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 		336 579 96 0.24 101 0.14
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 88 0.22 75 9.7E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 51 0.16 13 2.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 60 0.15 12 1.6E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 50 0.14 7 1.1E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 32 0.13 5 1.2E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 31 0.12 1 2.5E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 34 0.12 5 1.0E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 42 0.12 26 4.6E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 24 0.11 5 1.5E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 19 8.8E-02 1 3.0E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		42 61 15 7.9E-02 3 1.0E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 15 7.9E-02 3 1.0E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 17 7.3E-02 1 2.9E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 0 13 6.9E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 13 6.8E-02 2 6.7E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 13 6.7E-02 3 9.7E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 0 14 6.6E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 12 6.6E-02 5 1.8E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 13 6.4E-02 2 6.5E-03
CUI: C0349588
Disease: Short stature
Short stature 		190 292 21 6.3E-02 1 1.9E-03
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 36 11 6.1E-02 1 3.6E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 15 6.0E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		56 0 12 5.8E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 11 5.7E-02 0 0