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 35 134 0.25 8 0.16
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 21 33 9.1E-02 6 0.16
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		23 8 14 5.1E-02 4 0.15
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 108 0.19 6 0.13
CUI: C0239676
Disease: High forehead
High forehead 		211 17 58 0.14 4 0.11
CUI: C0542223
Disease: Loss of speech
Loss of speech 		37 8 3 1.0E-02 3 0.11
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 19 23 6.8E-02 4 0.11
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 34 0.10 6 0.11
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 99 0.18 6 9.1E-02
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 14 11 3.5E-02 3 8.8E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 128 0.23 5 8.8E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 138 0.19 8 8.7E-02
CUI: C1844573
Disease: Large earlobe
Large earlobe 		18 2 11 4.0E-02 2 8.7E-02
CUI: C1844731
Disease: Hypoplastic nasal tip
Hypoplastic nasal tip 		2 2 1 3.8E-03 2 8.7E-02
CUI: C1848850
Disease: Nevus flammeus of the forehead
Nevus flammeus of the forehead 		4 2 1 3.7E-03 2 8.7E-02
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle 		5 2 1 3.7E-03 2 8.7E-02
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		32 3 16 5.7E-02 2 8.3E-02
CUI: C4024829
Disease: Nevus flammeus nuchae
Nevus flammeus nuchae 		2 3 1 3.8E-03 2 8.3E-02
CUI: C0575802
Disease: Small hand
Small hand 		108 31 34 0.10 4 8.0E-02
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 4 17 5.6E-02 2 8.0E-02
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases 		6 4 2 7.4E-03 2 8.0E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 19 25 7.6E-02 3 7.7E-02
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		42 5 17 5.9E-02 2 7.7E-02
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		28 5 10 3.5E-02 2 7.7E-02
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 19 10 3.4E-02 3 7.7E-02