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: C0023211
Disease: Left Bundle-Branch Block
Left Bundle-Branch Block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 2019 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.020 None 1.000 2 2018 2018
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.020 None 1.000 2 2018 2018
CUI: C1846492
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 11 0.700 None 1.000 2 11 2018 2018
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.110 None 1.000 1 2018 2018
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2018 2018
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.010 None 1.000 1 2018 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2018 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.110 None 1.000 1 2018 2018
CUI: C3897558
Disease: Soluble Interleukin 6 Receptor Measurement
Soluble Interleukin 6 Receptor Measurement 		phenotype Laboratory Procedure 17 25 0.100 None 1.000 1 1 2015 2015
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.100 None 1.000 1 1 2014 2014
CUI: C0043094
Disease: Weight Gain
Weight Gain 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.300 None 1.000 1 2008 2008
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		disease Nervous System Diseases Disease or Syndrome 94 12 0.100 None 0
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.100 None 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease Disease or Syndrome 106 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: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
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: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 94 4 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C0585556
Disease: Macrosaccadic oscillations
Macrosaccadic oscillations 		phenotype Finding 1 0.100 None 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0