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: C0423867
Disease: Fine hair
Fine hair 		69 1 15 0.11 1 0.12
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 18 0.11 2 0.12
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 0 18 0.11 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 7 24 0.11 1 7.1E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 8 25 0.11 2 0.14
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 35 0.11 2 4.4E-02
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		40 0 11 0.10 0 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 0 16 0.10 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 14 19 9.8E-02 1 4.8E-02
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 18 9.5E-02 0 0
CUI: C1840069
Disease: Sandal gap
Sandal gap 		62 0 12 9.3E-02 0 0
CUI: C0426421
Disease: Wide nose
Wide nose 		87 0 14 9.2E-02 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 17 9.2E-02 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 19 9.1E-02 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 21 9.1E-02 0 0
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		137 0 18 9.1E-02 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 12 9.1E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 21 8.7E-02 1 3.1E-02
CUI: C0566620
Disease: Nasal voice
Nasal voice 		93 0 13 8.2E-02 0 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		15 0 7 8.0E-02 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 16 8.0E-02 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 0 14 8.0E-02 0 0
CUI: C1856119
Disease: Low hanging columella
Low hanging columella 		17 0 7 7.9E-02 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 0 18 7.8E-02 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 36 7.6E-02 2 5.7E-02