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: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder)
disease Nervous System Diseases Disease or Syndrome 6 2 0.720 None 1.000 8 2 2008 2019
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.600 None 1.000 15 1 2008 2018
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.480 None 1.000 8 2008 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
group Nervous System Diseases Disease or Syndrome 167 37 0.400 None 1.000 11 1 2008 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.400 None 1.000 1 2011 2011
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 9 0.400 None 0
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
disease Nervous System Diseases Disease or Syndrome 26 3 0.310 None 1.000 2 2008 2009
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism
disease Nervous System Diseases Disease or Syndrome 34 3 0.300 None 1.000 1 2008 2008
Autosomal Dominant Juvenile Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2008 2008
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism
disease Nervous System Diseases Disease or Syndrome 33 1 0.300 None 1.000 1 2008 2008
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia
disease Nervous System Diseases Disease or Syndrome 21 8 0.300 None 1.000 1 2008 2008
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia
disease Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2008 2008
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 2011 2011
CUI: C0242423
Disease: Ramsay Hunt Paralysis Syndrome
Ramsay Hunt Paralysis Syndrome
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2008 2008
CUI: C0752101
Disease: Parkinsonism, Experimental
Parkinsonism, Experimental
disease Nervous System Diseases Experimental Model of Disease 28 0.300 None 1.000 1 2008 2008
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile
disease Nervous System Diseases Disease or Syndrome 40 2 0.300 None 1.000 1 2008 2008
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias
disease Nervous System Diseases Disease or Syndrome 9 2 0.300 None 1.000 1 2008 2008
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
disease Nervous System Diseases Disease or Syndrome 67 37 0.300 None 1.000 1 2008 2008
CUI: C0752208
Disease: Pseudodystonia
Pseudodystonia
disease Nervous System Diseases Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2008 2008
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 15 0.300 None 1.000 1 2008 2008
CUI: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2008 2008
CUI: C0752205
Disease: Dystonia, Secondary
Dystonia, Secondary
disease Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2008 2008
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease Nervous System Diseases Disease or Syndrome 19 5 0.300 None 1.000 1 2008 2008
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias
disease Nervous System Diseases Disease or Syndrome 13 8 0.300 None 1.000 1 2008 2008
Autosomal Recessive Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2008 2008