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: C1300260
Disease: Spondyloepimetaphyseal dysplasia, sponastrime type
Spondyloepimetaphyseal dysplasia, sponastrime type 		1 0 1 1.00 0 0
CUI: C1849079
Disease: Lumbar interpedicular narrowing
Lumbar interpedicular narrowing 		1 0 1 1.00 0 0
CUI: C1849081
Disease: Metaphyseal striations
Metaphyseal striations 		2 0 1 0.50 0 0
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		11 0 1 9.1E-02 0 0
CUI: C1842155
Disease: Flat capital femoral epiphysis
Flat capital femoral epiphysis 		11 0 1 9.1E-02 0 0
CUI: C1841684
Disease: Delayed ossification of carpal bones
Delayed ossification of carpal bones 		12 0 1 8.3E-02 0 0
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		16 0 1 6.2E-02 0 0
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		17 0 1 5.9E-02 0 0
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		17 0 1 5.9E-02 0 0
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis 		21 0 1 4.8E-02 0 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		25 0 1 4.0E-02 0 0
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension 		26 0 1 3.8E-02 0 0
CUI: C0549306
Disease: Mesomelia
Mesomelia 		27 0 1 3.7E-02 0 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		34 0 1 2.9E-02 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 0 1 2.9E-02 0 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		37 0 1 2.7E-02 0 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		40 0 1 2.5E-02 0 0
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		45 0 1 2.2E-02 0 0
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		49 0 1 2.0E-02 0 0
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		49 0 1 2.0E-02 0 0
CUI: C1320214
Disease: Invasive Streptococcus pneumoniae disease
Invasive Streptococcus pneumoniae disease 		55 0 1 1.8E-02 0 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		57 0 1 1.8E-02 0 0
CUI: C0544755
Disease: Genu varum
Genu varum 		60 0 1 1.7E-02 0 0
CUI: C0027668
Disease: Neoplasms, Vascular Tissue
Neoplasms, Vascular Tissue 		67 0 1 1.5E-02 0 0
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		67 0 1 1.5E-02 0 0