Source: INFERRED ×
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: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 68 4.6E-02 52 9.1E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 32 0.15 31 9.3E-02
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 47 4.0E-02 29 7.6E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 53 5.4E-02 24 3.6E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 56 5.7E-02 24 9.3E-02
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 54 4.1E-02 22 4.3E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		556 192 35 5.7E-02 16 5.4E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 28 9.6E-02 16 9.2E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 40 5.5E-02 15 8.0E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 13 0.13 15 0.12
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 14 0.11 15 9.3E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 14 7.9E-02 14 0.10
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 27 9.9E-02 14 2.7E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 83 34 4.0E-02 13 6.9E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 21 0.11 12 8.3E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		459 62 45 8.9E-02 12 7.1E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 12 0.10 12 7.4E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 14 6.8E-02 12 7.7E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		133 27 12 5.7E-02 12 9.0E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 11 1.0E-01 11 7.6E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 26 5.3E-02 11 7.5E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 17 7.0E-02 10 6.2E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		192 41 20 7.7E-02 9 6.0E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		351 49 24 5.8E-02 9 5.7E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 19 12 7.1E-02 9 7.0E-02