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: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 53 0.10 2 3.4E-02
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 33 0.10 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 41 0.10 2 5.1E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 44 1.0E-01 1 1.5E-02
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 15 23 1.0E-01 2 5.3E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 21 26 9.9E-02 3 7.0E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 40 9.8E-02 2 3.8E-02
CUI: C1835884
Disease: Triangular face
Triangular face 		111 16 24 9.8E-02 1 2.5E-02
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		138 26 26 9.6E-02 2 4.1E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 0 30 9.5E-02 0 0
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		49 19 18 9.5E-02 2 4.8E-02
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 34 9.4E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 37 9.4E-02 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 30 9.4E-02 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 13 23 9.3E-02 3 8.6E-02
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 18 23 9.3E-02 1 2.4E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 31 9.2E-02 1 1.9E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 31 9.1E-02 2 5.0E-02
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 22 9.1E-02 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 22 9.1E-02 2 6.1E-02
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		82 0 20 9.0E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 34 9.0E-02 1 2.7E-03
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 25 9.0E-02 0 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 13 24 9.0E-02 2 5.6E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 28 8.9E-02 3 6.4E-02