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: C0234376
Disease: Action Tremor
Action Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.100 None 0
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2006 2006
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 2015 2015
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.020 None 1.000 2 2008 2019
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.020 None 1.000 2 2013 2018
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 218 11 0.100 None 0
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
phenotype Laboratory Procedure 90 174 0.100 None 1.000 1 1 2019 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.020 None 1.000 2 2012 2016
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.020 None 1.000 2 2008 2019
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.020 None 1.000 2 2012 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2011 2011
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.100 None 0
CUI: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases
group Nervous System Diseases Disease or Syndrome 156 5 0.010 None 1.000 1 2017 2017
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes
phenotype Finding 30 0.100 None 0
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.050 None 1.000 5 2008 2019
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
disease Nervous System Diseases Disease or Syndrome 354 33 0.200 None 1.000 1 2011 2011
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 143 6 0.100 None 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.010 None 1.000 1 2018 2018
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2018 2018
CUI: C0018213
Disease: Graves Disease
Graves Disease
disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 585 352 0.100 None 1.000 1 1 2012 2012
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2019 2019