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: C0578038
Disease: Thin lips
Thin lips 		phenotype Finding 99 8 0.100 None 0 1
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		phenotype Finding 18 27 0.100 None 0 2
CUI: C0878565
Disease: Electrocardiogram J wave
Electrocardiogram J wave 		phenotype Laboratory Procedure 1 0.100 None 0
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs 		phenotype Finding 19 1 0.100 None 0 1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1836835
Disease: Hyporeflexia of upper limbs
Hyporeflexia of upper limbs 		phenotype Finding 5 1 0.100 None 0 1
CUI: C1856477
Disease: Slowed horizontal saccades
Slowed horizontal saccades 		phenotype Finding 3 1 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: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0 		phenotype Finding 17 0.100 None 0
CUI: C3552821
Disease: EEG with photoparoxysmal response
EEG with photoparoxysmal response 		phenotype Finding 3 1 0.100 None 0 1
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation 		phenotype Finding 12 8 0.100 None 0 1
CUI: C4018858
Disease: J wave
J wave 		phenotype Finding 1 0.100 None 0
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		phenotype Finding 21 3 0.100 None 0 1
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group Anatomical Abnormality 96 4 0.100 None 0 1
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		phenotype Finding 38 19 0.100 None 0 1
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0 		phenotype Finding 17 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.100 None 1.000 19 1 2010 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.370 None 0.800 7 3 2010 2017
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.070 None 1.000 7 3 2010 2017
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.040 None 1.000 4 1 2010 2018
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2019 2019
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 199 24 0.010 None 1.000 1 2018 2018
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 421 120 0.010 None 1.000 1 2013 2013
CUI: C0871388
Disease: social stress
social stress 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 45 22 0.010 None 1.000 1 2017 2017
CUI: C1837650
Disease: Lack of spontaneous play
Lack of spontaneous play 		phenotype Behavior and Behavior Mechanisms Finding 5 1 0.100 None 0 1