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.
Childhood Ataxia with Central Nervous System Hypomyelinization
disease Nervous System Diseases Disease or Syndrome 59 63 0.990 strong 1.000 25 31 2001 2019
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
disease Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 7 9 0.810 None 1.000 6 3 2003 2016
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.400 None 1.000 1 1977 1977
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.400 None 1.000 1 1977 1977
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.300 None 1.000 1 1977 1977
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.300 None 1.000 1 1977 1977
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.300 None 1.000 1 2014 2014
CUI: C0348489
Disease: Other sphingolipidosis
Other sphingolipidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 7 0.200 None 1.000 3 2010 2016
CUI: C0872084
Disease: Sarcopenia
Sarcopenia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 164 10 0.200 None 1.000 1 2004 2004
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.200 None 1.000 1 2002 2002
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.130 None 1.000 3 1 2004 2008
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.110 None 1.000 1 1 2009 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 5 1 1998 2014
CUI: C0233794
Disease: Memory impairment
Memory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.100 None 0
Central nervous system demyelination
disease Disease or Syndrome 52 3 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.100 None 0
CUI: C0240735
Disease: Personality Change
Personality Change
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 43 6 0.100 None 0
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 58 2 0.100 None 0
CUI: C0425957
Disease: Secondary amenorrhea
Secondary amenorrhea
phenotype Pathological Conditions, Signs and Symptoms Finding 49 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE
phenotype Finding 299 0.100 None 0
CUI: C4025319
Disease: Cessation of head growth
Cessation of head growth
disease Anatomical Abnormality 6 0.100 None 0
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
phenotype Finding 20 19 0.100 None 0 1
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0
phenotype Finding 109 2 0.100 None 0