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: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		34 0 17 0.22 0 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		37 0 16 0.20 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 6 23 0.19 1 9.1E-02
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 23 0.18 0 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 0 26 0.17 0 0
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		49 0 16 0.17 0 0
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		25 0 12 0.16 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 5 13 0.16 1 1.0E-01
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		15 0 10 0.15 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 19 0.15 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 21 0.15 0 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		43 0 13 0.14 0 0
CUI: C1865200
Disease: Delayed epiphyseal ossification
Delayed epiphyseal ossification 		13 0 9 0.14 0 0
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		38 13 12 0.14 1 5.6E-02
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		15 0 9 0.14 0 0
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		19 0 9 0.13 0 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		31 0 10 0.12 0 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		24 0 9 0.12 0 0
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		71 0 14 0.12 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 18 0.12 0 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		27 0 9 0.12 0 0
CUI: C1838663
Disease: Enlargement of the wrists
Enlargement of the wrists 		8 0 7 0.11 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 16 0.11 0 0
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		9 0 7 0.11 0 0
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension 		26 0 8 0.10 0 0