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: C0036572
Disease: Seizures
Seizures 		237 0 1 3.7E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 1 4.0E-03 1 2.1E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 5.1E-03 0 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 0 1 1.0E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 1 1.0E-02 1 6.9E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 2 1.0E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		61 0 1 1.0E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 0 1 1.2E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 1 1.2E-02 1 7.5E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 0 1 1.2E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.3E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 1 1.3E-02 2 1.7E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 1 1.3E-02 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 0 1 1.3E-02 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 78 1 1.3E-02 1 7.1E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 5 1.4E-02 1 1.5E-03
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 0 1 1.4E-02 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		36 0 1 1.4E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 1 1.4E-02 1 9.2E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 0 1 1.4E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 0 1 1.4E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 1 1.4E-02 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 0 1 1.4E-02 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		32 0 1 1.5E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 4 1.5E-02 1 2.4E-03