Source: INFERRED ×
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 		942 164 306 0.26 25 7.6E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 409 0.25 81 0.13
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		228 76 150 0.24 17 6.8E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		223 93 149 0.24 38 0.15
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 0 324 0.22 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		334 62 150 0.20 7 2.8E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 234 0.20 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 157 0.20 8 3.4E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		344 208 149 0.20 8 2.0E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		381 34 155 0.20 12 5.6E-02
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		363 0 146 0.19 0 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		178 12 113 0.18 3 1.5E-02
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 117 0.18 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		426 32 150 0.18 5 2.3E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		269 48 124 0.18 11 4.8E-02
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 		407 0 142 0.17 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		319 21 129 0.17 1 4.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 270 0.17 50 8.9E-02
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 244 0.17 26 5.7E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 218 0.17 28 3.8E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		491 39 150 0.17 6 2.7E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 177 0.17 14 5.3E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 127 0.17 3 3.7E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		351 49 128 0.16 8 3.4E-02