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: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 207 1 0.300 1 2017 2017
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 107 3 0.300 1 2010 2010
CUI: C2985290
Disease: Fetal Alcohol Spectrum Disorders
Fetal Alcohol Spectrum Disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Substance-Related Disorders Congenital Abnormality; Disease or Syndrome 23 0.200 2 2012 2013
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 72 2 0.200 2 2009 2012
Other specified manifestations of hyperkinetic syndrome
disease Mental or Behavioral Dysfunction 21 0.200 2 2009 2012
CUI: C0559469
Disease: Allergy to eggs
Allergy to eggs
phenotype Immune System Diseases Disease or Syndrome 1 0.200 1 2009 2009
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 18 20 0.200 1 2001 2001
CUI: C0032051
Disease: Placental Insufficiency
Placental Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 27 0.200 1 2009 2009
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 409 311 0.200 1 2001 2001
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 231 13 0.200 1 2010 2010
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 371 46 0.140 1.000 4 2007 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.120 1.000 2 2015 2018
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.110 1.000 1 2010 2010
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
disease Mental or Behavioral Dysfunction 192 24 0.110 1.000 1 1 2014 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.110 1.000 1 2014 2014
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 18 1 2007 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases Disease or Syndrome 626 68 0.100 1.000 11 1 1997 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 1981 1062 0.100 0.889 10 2 2002 2018
CUI: C3850153
Disease: Ovarian Reserve
Ovarian Reserve
phenotype Organ or Tissue Function 1 3 0.100 1 1 2012 2012
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement
group Laboratory Procedure 58 121 0.100 1 1 2012 2012
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C1850493
Disease: Psychomotor regression, progressive
Psychomotor regression, progressive
phenotype Finding 149 0.100 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
phenotype Nervous System Diseases Finding 50 0.100 0
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
disease Disease or Syndrome 47 14 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0