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: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.480 None 1.000 9 1999 2020
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 167 37 0.080 None 1.000 8 1999 2020
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 89 17 0.760 strong 1.000 7 1996 2020
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.050 None 1.000 5 2011 2020
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 55 10 0.140 None 1.000 4 1 2002 2020
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		disease Eye Diseases Disease or Syndrome 94 74 0.430 None 1.000 3 1 2015 2020
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.020 None 1.000 2 2015 2020
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 33 13 0.310 None 1.000 2 2007 2020
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 88 11 0.010 None 1.000 1 2020 2020
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 13 60 1.000 None 0.988 84 60 1996 2019
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 64 11 1.000 None 0.986 72 11 1997 2019
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		disease Nervous System Diseases Disease or Syndrome 24 17 0.100 None 1.000 65 6 1997 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.400 None 1.000 47 10 1997 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.500 None 1.000 38 6 1997 2019
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group Nervous System Diseases Disease or Syndrome 512 264 0.200 None 0.969 32 6 1998 2019
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.400 None 1.000 28 1997 2019
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.200 None 0.900 10 3 1997 2019
CUI: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.060 None 1.000 6 2002 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.050 None 1.000 5 1998 2019
CUI: C0018991
Disease: Hemiplegia
Hemiplegia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 41 6 0.140 None 1.000 4 1999 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.140 None 1.000 4 2016 2019
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.130 None 0.667 3 2003 2019
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		disease Nervous System Diseases Disease or Syndrome 122 79 0.010 None 1.000 1 2019 2019
CUI: C0155502
Disease: Benign Paroxysmal Positional Vertigo
Benign Paroxysmal Positional Vertigo 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 1 2019 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 2019 2019