Source: CURATED ×
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: C0042035
Disease: Urination Disorders
Urination Disorders 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 0.300 None 1.000 1 2010 2010
CUI: C0233715
Disease: Speech impairment
Speech impairment 		phenotype Finding 1 2 0.300 limited 1.000 1 2012 2012
CUI: C0233754
Disease: Derealization
Derealization 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1 0.300 limited 1.000 1 2012 2012
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 44 15 0.300 limited 1.000 1 2012 2012
CUI: C0751334
Disease: Progressive Proximal Myelopathic Muscular Atrophy
Progressive Proximal Myelopathic Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2012 2012
CUI: C0751212
Disease: Hyperalgesia, Secondary
Hyperalgesia, Secondary 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 1 2008 2008
CUI: C0270765
Disease: Myelopathic Muscular Atrophy
Myelopathic Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2012 2012
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 20 0.300 None 1.000 1 2012 2012
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 51 0.300 None 1.000 1 2012 2012
CUI: C0751226
Disease: Hypersomnia, Recurrent
Hypersomnia, Recurrent 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 1 0.300 limited 1.000 1 2012 2012
CUI: C0751214
Disease: Hyperalgesia, Thermal
Hyperalgesia, Thermal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 1 2008 2008
CUI: C0393546
Disease: Oculopharyngeal Spinal Muscular Atrophy
Oculopharyngeal Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2012 2012
CUI: C0393547
Disease: Bulbospinal Neuronopathy
Bulbospinal Neuronopathy 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2012 2012
CUI: C0751213
Disease: Tactile Allodynia
Tactile Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 1 2008 2008
CUI: C0751211
Disease: Hyperalgesia, Primary
Hyperalgesia, Primary 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 1 2008 2008
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 17 0.300 None 1.000 1 2008 2008
CUI: C0458247
Disease: Allodynia
Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 84 0.300 None 1.000 1 2008 2008
CUI: C0562557
Disease: Sexually disinhibited behavior
Sexually disinhibited behavior 		phenotype Finding 1 0.300 limited 1.000 1 2012 2012
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 84 0.300 None 1.000 1 2012 2012
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 5 0.300 None 1.000 1 2012 2012
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 2 6 0.300 None 1.000 1 2016 2016
CUI: C0009676
Disease: Confusion
Confusion 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1 5 0.300 limited 1.000 1 2012 2012
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 0.300 None 1.000 1 2008 2008
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 2 0.300 None 1.000 1 2008 2008
CUI: C3711162
Disease: Metatropic Dysplasia Type 1
Metatropic Dysplasia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2010 2010