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: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 13 7.4E-02 15 0.11
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 16 6.3E-02 14 0.10
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 34 0.12 31 9.2E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 70 6.7E-02 24 9.2E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 15 7.5E-02 15 9.1E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 30 8.2E-02 16 9.0E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 12 4.1E-02 12 8.8E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 99 5.2E-02 52 8.3E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 21 7.9E-02 12 8.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 48 5.8E-02 15 7.7E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 68 5.6E-02 29 7.5E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 16 5.7E-02 12 7.5E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 11 5.9E-02 11 7.4E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 31 5.5E-02 11 7.3E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 13 6.7E-02 12 7.2E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 56 9.6E-02 12 7.0E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 19 13 5.3E-02 9 6.8E-02
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		30 25 7 3.7E-02 9 6.5E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 40 4.2E-02 13 6.4E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 19 6.0E-02 10 6.0E-02
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		13 20 6 3.5E-02 8 6.0E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 32 6.2E-02 9 5.6E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 12 3.8E-02 7 5.5E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 18 5.5E-02 8 5.4E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 43 6.3E-02 16 5.4E-02