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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 287 0.25 7 3.2E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 192 0.22 5 4.4E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 187 0.21 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 226 0.21 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 252 0.20 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 369 0.19 28 4.8E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 230 0.19 16 2.6E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 101 0.19 4 5.6E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 186 0.19 7 4.9E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 109 0.18 7 5.5E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 183 0.16 9 6.1E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 175 0.16 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 175 0.16 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 15 108 0.16 1 1.3E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 130 0.16 4 3.3E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 106 0.15 5 3.6E-02
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 119 0.15 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 119 0.15 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 17 82 0.15 5 6.8E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 131 0.15 8 3.3E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 123 0.15 9 7.3E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 120 0.14 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 108 0.14 2 1.8E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 108 0.14 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 132 0.14 7 6.5E-02