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: C0266111
Disease: Bifid tongue
Bifid tongue 		24 0 12 0.12 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 25 0.12 0 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		83 0 17 0.11 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 36 0.11 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 19 0.10 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 34 1.0E-01 1 3.4E-02
CUI: C0024421
Disease: Macroglossia
Macroglossia 		115 0 18 9.8E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 33 9.8E-02 0 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 0 16 9.6E-02 0 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		96 0 16 9.6E-02 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 17 9.5E-02 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 0 17 9.4E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 35 9.4E-02 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		79 0 14 9.2E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 10 9.2E-02 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 16 9.1E-02 0 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 0 13 9.1E-02 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 41 8.9E-02 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 18 8.7E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 38 8.6E-02 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 15 8.5E-02 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 10 8.4E-02 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 0 17 8.3E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 27 8.3E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 39 8.2E-02 0 0