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: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		23 27 8 0.15 12 0.13
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 9 0.13 10 9.2E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 25 7 0.13 6 6.2E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		42 61 9 0.12 8 6.1E-02
CUI: C0040822
Disease: Tremor
Tremor 		16 21 6 0.12 2 2.1E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		11 12 5 0.11 5 5.9E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 7 0.11 1 8.7E-03
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 8 0.11 6 4.1E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 5 0.10 2 2.2E-02
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		16 22 5 1.0E-01 4 4.2E-02
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		7 11 4 9.5E-02 4 4.7E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 8 9.4E-02 6 4.3E-02
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		20 21 5 9.3E-02 2 2.1E-02
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		20 24 5 9.3E-02 5 5.2E-02
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		20 33 5 9.3E-02 5 4.7E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 6 9.2E-02 4 3.6E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 14 9.2E-02 14 6.1E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 7 9.0E-02 6 4.2E-02
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		10 12 4 8.9E-02 5 5.9E-02
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		10 11 4 8.9E-02 2 2.3E-02
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 25 5 8.8E-02 3 3.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 27 8.6E-02 24 4.3E-02
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		12 14 4 8.5E-02 5 5.7E-02
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		12 15 4 8.5E-02 3 3.3E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 10 8.5E-02 4 2.1E-02