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 56 5.5E-02 3 5.1E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 55 2.5E-02 1 1.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 74 4.0E-02 3 5.3E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 21 7.0E-02 2 4.7E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 84 7.3E-02 5 1.7E-02
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 282 7 1.9E-02 1 3.4E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 9 1.9E-02 1 3.8E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 15 5.9E-02 2 7.7E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 36 5.7E-02 2 9.7E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 46 4.5E-02 3 1.7E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 65 7.3E-02 3 2.0E-02
CUI: C0332563
Disease: Papule
Papule 		76 131 8 4.5E-02 1 6.8E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 12 4.5E-02 1 7.3E-03
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 16 1.6E-02 2 1.5E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 5 9.1E-03 1 7.4E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 16 4.4E-02 1 8.3E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 32 6.9E-02 1 9.0E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 51 6.6E-02 2 1.9E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 27 5.3E-02 1 9.8E-03
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 10 8.1E-02 1 1.0E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 46 5.8E-02 1 1.1E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 14 3.9E-02 1 1.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 58 9.0E-02 4 4.5E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 12 3.6E-02 2 2.3E-02
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		295 70 6 1.5E-02 1 1.2E-02