Source: CLINVAR ×
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: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		2 17 2 1.00 7 0.41
CUI: C0041960
Disease: Ureterocele
Ureterocele 		1 0 1 0.50 0 0
CUI: C0949173
Disease: Delayed menarche
Delayed menarche 		1 1 1 0.50 1 0.14
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity 		5 4 2 0.40 2 0.22
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		2 0 1 0.33 0 0
CUI: C0271379
Disease: Convergence Insufficiency
Convergence Insufficiency 		2 4 1 0.33 2 0.22
CUI: C2169806
Disease: recurrent muscle twitches (symptom)
recurrent muscle twitches (symptom) 		2 3 1 0.33 2 0.25
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		3 4 1 0.25 1 1.0E-01
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		9 9 2 0.22 1 6.7E-02
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		4 10 1 0.20 3 0.21
CUI: C0040953
Disease: Trichotillomania
Trichotillomania 		4 4 1 0.20 1 1.0E-01
CUI: C4021898
Disease: Upper limb hypertonia
Upper limb hypertonia 		4 4 1 0.20 1 1.0E-01
CUI: C0008489
Disease: Chorea
Chorea 		11 14 2 0.18 1 5.0E-02
CUI: C0023380
Disease: Lethargy
Lethargy 		5 5 1 0.17 1 9.1E-02
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		5 0 1 0.17 0 0
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		5 0 1 0.17 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 18 2 0.15 6 0.32
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts 		6 5 1 0.14 1 9.1E-02
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		6 0 1 0.14 0 0
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		14 14 2 0.14 3 0.17
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		6 8 1 0.14 1 7.1E-02
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		6 6 1 0.14 1 8.3E-02
CUI: C1837463
Disease: Narrow face
Narrow face 		6 0 1 0.14 0 0
CUI: C0456909
Disease: Blindness
Blindness 		15 18 2 0.13 1 4.2E-02
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		7 7 1 0.12 1 7.7E-02