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: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 75 0.15 2 4.9E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 68 0.14 3 7.3E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 89 0.14 3 3.4E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 63 0.14 1 1.6E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 0 38 0.13 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 37 0.13 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 48 0.13 1 3.4E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 63 0.13 2 3.9E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 34 0.12 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 26 0.12 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 46 0.12 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 67 0.12 1 1.3E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 49 0.12 2 3.6E-02
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		35 0 18 0.12 0 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 0 24 0.11 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 22 0.11 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 31 0.11 2 5.7E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 36 0.11 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 32 0.11 1 4.0E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 0 34 0.11 0 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 15 23 0.11 1 3.6E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 40 0.11 2 3.9E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 28 0.11 1 2.6E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 30 0.11 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 43 0.10 0 0