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: C0016202
Disease: Flatfoot
Flatfoot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 218 48 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.100 None 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.400 None 1.000 12 2003 2020
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.040 None 1.000 4 2008 2018
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 89 17 0.230 None 1.000 4 1 2004 2020
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.130 None 1.000 3 2 2014 2018
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		disease Disease or Syndrome 1 9 0.700 None 1.000 3 9 2014 2018
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.310 None 1.000 2 2003 2005
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		disease Nervous System Diseases Disease or Syndrome 354 33 0.210 None 1.000 2 2003 2011
CUI: C0037052
Disease: Sick Sinus Syndrome
Sick Sinus Syndrome 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 51 7 0.210 None 1.000 2 2013 2020
CUI: C0270824
Disease: Visual seizure
Visual seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.500 None 1.000 2 2008 2010
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.020 None 1.000 2 2017 2018
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 250 7 0.310 None 1.000 2 2010 2012
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease Nervous System Diseases Disease or Syndrome 53 122 0.320 None 1.000 2 2014 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2012 2012
CUI: C0011406
Disease: Dental Pulp Exposure
Dental Pulp Exposure 		disease Stomatognathic Diseases Disease or Syndrome 7 0.200 None 1.000 1 2007 2007
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.010 None 1.000 1 2007 2007
CUI: C0022333
Disease: Jacksonian Seizure
Jacksonian Seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2010 2010
CUI: C0025289
Disease: Meningitis
Meningitis 		disease Nervous System Diseases Disease or Syndrome 191 13 0.200 None 1.000 1 2009 2009
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 320 33 0.010 None 1.000 1 2018 2018
CUI: C0030552
Disease: Paresis
Paresis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 216 49 0.010 None 1.000 1 2020 2020
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2016 2016