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: C4025401
Disease: Irregular carpal bones
Irregular carpal bones 		3 0 3 0.30 0 0
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		15 0 4 0.19 0 0
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		15 0 4 0.19 0 0
CUI: C1850196
Disease: Posterior scalloping of vertebral bodies
Posterior scalloping of vertebral bodies 		3 0 2 0.18 0 0
CUI: C4025674
Disease: Flared femoral metaphysis
Flared femoral metaphysis 		3 0 2 0.18 0 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		23 0 5 0.18 0 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		24 0 5 0.17 0 0
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		4 0 2 0.17 0 0
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		21 0 4 0.15 0 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		37 0 6 0.15 0 0
CUI: C1836688
Disease: Narrow iliac wings
Narrow iliac wings 		8 0 2 0.12 0 0
CUI: C0264172
Disease: Barrel chest
Barrel chest 		18 0 3 0.12 0 0
CUI: C1851542
Disease: Limited hip movement
Limited hip movement 		10 0 2 0.11 0 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		31 0 4 0.11 0 0
CUI: C0000729
Disease: Abdominal Cramps
Abdominal Cramps 		1 0 1 1.0E-01 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		12 0 2 1.0E-01 0 0
CUI: C0234244
Disease: Tissue Pain
Tissue Pain 		1 0 1 1.0E-01 0 0
CUI: C0264081
Disease: Osteoarthropathy of fingers familial
Osteoarthropathy of fingers familial 		1 0 1 1.0E-01 0 0
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		1 0 1 1.0E-01 0 0
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		1 0 1 1.0E-01 0 0
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3 		1 0 1 1.0E-01 0 0
CUI: C0432281
Disease: Pseudochondroplasia
Pseudochondroplasia 		1 0 1 1.0E-01 0 0
CUI: C0562557
Disease: Sexually disinhibited behavior
Sexually disinhibited behavior 		1 0 1 1.0E-01 0 0
CUI: C1327918
Disease: Oculootoradial syndrome
Oculootoradial syndrome 		1 0 1 1.0E-01 0 0
CUI: C1832669
Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		1 0 1 1.0E-01 0 0