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: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 9 0.800 None 1.000 14 9 2006 2020
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.370 None 1.000 8 2004 2017
CUI: C2932678
Disease: Inherited Peripheral Neuropathy
Inherited Peripheral Neuropathy
disease Nervous System Diseases Disease or Syndrome 14 0.300 None 1.000 1 2012 2012
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.300 None 1.000 1 2012 2012
TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)
phenotype Finding 12 0.300 None 1.000 1 2011 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.300 None 1.000 1 2009 2009
CUI: C4521481
Disease: Pseudomyotonia (finding)
Pseudomyotonia (finding)
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 0.300 None 0
CUI: C0751919
Disease: Acquired Neuromyotonia
Acquired Neuromyotonia
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.120 None 1.000 2 2015 2017
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness
phenotype Nervous System Diseases Sign or Symptom 92 6 0.100 None 0
CUI: C0221373
Disease: Claw hand
Claw hand
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 63 3 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
Distal sensory impairment of all modalities
phenotype Finding 9 0.100 None 0
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy
disease Disease or Syndrome 29 8 0.100 None 0
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C0037763
Disease: Spasm
Spasm
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.100 None 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy
phenotype Finding 23 1 0.100 None 0 1
CUI: C0270790
Disease: Quadriparesis
Quadriparesis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 5 0.100 None 0
CUI: C0684219
Disease: Myokymia
Myokymia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 2 0.100 None 0
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 51 5 0.100 None 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance
phenotype Finding 76 7 0.100 None 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles
disease Anatomical Abnormality 32 6 0.100 None 0
Flexion contracture of proximal interphalangeal joint
phenotype Finding 168 7 0.100 None 0