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: C0521525
Disease: Short neck
Short neck 		288 0 61 0.13 0 0
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		85 0 37 0.13 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 52 0.13 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 109 0.13 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 44 0.13 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 0 85 0.13 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 63 0.13 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 48 0.13 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 74 0.13 0 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		72 0 34 0.12 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 80 0.12 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 69 0.12 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		274 0 56 0.12 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 136 0.12 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 44 0.12 0 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 0 40 0.12 0 0
CUI: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		52 0 31 0.12 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 37 0.12 0 0
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		137 0 40 0.12 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 35 0.12 0 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 38 0.12 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 35 0.12 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 45 0.12 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 48 0.12 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 67 0.12 0 0