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: C0557874
Disease: Global developmental delay
Global developmental delay 		303 0 1 3.1E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 1 3.8E-03 1 2.5E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 0 1 6.6E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 1 6.8E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 1 9.0E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 0 2 9.4E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 4 1.1E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 1 1.2E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 1 1.2E-02 1 7.0E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 0 3 1.2E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		61 0 1 1.2E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		56 0 1 1.3E-02 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		45 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 1.5E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 1.5E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 1.6E-02 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 0 1 1.6E-02 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 0 1 1.6E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 3 1.6E-02 1 3.4E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 3 1.7E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 1.7E-02 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 0 1 1.7E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 6 1.7E-02 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 0 2 1.8E-02 0 0