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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 1 5.9E-03 2 6.3E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 0 2 8.1E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 3 8.7E-03 2 3.1E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 2 1.2E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 1.2E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 3 1.4E-02 2 4.1E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 1 1.4E-02 1 6.5E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 2 1.5E-02 1 3.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 5 1.6E-02 13 2.3E-02
CUI: C0027092
Disease: Myopia
Myopia 		45 0 1 1.8E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 1 1.9E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 1.9E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 49 1 2.0E-02 1 8.3E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 48 1 2.0E-02 1 8.3E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 0 1 2.0E-02 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 2 2.0E-02 5 2.7E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 2 2.1E-02 1 5.6E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 7 2.1E-02 12 1.8E-02
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 0 1 2.4E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 6 2.5E-02 6 1.4E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		30 42 1 2.5E-02 1 8.8E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 39 1 2.5E-02 1 9.0E-03
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 1 2.5E-02 1 8.5E-03
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 0 1 2.6E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 2 2.8E-02 1 6.1E-03