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 0.13 15 0.12
CUI: C1837142
Disease: Poor suck
Poor suck
103 31 14 7.9E-02 14 0.10
CUI: C4317146
Disease: Acid reflux
Acid reflux
50 58 14 0.11 15 9.3E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
160 246 32 0.15 31 9.3E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
942 164 56 5.7E-02 24 9.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech
232 72 28 9.6E-02 16 9.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
1458 505 68 4.6E-02 52 9.1E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
133 27 12 5.7E-02 12 9.0E-02
CUI: C0014877
Disease: Esotropia
Esotropia
121 39 21 0.11 12 8.3E-02
CUI: C0038379
Disease: Strabismus
Strabismus
682 85 40 5.5E-02 15 8.0E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
130 50 14 6.8E-02 12 7.7E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
32 37 11 1.0E-01 11 7.6E-02
CUI: C0349588
Disease: Short stature
Short stature
1122 292 47 4.0E-02 29 7.6E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 39 26 5.3E-02 11 7.5E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
41 56 12 0.10 12 7.4E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
459 62 45 8.9E-02 12 7.1E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
91 19 12 7.1E-02 9 7.0E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
803 83 34 4.0E-02 13 6.9E-02
CUI: C0454641
Disease: Expressive language delay
Expressive language delay
28 25 7 6.4E-02 9 6.7E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
171 54 17 7.0E-02 10 6.2E-02
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly
11 20 6 6.4E-02 8 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: C1836038
Disease: Poor head control
Poor head control
162 13 11 4.6E-02 7 5.6E-02
Small for gestational age (disorder)
181 34 10 3.8E-02 8 5.6E-02