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: C0025995
Disease: Micromelia
Micromelia 		104 0 53 0.39 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 37 0.26 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 35 0.24 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 5 23 0.23 2 0.22
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 54 0.23 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 7 28 0.23 2 0.18
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		27 0 20 0.22 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 0 25 0.21 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 45 0.20 2 2.9E-02
CUI: C1854912
Disease: Short long bone
Short long bone 		42 19 21 0.20 1 4.2E-02
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 28 0.19 0 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		31 0 19 0.19 0 0
CUI: C0426789
Disease: Short thorax
Short thorax 		51 0 22 0.19 0 0
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		71 0 25 0.19 0 0
CUI: C0544755
Disease: Genu varum
Genu varum 		60 6 23 0.19 1 9.1E-02
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		41 0 20 0.19 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 0 31 0.19 0 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		24 2 17 0.18 2 0.33
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		37 0 19 0.18 0 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		57 6 22 0.18 2 0.20
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		49 0 20 0.17 0 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		32 0 17 0.17 0 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 0 29 0.17 0 0
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		40 0 17 0.16 0 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		63 0 20 0.16 0 0