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: C4225351
Disease: WHITE-SUTTON SYNDROME
WHITE-SUTTON SYNDROME
disease Mental or Behavioral Dysfunction 1 15 0.600 6 15 2015 2018
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 0.410 strong 1.000 2 2015 2016
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 207 1 0.310 1.000 2 2016 2017
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 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.110 1.000 1 2016 2016
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 13 1 1999 2017
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia
phenotype Finding 13 0.100 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 157 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
phenotype Finding 83 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C1844505
Disease: Pointed chin
Pointed chin
phenotype Finding 49 3 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0 1
CUI: C1837084
Disease: Short metacarpal
Short metacarpal
phenotype Finding 63 2 0.100 0 1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 749 36 0.100 0 1
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures
disease Disease or Syndrome 11 0.100 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
phenotype Finding 28 0.100 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth
phenotype Anatomical Abnormality 84 1 0.100 0
mandibular excess (physical finding)
phenotype Finding 101 0.100 0
CUI: C2673410
Disease: Small midface
Small midface
phenotype Finding 157 1 0.100 0
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 139 4 0.100 0
CUI: C4280646
Disease: Atony of facial musculature
Atony of facial musculature
phenotype Finding 13 0.100 0
CUI: C4280645
Disease: Hypertrophy of lower jaw
Hypertrophy of lower jaw
phenotype Finding 101 0.100 0