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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 5 1.0E-02 1 1.6E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 8 7.8E-03 1 1.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 37 1.7E-02 2 3.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 17 9.1E-03 1 1.8E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 6 5.1E-03 1 3.4E-03
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 13 2.0E-02 1 3.5E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 4 6.5E-03 1 5.2E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 4 7.3E-03 1 6.0E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 13 1.3E-02 1 6.1E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 12 1.3E-02 1 7.4E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 131 1 6.0E-03 1 7.6E-03
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		480 105 14 2.6E-02 2 1.9E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 6 6.7E-03 1 1.0E-02
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 90 5 9.2E-03 1 1.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 2 2.6E-03 1 1.1E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 7 1.2E-02 1 1.1E-02
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		351 81 5 1.2E-02 1 1.2E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 2 6.8E-03 1 1.4E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 6 1.1E-02 1 1.4E-02
CUI: C0015672
Disease: Fatigue
Fatigue 		760 67 7 8.6E-03 1 1.5E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 10 1.9E-02 2 3.2E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 61 11 1.2E-02 1 1.6E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 6 9.2E-03 1 1.7E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 2 2.0E-02 2 3.6E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 4 1.9E-02 1 1.9E-02