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.
Myopathy, Centronuclear, Autosomal Recessive
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality; Disease or Syndrome 6 8 0.630 1.000 5 6 2007 2013
Autosomal Recessive Centronuclear Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 0.530 1.000 3 2007 2013
Myopathy, Centronuclear, Autosomal Dominant
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 12 0.510 1.000 2 2007 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 1981 1062 0.400 0.938 33 2011 2018
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 252 110 0.400 0.923 13 5 2011 2018
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 27 3 0.390 1.000 9 2007 2015
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 23 143 0.310 1.000 2 2007 2009
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 187 62 0.310 < 0.001 2 2011 2014
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 361 102 0.310 < 0.001 2 2011 2014
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 1 0.310 1 2007 2007
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 28 34 0.300 1 2007 2007
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 84 2 0.300 1 2011 2011
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 84 2 0.300 1 2011 2011
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 115 55 0.300 1 2011 2011
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 36 11 0.300 1 2007 2007
Autosomal Dominant Myotubular Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 15 0.300 1 2007 2007
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 306 6 0.300 limited 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group Congenital Abnormality 109 5 0.300 strong 0
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Cardiovascular Diseases Disease or Syndrome 965 454 0.100 1 1 2011 2011
CUI: C0376175
Disease: Bell Palsy
Bell Palsy
disease Nervous System Diseases; Stomatognathic Diseases; Virus Diseases Disease or Syndrome 91 0.100 0
CUI: C0231712
Disease: Waddling gait
Waddling gait
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 58 2 0.100 0
CUI: C0278124
Disease: Absent tendon reflex
Absent tendon reflex
phenotype Finding 133 0.100 0
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 136 0.100 0
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype Finding 36 0.100 0