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: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.010 None 1.000 1 2018 2018
CUI: C0920299
Disease: Overriding toe
Overriding toe 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 47 13 0.100 None 0 1
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Anatomical Abnormality 16 2 0.100 None 0
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2018 2018
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.020 None 1.000 2 2004 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 2019 2019
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.010 None 1.000 1 2019 2019
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 100 4 0.010 None 1.000 1 2017 2017
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0 1
CUI: C0431447
Disease: Synophrys
Synophrys 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0 1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0 1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 0.938 16 2 2002 2019
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.100 None 1.000 14 1 1997 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 1.000 13 3 2002 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.090 None 1.000 9 2017 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.650 None 0.875 8 1 2004 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.070 None 1.000 7 2017 2019
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.050 None 0.800 5 2007 2019
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.140 None 1.000 4 2018 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.040 None 1.000 4 2008 2018
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		disease Disease or Syndrome 1 12 0.700 strong 1.000 4 12 2014 2017
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		group Nervous System Diseases Disease or Syndrome 345 10 0.030 None 1.000 3 2017 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.030 None 1.000 3 2017 2019
CUI: C0751074
Disease: Diabetic Neuralgia
Diabetic Neuralgia 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 36 0.030 None 1.000 3 2019 2020
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		disease Nervous System Diseases Disease or Syndrome 354 33 0.020 None 1.000 2 2012 2016