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: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 0 6 9.2E-02 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 9 9.1E-02 0 0
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers 		31 0 6 9.1E-02 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 0 27 9.0E-02 0 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 0 9 8.9E-02 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 7 8.9E-02 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 10 8.7E-02 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 10 8.6E-02 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 0 8 8.6E-02 0 0
CUI: C4048199
Disease: Ulnar deviation of the hand or of fingers of the hand
Ulnar deviation of the hand or of fingers of the hand 		11 0 4 8.3E-02 0 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		78 0 9 8.2E-02 0 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		53 0 7 8.0E-02 0 0
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		67 0 8 8.0E-02 0 0
CUI: C1837835
Disease: Bilateral talipes equinovarus
Bilateral talipes equinovarus 		16 0 4 7.5E-02 0 0
CUI: C3150086
Disease: Aplasia/Hypoplasia of the nipples
Aplasia/Hypoplasia of the nipples 		16 0 4 7.5E-02 0 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 5 11 7.5E-02 1 0.14
CUI: C0920299
Disease: Overriding toe
Overriding toe 		47 0 6 7.3E-02 0 0
CUI: C1859235
Disease: Intrahepatic biliary dysgenesis
Intrahepatic biliary dysgenesis 		3 0 3 7.3E-02 0 0
CUI: C4025132
Disease: Shortening of all distal phalanges of the toes
Shortening of all distal phalanges of the toes 		3 0 3 7.3E-02 0 0
CUI: C1840069
Disease: Sandal gap
Sandal gap 		62 0 7 7.3E-02 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 7 7.2E-02 0 0
CUI: C1855544
Disease: Enlarged metaphyses
Enlarged metaphyses 		4 0 3 7.1E-02 0 0
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		4 0 3 7.1E-02 0 0
CUI: C1865841
Disease: Flared iliac wings
Flared iliac wings 		19 0 4 7.1E-02 0 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		65 0 7 7.1E-02 0 0