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: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 134 0.25 2 1.2E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 129 0.23 1 6.6E-03
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 116 0.22 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 174 0.21 7 2.7E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 27 257 0.21 1 1.0E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 237 0.21 7 3.0E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 135 0.20 6 5.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 368 0.20 13 2.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 184 0.19 8 5.2E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 100 0.19 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 211 0.18 3 4.6E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 110 0.17 2 1.6E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 128 0.16 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 98 130 0.16 2 1.2E-02
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 114 0.16 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 118 0.16 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 112 0.16 4 3.8E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 139 0.16 5 4.3E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 96 0.16 13 7.8E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 115 0.16 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 112 0.16 2 1.7E-02
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 77 0.16 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 351 0.16 5 2.2E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 84 0.16 3 3.1E-02
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 78 0.16 0 0