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: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		81 4 81 0.49 4 3.3E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 10 111 0.12 4 3.1E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 34 0.12 31 9.2E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 56 9.6E-02 12 7.0E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 47 8.4E-02 8 1.1E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 30 8.2E-02 16 9.0E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 28 8.0E-02 14 2.7E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 21 7.9E-02 12 8.1E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 15 7.5E-02 15 9.1E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 13 7.4E-02 15 0.11
CUI: C0456070
Disease: Growth delay
Growth delay 		244 40 27 7.0E-02 8 5.2E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 43 7.0E-02 7 3.9E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 38 6.8E-02 4 2.1E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 72 6.8E-02 25 3.7E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 13 6.7E-02 12 7.2E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 70 6.7E-02 24 9.2E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 36 6.6E-02 3 2.0E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 21 6.5E-02 6 4.3E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 16 6.3E-02 14 0.10
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 43 6.3E-02 16 5.4E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 21 6.2E-02 5 3.0E-02
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 32 22 6.2E-02 2 1.3E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 32 6.2E-02 9 5.6E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 24 6.1E-02 6 1.3E-02
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		97 12 15 6.0E-02 6 4.7E-02