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: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		disease Disease or Syndrome 1 8 0.600 strong 1.000 1 8 2018 2018
CUI: C0270860
Disease: Basilar-Type Migraine
Basilar-Type Migraine 		disease Nervous System Diseases Disease or Syndrome 3 3 0.010 None 1.000 1 1 2017 2017
CUI: C0201534
Disease: Antiphospholipid antibodies measurement
Antiphospholipid antibodies measurement 		phenotype Laboratory Procedure 6 8 0.100 None 1.000 1 1 2016 2016
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum 		disease Nervous System Diseases Disease or Syndrome 21 2 0.100 None 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 31 3 0.300 strong 1.000 1 2018 2018
CUI: C0349231
Disease: Phobic anxiety disorder
Phobic anxiety disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 31 7 0.010 None 1.000 1 2018 2018
CUI: C0338480
Disease: Common Migraine
Common Migraine 		disease Nervous System Diseases Disease or Syndrome 77 62 0.020 None 1.000 2 2007 2017
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 80 6 0.100 None 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 85 29 0.100 None 1.000 1 1 2018 2018
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 86 7 0.100 None 0
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		disease Nervous System Diseases Disease or Syndrome 87 56 0.020 None 1.000 2 1 2007 2017
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		disease Disease or Syndrome 88 14 0.020 None 1.000 2 2007 2012
CUI: C0030201
Disease: Pain, Postoperative
Pain, Postoperative 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 102 14 0.010 None 1.000 1 1 2016 2016
CUI: C0009917
Disease: Contracture
Contracture 		disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.010 None 1.000 1 2018 2018
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 136 27 0.100 None 0
CUI: C0018834
Disease: Heartburn
Heartburn 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 139 5 0.010 None 1.000 1 2018 2018
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype Nervous System Diseases Finding 152 7 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 158 1 0.100 None 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.110 None 1.000 1 2018 2018
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.100 None 0
CUI: C0008354
Disease: Cholera
Cholera 		disease Infections Disease or Syndrome 209 1 0.010 None 1.000 1 2001 2001
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 221 82 0.010 None 1.000 1 2019 2019
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0