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: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 4.5E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 0 1 5.0E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 2 5.8E-03 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 1 5.8E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 2 8.1E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 2 8.1E-03 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 0 1 1.0E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 2 1.2E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 0 4 1.3E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 0 1 1.4E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 2 1.4E-02 1 5.6E-03
CUI: C0239234
Disease: Low set ears
Low set ears 		56 0 1 1.5E-02 0 0
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 0 1 1.5E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 2 1.8E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 0 1 1.9E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 1 2.0E-02 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 0 1 2.1E-02 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 0 1 2.2E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 0 1 2.2E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 8 2.4E-02 1 1.7E-03
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 0 1 2.4E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 0 1 2.4E-02 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 0 1 2.4E-02 0 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 1 2.4E-02 1 1.7E-02