Source: CLINVAR ×
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: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
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 0 3 2004 2017
CUI: C1837552
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder) 		disease Disease or Syndrome 1 2 0.610 strong 1.000 0 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 1 1 0.420 strong 1.000 3 1 2016 2018
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		disease Nervous System Diseases Disease or Syndrome 1 1 0.200 None 1.000 3 1 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 24 52 0.200 None 1.000 0 2 2005 2018
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 37 63 0.130 None 1.000 3 1 2016 2018
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype Finding 20 24 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 15 15 0.100 None 1.000 3 1 2016 2018
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype Finding 19 24 0.100 None 1.000 3 1 2016 2018
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		phenotype Nervous System Diseases Finding 7 7 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 3 4 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 3 3 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 4 5 0.100 None 1.000 3 1 2016 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 25 33 0.100 None 1.000 3 1 2016 2018
CUI: C0023798
Disease: Lipoma
Lipoma 		disease Neoplasms Neoplastic Process 5 8 0.100 None 1.000 3 1 2016 2018
CUI: C0024031
Disease: Low Back Pain
Low Back Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 4 4 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 21 48 0.100 None 1.000 3 1 2016 2018
CUI: C0234182
Disease: Gowers sign
Gowers sign 		phenotype Finding 7 8 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 7 7 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 12 15 0.100 None 1.000 3 1 2016 2018
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		phenotype Pathological Conditions, Signs and Symptoms Finding 20 30 0.100 None 1.000 3 1 2016 2018
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy 		phenotype Finding 1 1 0.100 None 1.000 3 1 2016 2018