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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 171 0.33 213 0.28
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 149 0.14 87 0.10
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 87 0.13 1 2.4E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 98 0.13 4 9.5E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 52 0.13 3 4.0E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 74 0.12 2 5.3E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 71 0.12 3 7.6E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 92 0.12 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 52 0.12 2 5.4E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 73 0.12 2 5.2E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 101 0.12 3 6.9E-03
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 70 0.12 2 4.6E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 87 0.11 2 4.9E-03
CUI: C1854114
Disease: Short nose
Short nose 		265 23 53 0.11 1 2.7E-03
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 56 0.11 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 43 0.11 1 2.7E-03
CUI: C0521525
Disease: Short neck
Short neck 		288 29 54 0.11 2 5.3E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 65 0.11 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 73 0.11 1 2.4E-03
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 66 0.11 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 82 0.11 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 115 0.11 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 51 0.11 1 2.6E-03
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 44 0.11 1 2.7E-03
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 32 0.10 0 0