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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 88 4.7E-02 7 1.3E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 12 4.1E-02 6 4.7E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 49 0.10 5 8.8E-02
CUI: C0575802
Disease: Small hand
Small hand 		108 31 22 9.9E-02 5 0.13
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 19 6.4E-02 4 9.3E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 17 4.3E-02 4 3.5E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 31 4.7E-02 4 2.0E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 10 6.0E-02 4 6.2E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 14 5.0E-02 4 0.12
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 19 7.7E-02 4 0.13
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 57 8.5E-02 3 3.4E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 71 0.11 3 4.8E-02
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		18 11 3 2.0E-02 3 0.14
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 27 5.0E-02 3 3.6E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 13 4.1E-02 3 5.0E-02
CUI: C0231255
Disease: Decreased body mass index
Decreased body mass index 		3 3 2 1.4E-02 3 0.23
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 43 7.3E-02 3 3.7E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 72 6.0E-02 3 9.9E-03
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		13 20 3 2.0E-02 3 1.0E-01
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		19 11 3 2.0E-02 3 0.14
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 49 5.9E-02 3 8.6E-03
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 6 2.6E-02 3 7.3E-02
CUI: C1843108
Disease: Short palm
Short palm 		110 13 12 5.1E-02 3 0.13
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		35 11 6 3.6E-02 3 0.14
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 2 1.3E-02 3 8.1E-02