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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 269 0.24 255 0.27
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 171 0.33 213 0.28
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 110 0.16 75 9.5E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		103 93 60 0.12 45 6.8E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 187 25 5.0E-02 18 2.3E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 308 0.16 17 1.5E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 264 0.11 16 1.4E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 9 2.0E-02 13 1.9E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 203 0.15 12 1.3E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 61 0.11 12 1.4E-02
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 82 11 2.4E-02 10 1.5E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 138 9.1E-02 9 9.5E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 92 0.16 9 8.8E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 47 8.4E-02 8 1.1E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 322 0.14 8 1.0E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 206 0.14 7 1.0E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 179 0.18 7 1.0E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 158 0.18 6 8.7E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		88 6387 12 2.3E-02 6 8.6E-04
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 117 0.16 6 9.1E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 117 0.10 5 7.1E-03
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 27 14 3.0E-02 5 7.8E-03
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		3 46 1 2.3E-03 5 7.6E-03
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		5 29 1 2.3E-03 5 7.8E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 142 0.16 5 7.4E-03