Source: CLINVAR ×
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 		336 579 200 0.42 255 0.27
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 162 0.40 213 0.28
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 88 0.22 75 9.7E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 52 0.14 45 6.8E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 8 2.4E-02 18 2.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 103 0.19 15 1.4E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 78 0.16 14 1.4E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 52 0.11 12 1.3E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 56 0.13 12 1.4E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 7 2.1E-02 12 1.8E-02
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		4 70 2 5.9E-03 9 1.3E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 86 0.19 9 8.9E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 34 8.7E-02 8 1.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 32 8.8E-02 7 1.0E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 32 8.7E-02 6 8.8E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 6385 6 1.5E-02 6 8.6E-04
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 19 5.4E-02 6 9.2E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 24 6.4E-02 5 7.3E-03
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		2 46 1 3.0E-03 5 7.7E-03
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		1 29 1 3.0E-03 5 7.9E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 25 7.0E-02 5 7.4E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 44 0.11 5 6.5E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 8 2.2E-02 4 3.7E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		32 36 5 1.4E-02 4 6.2E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		4 320 2 5.9E-03 4 4.3E-03