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: C0751901
Disease: Tic, Vocal
Tic, Vocal 		1 1 1 0.50 1 0.14
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		1 0 1 0.50 0 0
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology 		1 1 1 0.50 1 0.14
CUI: C4021199
Disease: EEG with focal epileptiform discharges
EEG with focal epileptiform discharges 		1 1 1 0.50 1 0.14
CUI: C4021391
Disease: Broad phalanges of the hand
Broad phalanges of the hand 		1 1 1 0.50 1 0.14
CUI: C4023493
Disease: Beta-EEG
Beta-EEG 		1 1 1 0.50 1 0.14
CUI: C4023494
Disease: Alpha-EEG
Alpha-EEG 		1 1 1 0.50 1 0.14
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		4 10 1 0.20 1 6.2E-02
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing 		4 5 1 0.20 1 9.1E-02
CUI: C1843108
Disease: Short palm
Short palm 		11 13 1 8.3E-02 1 5.3E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		17 21 1 5.6E-02 1 3.7E-02
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		20 33 1 4.8E-02 1 2.6E-02
CUI: C0575802
Disease: Small hand
Small hand 		24 31 1 4.0E-02 1 2.7E-02
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 0 1 3.4E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 42 1 2.9E-02 1 2.1E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 51 1 2.5E-02 1 1.8E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 1 1.8E-02 1 1.3E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 0 1 1.2E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 1 4.7E-03 1 2.4E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 4.2E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 417 1 4.2E-03 1 2.4E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 1 3.0E-03 0 0