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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 1 2.9E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 1 3.0E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 0 1 3.3E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 4.2E-03 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 1 6.1E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 1 7.9E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 2 8.4E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 2 9.4E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 1 1.1E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 2 1.2E-02 1 3.7E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 1.3E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 1 1.5E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 0 1 1.5E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 0 2 1.5E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		56 0 1 1.7E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.8E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 2.1E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 2.2E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 1 2.4E-02 0 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 0 2 2.4E-02 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		37 0 1 2.5E-02 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		36 0 1 2.6E-02 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		34 0 1 2.7E-02 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 0 1 3.2E-02 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		26 0 1 3.4E-02 0 0