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 10 2.1E-02 1 1.6E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 22 2.2E-02 1 1.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 24 1.1E-02 1 1.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 32 1.7E-02 2 3.6E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 22 2.9E-02 1 3.0E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 9 1.5E-02 1 5.2E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 16 1.6E-02 1 6.1E-03
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		480 105 3 5.8E-03 1 9.4E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 10 1.2E-02 1 1.0E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		103 93 9 6.8E-02 1 1.1E-02
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 90 7 1.3E-02 1 1.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 13 1.8E-02 1 1.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 14 2.3E-02 1 1.3E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 12 2.6E-02 1 1.3E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 10 1.9E-02 1 1.4E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 12 2.0E-02 1 1.4E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 14 2.7E-02 1 1.5E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 8 1.6E-02 1 1.6E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 2 1.3E-02 1 1.7E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 4 4.7E-02 1 1.7E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 3 6.5E-03 1 1.7E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 5 2.6E-02 1 1.9E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 4 9.4E-03 1 2.0E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 7 4.3E-02 1 2.0E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 9 2.1E-02 1 2.0E-02