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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 1 2.9E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 4.1E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 1 4.1E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 2 5.8E-03 1 1.7E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 5.8E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 2 6.4E-03 1 1.9E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 2 9.1E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 1 1.0E-02 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 0 1 1.0E-02 0 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 0 1 1.1E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 1 1.4E-02 1 1.0E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 2 1.5E-02 2 1.1E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 2 1.5E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 1 1.6E-02 1 1.2E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 1 1.8E-02 1 1.2E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 1 1.9E-02 1 1.3E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 0 1 1.9E-02 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 51 1 2.1E-02 1 1.6E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 1 2.2E-02 1 1.9E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 0 1 2.3E-02 0 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		35 45 1 2.3E-02 1 1.7E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 1 2.4E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 2.4E-02 1 2.0E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 0 1 2.5E-02 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 0 1 2.6E-02 0 0