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: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		147 27 40 0.17 3 7.5E-02
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 28 0.14 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 47 0.13 1 1.9E-02
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		23 0 17 0.13 0 0
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		49 0 19 0.12 0 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 31 0.12 0 0
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		36 0 17 0.12 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 32 0.12 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 13 25 0.11 1 3.6E-02
CUI: C0576226
Disease: Short foot
Short foot 		116 0 24 0.11 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 25 0.11 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 23 0.10 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 28 9.8E-02 1 2.9E-02
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 19 9.7E-02 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 19 9.7E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 63 9.7E-02 1 1.5E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 37 9.6E-02 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 36 9.5E-02 2 4.7E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 29 9.4E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 34 9.3E-02 0 0
CUI: C0575802
Disease: Small hand
Small hand 		108 31 20 9.3E-02 1 2.2E-02
CUI: C1840069
Disease: Sandal gap
Sandal gap 		62 6 16 9.2E-02 1 4.8E-02
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 18 9.1E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 52 9.1E-02 2 2.4E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 34 9.0E-02 0 0