Source: ALL
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: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 109 0.18 7 5.5E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 93 0.18 8 7.1E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 63 0.18 2 1.0E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 157 0.15 13 5.8E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 64 0.15 5 3.4E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 51 0.15 6 7.6E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 84 0.15 16 0.12
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 90 0.15 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 48 0.14 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 47 0.14 7 7.8E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 97 0.14 5 4.3E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 34 58 0.13 1 9.5E-03
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 12 36 0.13 2 2.4E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 92 0.13 9 3.5E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 65 0.13 6 4.1E-02
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 6 39 0.13 1 1.3E-02
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 49 0.13 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 43 0.12 21 7.1E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 46 0.12 6 6.5E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 48 0.12 10 2.1E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 74 0.12 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 139 0.12 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 49 0.12 6 6.5E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 47 0.12 6 6.6E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 51 0.12 6 3.7E-02