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: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 35 0.11 1 3.4E-02
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 7 33 0.11 1 7.7E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 66 0.11 1 1.3E-02
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		55 0 22 0.11 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 74 0.11 2 2.4E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 99 0.11 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		79 8 24 0.11 1 7.1E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 58 0.11 0 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		82 0 24 0.11 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 30 0.11 0 0
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers 		31 0 19 0.11 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 34 0.10 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 30 0.10 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 53 0.10 2 3.7E-02
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 29 0.10 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 50 0.10 0 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 27 0.10 0 0
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		69 20 22 0.10 1 3.8E-02
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 25 25 0.10 1 3.2E-02
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 26 0.10 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 36 0.10 0 0
CUI: C1840069
Disease: Sandal gap
Sandal gap 		62 0 21 0.10 0 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		84 0 23 0.10 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 21 9.9E-02 0 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		155 17 29 9.9E-02 1 4.3E-02