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.
Weakness of the intrinsic hand muscles
phenotype Finding 21 0.100 None 0
Impaired vibration sensation in the lower limbs
phenotype Finding 39 4 0.100 None 0
CUI: C1854657
Disease: Limb fasciculations
Limb fasciculations
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.100 None 0
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis
phenotype Musculoskeletal Diseases Finding 23 5 0.100 None 0
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor
disease Nervous System Diseases Disease or Syndrome 32 3 0.100 None 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness
phenotype Finding 70 4 0.100 None 0
CUI: C0270790
Disease: Quadriparesis
Quadriparesis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 5 0.100 None 0
CUI: C1868623
Disease: Handgrip myotonia
Handgrip myotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 2 0.100 None 0
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy
phenotype Finding 27 4 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: C0221170
Disease: Muscular stiffness
Muscular stiffness
phenotype Nervous System Diseases Sign or Symptom 92 6 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
CUI: C0037763
Disease: Spasm
Spasm
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.100 None 0
Flexion contracture of proximal interphalangeal joint
phenotype Finding 168 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
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy
disease Disease or Syndrome 29 8 0.100 None 0
CUI: C1389118
Disease: Peroneal muscle atrophy
Peroneal muscle atrophy
disease Disease or Syndrome 10 2 0.100 None 0
Distal sensory impairment of all modalities
phenotype Finding 9 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: C1836843
Disease: Progressive inability to walk
Progressive inability to walk
phenotype Finding 10 3 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: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 5 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy
phenotype Finding 23 1 0.100 None 0 1