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: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 26 37 0.12 1 2.3E-02
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 34 0.11 1 1.2E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 31 0.10 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 19 8.4E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 36 8.3E-02 1 2.6E-02
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 20 8.3E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 32 8.0E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 35 8.0E-02 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 13 19 7.9E-02 1 3.3E-02
CUI: C1836195
Disease: Short toe
Short toe 		56 3 15 7.9E-02 1 5.0E-02
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 20 7.8E-02 1 2.6E-02
CUI: C0576226
Disease: Short foot
Short foot 		116 0 19 7.8E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 30 7.7E-02 1 1.9E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 24 7.6E-02 0 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 22 7.6E-02 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 31 7.5E-02 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 26 7.5E-02 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 26 7.4E-02 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 16 7.3E-02 0 0
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 90 43 7.3E-02 2 1.9E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 49 7.1E-02 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 0 18 7.0E-02 0 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		234 0 25 7.0E-02 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 0 14 7.0E-02 0 0
CUI: C0024636
Disease: Malocclusion
Malocclusion 		128 0 18 7.0E-02 0 0