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: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.400 strong 1.000 1 1 2017 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.310 strong 1.000 2 2017 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.300 None 1.000 1 2011 2011
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 144 0.300 None 1.000 1 2011 2011
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone
phenotype Nervous System Diseases Finding 14 7 0.300 strong 1.000 1 2017 2017
Abnormality of nervous system morphology
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Anatomical Abnormality 13 0.300 strong 1.000 1 2017 2017
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.200 None 1.000 1 2006 2006
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 2015 2015
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 108 31 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
phenotype Mental Disorders Finding 112 6 0.100 None 0
CUI: C0423082
Disease: Hypometric saccades
Hypometric saccades
phenotype Finding 13 4 0.100 None 0 1
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
phenotype Finding 216 16 0.100 None 0
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 10 13 0.100 None 0 1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot
phenotype Finding 116 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
CUI: C4023074
Disease: EEG with parietal focal spikes
EEG with parietal focal spikes
phenotype Finding 1 1 0.100 None 0 1
CUI: C4023073
Disease: EEG with temporal focal spikes
EEG with temporal focal spikes
phenotype Finding 2 1 0.100 None 0 1
CUI: C3279675
Disease: Perisylvian polymicrogyria
Perisylvian polymicrogyria
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding 5 3 0.100 None 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0 1
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
phenotype Finding 211 25 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype Finding 282 16 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0