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.
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
disease Disease or Syndrome 1 7 0.700 2 7 2012 2016
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.310 strong 1.000 2 2012 2016
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 3 2012 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 1 2016 2016
Malformations of Cortical Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 98 2 0.300 strong 1 2016 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 234 3 0.300 strong 1 2016 2016
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
group Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 177 19 0.300 limited 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 109 11 0.110 1.000 1 2016 2016
CUI: C1318035
Disease: Platelet distribution width result
Platelet distribution width result
phenotype Laboratory or Test Result 119 200 0.100 1 1 2017 2017
Head circumference small for gestational age
phenotype Finding 8 8 0.100 1 4 2016 2016
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 176 357 0.100 1 1 2017 2017
Platelet distribution width measurement
phenotype Laboratory Procedure 119 200 0.100 1 1 2017 2017
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Finding 75 2 0.100 0
CUI: C1842581
Disease: Abnormality of the corpus callosum
Abnormality of the corpus callosum
phenotype Finding 12 3 0.100 0
CUI: C1527347
Disease: Difficulty speaking
Difficulty speaking
phenotype Finding 72 0.100 0
CUI: C4020838
Disease: Relative short stature
Relative short stature
phenotype Finding 16 0.100 0
CUI: C3150077
Disease: Mild short stature
Mild short stature
phenotype Finding 16 0.100 0
CUI: C4280574
Disease: Problems speaking
Problems speaking
phenotype Finding 72 0.100 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 281 19 0.100 0
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.100 0
Moderate mental retardation (I.Q. 35-49)
disease Mental or Behavioral Dysfunction 58 4 0.100 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.100 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype Finding 140 5 0.100 0
CUI: C0424688
Disease: Small head
Small head
phenotype Finding 569 57 0.100 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 35 0.010 1.000 1 2016 2016