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: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 5 18 0.13 3 0.27
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 0 16 0.12 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 0 22 0.11 0 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		25 4 11 0.11 1 8.3E-02
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 15 9.6E-02 0 0
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		41 0 11 9.6E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 49 9.3E-02 1 1.4E-02
CUI: C1848977
Disease: Short upper lip
Short upper lip 		12 0 8 9.0E-02 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 17 8.9E-02 0 0
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		40 0 10 8.7E-02 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 18 8.7E-02 0 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		41 0 10 8.6E-02 0 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		41 0 10 8.6E-02 0 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 5 9 8.5E-02 1 7.7E-02
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 13 8.3E-02 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 38 8.2E-02 1 2.6E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 34 8.2E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 13 8.1E-02 0 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		78 0 12 7.9E-02 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 23 7.9E-02 0 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		53 0 10 7.8E-02 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 20 7.8E-02 0 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		82 19 12 7.7E-02 1 3.7E-02
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		13 0 7 7.7E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 19 7.7E-02 0 0