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.
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 3 0.700 None 1.000 4 3 2004 2017
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)
disease Disease or Syndrome 3 2 0.610 strong 1.000 2 2 2012 2013
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 18 0.420 strong 1.000 5 1 2016 2018
Distal Hereditary Motor Neuropathy, Type II
disease Nervous System Diseases Disease or Syndrome 8 2 0.390 None 1.000 9 2 1992 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.310 None 1.000 1 2011 2011
Spinal muscular atrophy, Jerash type
disease Nervous System Diseases Disease or Syndrome 5 5 0.300 None 1.000 1 2004 2004
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy
disease Nervous System Diseases Disease or Syndrome 64 20 0.200 None 1.000 13 2 2000 2018
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 0.200 None 1.000 10 2 2005 2018
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.130 None 1.000 6 1 2016 2018
CUI: C0024031
Disease: Low Back Pain
Low Back Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 88 11 0.100 None 1.000 3 1 2016 2018
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone
phenotype Nervous System Diseases Finding 14 7 0.100 None 1.000 3 1 2016 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 1.000 3 1 2016 2018
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 74 15 0.100 None 1.000 3 1 2016 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.100 None 1.000 3 1 2016 2018
CUI: C1836150
Disease: Gait imbalance
Gait imbalance
phenotype Finding 57 24 0.100 None 1.000 3 1 2016 2018
CUI: C0023798
Disease: Lipoma
Lipoma
disease Neoplasms Neoplastic Process 87 9 0.100 None 1.000 3 1 2016 2018
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy
phenotype Finding 12 1 0.100 None 1.000 3 1 2016 2018
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 29 3 0.100 None 1.000 3 1 2016 2018
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype Finding 75 24 0.100 None 1.000 3 1 2016 2018
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 51 5 0.100 None 1.000 3 1 2016 2018
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 1.000 3 1 2016 2018
CUI: C0850703
Disease: Frequent falls
Frequent falls
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 94 4 0.100 None 1.000 3 1 2016 2018
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 44 15 0.100 None 1.000 3 1 2016 2018
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs
phenotype Pathological Conditions, Signs and Symptoms Finding 51 7 0.100 None 1.000 3 1 2016 2018
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype Finding 54 8 0.100 None 1.000 3 1 2016 2018