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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 2 8.0E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 2 8.0E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 1 8.6E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 4 1.2E-02 3 5.1E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 4 1.2E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 1 1.3E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 0 1 1.3E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.5E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 292 3 1.5E-02 1 3.3E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 5 1.6E-02 4 7.8E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 3 1.7E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.8E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 1 1.8E-02 1 1.3E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 4 1.8E-02 3 7.1E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 1 1.9E-02 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 0 1 1.9E-02 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 0 1 1.9E-02 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 0 1 1.9E-02 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 0 2 2.0E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 43 1 2.0E-02 2 3.6E-02
CUI: C0026848
Disease: Myopathy
Myopathy 		37 0 1 2.0E-02 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 257 2 2.0E-02 1 3.7E-03
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 1 2.0E-02 1 1.9E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 0 1 2.1E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 0 1 2.1E-02 0 0