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: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 37 0.26 0 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		37 0 24 0.23 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 35 0.23 0 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		27 0 21 0.21 0 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		24 0 20 0.21 0 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		43 0 23 0.20 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 33 0.20 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 0 25 0.19 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 28 0.19 0 0
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		49 0 22 0.18 0 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		57 6 23 0.18 1 0.12
CUI: C0544755
Disease: Genu varum
Genu varum 		60 0 23 0.18 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 44 0.17 0 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		32 0 18 0.17 0 0
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		71 0 23 0.16 0 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 0 28 0.15 0 0
CUI: C1854912
Disease: Short long bone
Short long bone 		42 0 18 0.15 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 0 17 0.15 0 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		31 0 16 0.15 0 0
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		40 0 17 0.15 0 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		34 0 16 0.14 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 35 0.14 1 1.5E-02
CUI: C0542514
Disease: Blue sclera
Blue sclera 		70 0 20 0.14 0 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		23 0 14 0.14 0 0
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		15 0 13 0.14 0 0