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: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Disease or Syndrome 7 47 0.730 1.000 6 7 2002 2008
Childhood Ataxia with Central Nervous System Hypomyelinization
disease Nervous System Diseases Disease or Syndrome 30 57 0.700 0.941 18 8 2001 2016
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Disease or Syndrome 203 6 0.390 strong 0.889 9 2004 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1187 428 0.300 1 2014 2014
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 166 0.300 strong 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C0270612
Disease: Leukoencephalopathies
Leukoencephalopathies
group Nervous System Diseases Disease or Syndrome 85 6 0.150 1.000 5 2003 2017
CUI: C1850493
Disease: Psychomotor regression, progressive
Psychomotor regression, progressive
phenotype Finding 149 0.100 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Disease or Syndrome 153 2 0.100 0
CUI: C1836550
Disease: Loss of developmental milestones
Loss of developmental milestones
phenotype Finding 149 0.100 0
CUI: C4280664
Disease: Big calvaria
Big calvaria
phenotype Finding 212 0.100 0
CUI: C0751295
Disease: Memory Loss
Memory Loss
phenotype Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 125 2 0.100 0
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype Sign or Symptom 58 0.100 0
Central nervous system demyelination
disease Disease or Syndrome 48 3 0.100 0
CUI: C1855009
Disease: Psychomotor regression in infants
Psychomotor regression in infants
phenotype Finding 152 9 0.100 0
CUI: C1855019
Disease: Psychomotor regression
Psychomotor regression
phenotype Finding 149 0.100 0
CUI: C4255213
Disease: Increased size of skull
Increased size of skull
phenotype Finding 212 0.100 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference
phenotype Finding 214 0.100 0
CUI: C4025319
Disease: Cessation of head growth
Cessation of head growth
phenotype Anatomical Abnormality 5 0.100 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination
phenotype Finding 15 2 0.100 0
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency
phenotype Finding 10 0.100 0
CUI: C1858995
Disease: Decreased circulating progesterone
Decreased circulating progesterone
phenotype Finding 5 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C1857121
Disease: Neurodevelopmental regression
Neurodevelopmental regression
phenotype Finding 149 0.100 0
Psychomotor regression beginning in infancy
phenotype Finding 149 0.100 0