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: C0426891
Disease: Broad thumbs
Broad thumbs 		67 11 17 0.13 1 3.4E-02
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 0 23 0.13 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 9 28 0.12 2 7.7E-02
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 22 0.12 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 29 0.12 3 0.11
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 8 16 0.12 1 3.8E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 21 22 0.12 2 5.3E-02
CUI: C0024636
Disease: Malocclusion
Malocclusion 		128 10 21 0.11 1 3.6E-02
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 18 23 0.11 1 2.8E-02
CUI: C1398312
Disease: Narrow palate
Narrow palate 		40 0 12 0.11 0 0
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		30 17 11 0.11 7 0.24
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 25 18 0.11 7 0.19
CUI: C1853241
Disease: Flat face
Flat face 		83 0 16 0.11 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 34 0.11 2 3.8E-02
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 24 0.11 0 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 4 21 0.10 1 4.5E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 34 0.10 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 54 0.10 9 0.11
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 14 0.10 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 15 9.9E-02 1 2.9E-02
CUI: C0575802
Disease: Small hand
Small hand 		108 31 17 9.8E-02 2 4.2E-02
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 13 17 9.8E-02 3 0.10
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 26 9.7E-02 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 21 27 9.6E-02 2 5.3E-02
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 0 21 9.5E-02 0 0