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.
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
disease Nervous System Diseases Disease or Syndrome 6 23 0.620 1.000 24 17 1995 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.550 1.000 7 1998 2016
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 250 31 0.500 0.917 22 1 1989 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 213 64 0.500 1.000 13 1 1994 2012
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 574 137 0.500 0.800 5 2002 2014
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
group Neoplasms Neoplastic Process 1698 288 0.400 0.966 60 1989 2015
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.400 0.600 25 1987 2003
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 335 91 0.400 0.600 14 1990 2014
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease Neoplasms Neoplastic Process 279 125 0.400 1.000 12 1985 2016
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 25 0.400 1 2006 2006
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 423 323 0.360 0.600 6 1994 2005
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
group Nervous System Diseases Disease or Syndrome 249 14 0.340 1.000 5 1995 2014
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 18 0.330 1.000 4 1989 2012
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 233 19 0.330 1.000 4 1995 2014
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile
disease Nervous System Diseases Disease or Syndrome 41 3 0.320 1.000 4 1991 2001
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 740 143 0.310 0.800 6 2000 2014
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 512 210 0.310 1.000 4 1991 2013
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 516 378 0.310 1.000 4 1991 2013
CUI: C0011206
Disease: Delirium
Delirium
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 44 6 0.310 1.000 2 1998 2005
CUI: C0221480
Disease: Recurrent depression
Recurrent depression
disease Mental or Behavioral Dysfunction 15 8 0.310 1.000 1 1991 1991
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.300 0.974 43 1 1989 2017
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
disease Nervous System Diseases Disease or Syndrome 95 28 0.300 2 1997 2001
CUI: C0023186
Disease: Learning Disorders
Learning Disorders
group Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 35 1 0.300 2 1999 2000
CUI: C0233612
Disease: Waxy flexibility
Waxy flexibility
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 15 0.300 2 1999 2000
CUI: C1330966
Disease: Developmental Academic Disorder
Developmental Academic Disorder
phenotype Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 29 0.300 2 1999 2000