Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
2 17 2 5.1E-02 10 0.32
Attention deficit hyperactivity disorder
842 420 10 1.1E-02 8 1.8E-02
CUI: C0009806
Disease: Constipation
Constipation
424 57 7 1.5E-02 7 9.5E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
340 56 8 2.2E-02 7 9.6E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
955 164 25 2.6E-02 7 3.9E-02
Abnormal fear/anxiety-related behavior
5 7 2 4.8E-02 7 0.29
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
176 22 7 3.4E-02 6 0.15
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
1112 395 17 1.5E-02 6 1.5E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
305 22 4 1.2E-02 6 0.15
CUI: C0036572
Disease: Seizures
Seizures
2152 553 25 1.2E-02 5 8.7E-03
Delayed speech and language development
560 192 10 1.7E-02 5 2.4E-02
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
148 18 2 1.1E-02 5 0.14
CUI: C0002418
Disease: Amblyopia
Amblyopia
85 29 3 2.5E-02 4 8.2E-02
CUI: C0038379
Disease: Strabismus
Strabismus
716 89 16 2.2E-02 4 3.7E-02
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots
74 32 3 2.7E-02 4 7.7E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance
211 411 14 5.9E-02 4 9.3E-03
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
169 45 3 1.5E-02 4 6.2E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux
50 58 2 2.3E-02 4 5.1E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot
285 38 6 1.9E-02 3 5.1E-02
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
276 69 5 1.6E-02 3 3.3E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 579 21 2.1E-02 3 5.0E-03
CUI: C0027092
Disease: Myopia
Myopia
490 167 5 9.5E-03 3 1.6E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
311 74 9 2.6E-02 3 3.2E-02
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
127 14 3 1.8E-02 3 8.6E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased
30 46 2 3.0E-02 3 4.5E-02