Source: CURATED ×
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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		15 164 1 3.6E-03 14 4.2E-02
CUI: C0009806
Disease: Constipation
Constipation 		7 49 2 7.5E-03 9 4.1E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0 192 0 0 14 3.9E-02
CUI: C0036572
Disease: Seizures
Seizures 		218 417 28 6.2E-02 22 3.8E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0 48 0 0 8 3.6E-02
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0 22 0 0 7 3.6E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0 58 0 0 8 3.5E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0 41 0 0 7 3.3E-02
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0 17 0 0 6 3.1E-02
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0 24 0 0 6 3.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		133 505 14 3.7E-02 20 3.0E-02
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		0 7 0 0 5 2.7E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0 411 0 0 15 2.6E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0 22 0 0 5 2.5E-02
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0 24 0 0 5 2.5E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0 27 0 0 5 2.5E-02
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0 32 0 0 5 2.4E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		8 120 1 3.7E-03 7 2.4E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0 78 0 0 6 2.4E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		24 208 6 2.2E-02 9 2.4E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0 38 0 0 5 2.3E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		0 39 0 0 5 2.3E-02
CUI: C0456070
Disease: Growth delay
Growth delay 		0 40 0 0 5 2.3E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0 46 0 0 5 2.3E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0 48 0 0 5 2.2E-02