C0234376
Disease: Action Tremor
Action Tremor
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 53 1 0.100 0
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 1981 1062 0.040 1.000 4 2002 2010
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 832 120 0.030 1.000 3 2004 2010
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 207 27 0.030 1.000 3 2003 2007
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 564 52 0.030 1.000 3 2003 2007
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 300 27 0.020 1.000 2 2002 2010
CUI: C0234366
Disease: Ataxic
Ataxic
phenotype Sign or Symptom 32 6 0.020 1.000 2 2003 2013
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 234 23 0.020 1.000 2 2002 2010
CUI: C0004936
Disease: Mental disorders
Mental disorders
group Mental Disorders Mental or Behavioral Dysfunction 328 77 0.010 1.000 1 2007 2007
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases
group Nervous System Diseases Disease or Syndrome 41 1 0.010 1.000 1 2013 2013
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.010 1.000 1 2007 2007