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: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 1.1E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 0 1 1.2E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		61 0 1 1.2E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 3 1.3E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.3E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 5 1.4E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 292 3 1.4E-02 1 2.5E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 0 1 1.5E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 0 1 1.5E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		46 0 1 1.5E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.5E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 0 1 1.6E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 5 1.6E-02 1 1.6E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 0 4 1.6E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 6 1.7E-02 1 1.4E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 1.7E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 1 1.7E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 1 1.9E-02 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		32 0 1 1.9E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 0 1 1.9E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 0 1 1.9E-02 0 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 0 1 2.0E-02 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 0 1 2.0E-02 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 0 1 2.0E-02 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		28 0 1 2.0E-02 0 0