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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 62 0.10 1 1.4E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 100 0.10 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 52 0.10 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 76 0.10 1 8.6E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 106 9.7E-02 4 2.0E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 73 9.6E-02 2 2.2E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 63 9.6E-02 7 7.4E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 43 9.2E-02 1 1.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 61 9.0E-02 1 9.2E-03
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 60 8.9E-02 1 9.7E-03
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 31 8.8E-02 1 1.9E-02
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 33 35 8.7E-02 1 1.4E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 34 8.7E-02 2 3.2E-02
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 24 28 8.4E-02 3 4.9E-02
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 0 31 8.3E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 90 8.0E-02 10 1.6E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 97 8.0E-02 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 18 29 8.0E-02 1 1.8E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 27 8.0E-02 3 3.9E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 71 8.0E-02 5 4.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 153 8.0E-02 15 2.6E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 75 7.9E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 75 7.9E-02 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 40 7.9E-02 2 3.3E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 49 7.9E-02 6 5.6E-02