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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 307 0.25 25 7.6E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 157 0.24 38 0.15
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 155 0.23 17 6.7E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 431 0.22 81 0.12
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 174 0.21 7 2.7E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 157 0.20 12 5.6E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 157 0.20 8 3.4E-02
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 155 0.19 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 143 0.19 11 4.6E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 254 0.19 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 417 0.18 2 5.7E-03
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 117 0.18 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 150 0.18 5 2.3E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 150 0.18 3 3.7E-03
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 114 0.17 4 1.9E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 142 0.17 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 244 0.17 26 5.7E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 136 0.17 8 3.4E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 219 0.17 28 3.8E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 180 0.16 14 5.2E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 220 0.16 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 141 0.16 1 4.3E-03
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 144 0.16 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 157 0.16 6 2.6E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 190 0.16 4 1.2E-02