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: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.700 None 1.000 4 4 2010 2019
CUI: C0221151
Disease: Projectile vomiting
Projectile vomiting 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom 1 0.100 None 0
CUI: C0007795
Disease: Diffuse Cerebral Sclerosis of Schilder
Diffuse Cerebral Sclerosis of Schilder 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C3279322
Disease: Progressive flexion contractures
Progressive flexion contractures 		phenotype Finding 6 0.100 None 0
CUI: C0040954
Disease: Infection by Trichuris trichiura
Infection by Trichuris trichiura 		disease Infections Disease or Syndrome 17 0.010 None 1.000 1 2019 2019
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum 		disease Nervous System Diseases Disease or Syndrome 21 2 0.100 None 0
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		disease Disease or Syndrome 27 10 0.010 None < 0.001 1 1 2019 2019
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 30 0.100 None 0
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		disease Nervous System Diseases Congenital Abnormality 32 7 0.010 None < 0.001 1 1 2019 2019
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		phenotype Pathologic Function 41 6 0.100 None 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		phenotype Finding 41 0.100 None 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		phenotype Finding 52 9 0.100 None 0
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 75 37 0.100 None 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease Nervous System Diseases Disease or Syndrome 75 9 0.100 None 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		phenotype Behavior and Behavior Mechanisms Finding 77 2 0.100 None 0
CUI: C1519666
Disease: Tumor-Associated Vasculature
Tumor-Associated Vasculature 		disease Acquired Abnormality 84 0.020 None 1.000 2 1999 1999
CUI: C4554601
Disease: Amyloidosis cutis dyschromia
Amyloidosis cutis dyschromia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 84 1 0.010 None 1.000 1 2004 2004
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 2 0.100 None 0
CUI: C0002873
Disease: Anemia of chronic disease
Anemia of chronic disease 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 100 1 0.010 None 1.000 1 2004 2004
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 115 14 0.010 None 1.000 1 2004 2004
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 130 50 0.100 None 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		disease Behavior and Behavior Mechanisms Individual Behavior 135 0.100 None 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 136 27 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype Finding 146 7 0.100 None 0