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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 131 0.10 3 1.4E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 159 0.10 9 2.1E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 79 1.0E-01 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 145 9.8E-02 3 7.8E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 132 9.5E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 78 9.5E-02 1 6.8E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 81 9.5E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 127 9.5E-02 2 7.7E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 184 9.4E-02 3 6.8E-03
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 150 9.3E-02 3 1.4E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 66 9.1E-02 1 7.4E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 73 8.9E-02 0 0
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		977 39 120 8.8E-02 1 7.4E-03
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 63 8.7E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 109 8.6E-02 2 1.2E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 97 8.6E-02 0 0
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		194 0 55 8.5E-02 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 54 8.5E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 56 8.5E-02 6 1.2E-02
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 55 8.4E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 67 8.4E-02 1 2.9E-03
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		172 0 52 8.3E-02 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 67 8.1E-02 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 53 8.0E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 66 8.0E-02 1 5.2E-03