Source: INFERRED ×
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 		335 611 162 0.40 213 0.28
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 148 0.14 87 0.10
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 85 0.13 1 2.4E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 96 0.13 4 9.5E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 51 0.13 3 4.0E-03
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 52 0.13 2 5.4E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		413 30 73 0.13 2 5.3E-03
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		308 34 61 0.13 2 5.2E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 70 0.13 3 7.6E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		574 0 87 0.12 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		250 0 52 0.12 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 98 0.12 3 6.9E-03
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 43 0.12 1 2.7E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 69 0.12 2 5.2E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 49 84 0.12 2 5.0E-03
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 56 0.12 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		196 240 44 0.11 26 4.6E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 51 0.11 1 2.7E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 83 0.11 3 7.6E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 64 0.11 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 79 0.11 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 32 0.11 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 52 0.11 2 5.3E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 66 72 0.11 1 2.4E-03
CUI: C0027092
Disease: Myopia
Myopia 		325 0 55 0.11 0 0