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: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
429 74 135 0.20 6 5.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
955 164 222 0.20 9 4.4E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
580 48 157 0.19 7 7.8E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly
1064 0 231 0.19 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
477 0 137 0.19 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
199 29 92 0.19 3 4.0E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
454 44 132 0.19 2 2.2E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
427 32 126 0.18 3 3.8E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
410 0 123 0.18 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
152 0 81 0.18 0 0
CUI: C1854882
Disease: Absent speech
Absent speech
232 72 93 0.18 8 7.1E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
136 27 77 0.17 8 0.12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
1825 553 321 0.17 21 3.6E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
261 78 93 0.17 2 1.6E-02
Delayed speech and language development
560 192 136 0.17 8 3.4E-02
CUI: C0013421
Disease: Dystonia
Dystonia
453 97 120 0.17 4 2.8E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
271 106 91 0.16 3 2.0E-02
CUI: C1848207
Disease: Poor speech
Poor speech
208 0 78 0.15 0 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
158 0 70 0.15 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
473 62 108 0.14 2 1.8E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
251 0 80 0.14 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
156 25 68 0.14 5 7.2E-02
CUI: C0038379
Disease: Strabismus
Strabismus
716 89 136 0.14 8 6.2E-02
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
393 0 96 0.14 0 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
118 0 62 0.14 0 0