Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0036572
Disease: Seizures
Seizures
218 417 28 6.2E-02 22 3.8E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
133 505 14 3.7E-02 20 3.0E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance
0 411 0 0 15 2.6E-02
Delayed speech and language development
0 192 0 0 14 3.9E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
15 164 1 3.6E-03 14 4.2E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
17 579 2 7.2E-03 10 1.3E-02
CUI: C0009806
Disease: Constipation
Constipation
7 49 2 7.5E-03 9 4.1E-02
Attention deficit hyperactivity disorder
24 208 6 2.2E-02 9 2.4E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
0 48 0 0 8 3.6E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux
0 58 0 0 8 3.5E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0 246 0 0 8 1.9E-02
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
0 22 0 0 7 3.6E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
8 120 1 3.7E-03 7 2.4E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
0 41 0 0 7 3.3E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression
0 78 0 0 6 2.4E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0 118 0 0 6 2.0E-02
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay
0 24 0 0 6 3.0E-02
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
0 17 0 0 6 3.1E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia
0 27 0 0 5 2.5E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0 48 0 0 5 2.2E-02
CUI: C0014877
Disease: Esotropia
Esotropia
0 39 0 0 5 2.3E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot
0 38 0 0 5 2.3E-02
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots
0 32 0 0 5 2.4E-02
CUI: C0239234
Disease: Low set ears
Low set ears
0 64 0 0 5 2.1E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
14 125 1 3.6E-03 5 1.7E-02