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: C4015596
Disease: MYASTHENIC SYNDROME, CONGENITAL, 15
MYASTHENIC SYNDROME, CONGENITAL, 15
disease Disease or Syndrome 2 3 0.600 None 1.000 3 3 2013 2017
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 40 0.510 strong 1.000 1 2013 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.300 None 1.000 1 2017 2017
Congenital Myasthenic Syndromes, Postsynaptic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 0.300 None 0
Myasthenic Syndromes, Congenital, Slow Channel
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 1 0.300 None 0
Congenital Myasthenic Syndromes, Presynaptic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0.300 None 0
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement
phenotype Laboratory Procedure 58 306 0.100 None 1.000 1 2 2013 2013
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement
group Laboratory Procedure 50 116 0.100 None 1.000 1 2 2013 2013
CUI: C0947912
Disease: Myasthenias
Myasthenias
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 41 3 0.100 None 0
CUI: C1836038
Disease: Poor head control
Poor head control
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis
disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability
phenotype Finding 74 5 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: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0
Favorable response of weakness to acetylcholine esterase inhibitors
phenotype Finding 5 0.100 None 0
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
phenotype Finding 24 0.100 None 0
Increased jitter at single fibre EMG
phenotype Finding 5 0.100 None 0
CUI: C4021024
Disease: Muscle fiber tubular inclusions
Muscle fiber tubular inclusions
phenotype Anatomical Abnormality 8 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype Finding 165 0.100 None 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers
phenotype Finding 59 1 0.100 None 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 41 3 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance
phenotype Finding 44 0.100 None 0