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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
disease Disease or Syndrome 1 6 0.600 6 6 2013 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.430 strong 1.000 4 2 2013 2018
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
phenotype Finding 1 2 0.400 4 2 2008 2017
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 33 6 0.020 1.000 2 1 2002 2013
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
disease Congenital Abnormality 65 2 0.010 1.000 1 2009 2009
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease Mental or Behavioral Dysfunction 53 4 0.110 1.000 1 2002 2002
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery
phenotype Pathologic Function 374 3393 0.100 1 10 2013 2013
CUI: C1868649
Disease: PANIC DISORDER 1
PANIC DISORDER 1
disease Mental or Behavioral Dysfunction 76 40 0.010 1.000 1 2015 2015
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease Congenital Abnormality 273 7 0.010 1.000 1 1993 1993
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
disease Disease or Syndrome 47 14 0.010 1.000 1 2016 2016
CUI: C4021813
Disease: Oral cleft
Oral cleft
disease Congenital Abnormality 32 0.010 1.000 1 2013 2013
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 313 807 0.100 0 1
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.100 0
CUI: C0085639
Disease: Falls
Falls
phenotype Finding 13 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C0424323
Disease: Physical aggression
Physical aggression
phenotype Individual Behavior 107 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure
disease Disease or Syndrome 6 0.100 0
CUI: C1457883
Disease: Aggressive reaction
Aggressive reaction
phenotype Mental or Behavioral Dysfunction 109 0.100 0
CUI: C1704276
Disease: Spasmodic movement
Spasmodic movement
phenotype Sign or Symptom 122 0.100 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures
phenotype Finding 11 1 0.100 0
CUI: C1836509
Disease: Hypotonic seizures
Hypotonic seizures
phenotype Finding 15 0.100 0
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1
disease Disease or Syndrome 6 0.300 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology
phenotype Finding 10 0.100 0