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: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		43 0 14 0.26 0 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		23 0 7 0.17 0 0
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping 		10 0 5 0.17 0 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		27 0 7 0.16 0 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		31 0 7 0.14 0 0
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		49 0 9 0.14 0 0
CUI: C1848654
Disease: Broad ribs
Broad ribs 		18 0 5 0.13 0 0
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		19 0 5 0.13 0 0
CUI: C1865841
Disease: Flared iliac wings
Flared iliac wings 		19 0 5 0.13 0 0
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		11 0 4 0.12 0 0
CUI: C0149645
Disease: Cervical myelopathy
Cervical myelopathy 		12 0 4 0.12 0 0
CUI: C1850083
Disease: Irregular ossification at anterior rib ends
Irregular ossification at anterior rib ends 		3 0 3 0.12 0 0
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies 		13 0 4 0.12 0 0
CUI: C1846442
Disease: Hypoplastic acetabulae
Hypoplastic acetabulae 		4 0 3 0.12 0 0
CUI: C1854780
Disease: Flaring of rib cage
Flaring of rib cage 		4 0 3 0.12 0 0
CUI: C1865039
Disease: Cupped ribs
Cupped ribs 		4 0 3 0.12 0 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		34 0 6 0.11 0 0
CUI: C0149887
Disease: Slipped Capital Femoral Epiphyses
Slipped Capital Femoral Epiphyses 		15 0 4 0.11 0 0
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		15 0 4 0.11 0 0
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension 		26 0 5 0.11 0 0
CUI: C3276815
Disease: Stiff skin
Stiff skin 		6 0 3 0.11 0 0
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		28 0 5 0.10 0 0
CUI: C1836320
Disease: Proximal femoral metaphyseal irregularity
Proximal femoral metaphyseal irregularity 		7 0 3 0.10 0 0
CUI: C1850087
Disease: Narrow sacroiliac notch
Narrow sacroiliac notch 		7 0 3 0.10 0 0
CUI: C3552526
Disease: Metaphyseal sclerosis
Metaphyseal sclerosis 		7 0 3 0.10 0 0