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: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy
disease Nervous System Diseases Disease or Syndrome 15 12 1.000 1.000 47 12 2004 2018
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
disease Nervous System Diseases Disease or Syndrome 1 5 0.740 1.000 10 5 2009 2017
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
disease Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 6 0.620 1.000 5 6 2006 2017
CUI: C2750220
Disease: Karak Syndrome
Karak Syndrome
disease Nervous System Diseases Disease or Syndrome 1 2 0.430 1.000 4 2 2006 2015
CUI: C0027960
Disease: Nevus
Nevus
disease Neoplasms Neoplastic Process 86 29 0.410 1.000 2 2 2009 2016
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 0.400 strong 0
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.360 strong 1.000 6 2 2012 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.360 1.000 6 1 2003 2016
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
group Mental Disorders Mental or Behavioral Dysfunction 316 113 0.310 1.000 1 2013 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.310 1.000 1 2013 2013
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis
disease Mental or Behavioral Dysfunction 219 60 0.310 1.000 1 2013 2013
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: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 24 31 0.240 0.750 10 2004 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 213 64 0.200 0.933 15 4 2009 2018
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 250 31 0.200 0.917 12 4 2009 2018
Other specified forms of pleural effusion, except tuberculous
disease Disease or Syndrome 15 0.200 1 2004 2004
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 547 293 0.200 1 2011 2011
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 744 41 0.180 0.875 8 2006 2017
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 189 6 0.140 1.000 4 2007 2018
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.130 0.667 6 3 2008 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.120 1.000 3 2 2008 2018
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Disease or Syndrome 337 21 0.110 1.000 1 2013 2013
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 740 143 0.110 1.000 1 2014 2014
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 499 33 0.110 1.000 1 2015 2015
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 564 52 0.110 1.000 1 2014 2014