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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 104 0.13 6 6.7E-02
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 41 0.13 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		111 16 46 0.13 2 3.8E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 11 50 0.13 4 8.7E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 80 0.13 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 16 43 0.13 4 7.8E-02
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		128 16 47 0.13 1 1.9E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		172 9 52 0.13 3 6.7E-02
CUI: C0578038
Disease: Thin lips
Thin lips 		99 8 43 0.13 1 2.2E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 100 0.13 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 13 44 0.13 2 4.0E-02
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 48 0.12 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 51 0.12 4 6.9E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 80 0.12 1 1.5E-03
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 50 0.12 4 4.5E-02
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 49 0.12 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 51 0.12 5 8.5E-02
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 10 46 0.12 1 2.1E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 56 85 0.12 1 1.1E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 109 0.12 3 8.0E-03
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 9 45 0.12 2 4.3E-02
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 46 0.12 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 54 0.12 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 50 0.12 2 3.6E-02
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 0 47 0.12 0 0