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: C0544755
Disease: Genu varum
Genu varum 		60 0 10 7.6E-02 0 0
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		19 0 7 7.4E-02 0 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		63 0 10 7.4E-02 0 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		37 0 8 7.2E-02 0 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		67 0 10 7.2E-02 0 0
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0 		67 0 10 7.2E-02 0 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		84 0 11 7.1E-02 0 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		39 0 8 7.1E-02 0 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 0 13 7.0E-02 0 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		41 0 8 7.0E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 26 6.9E-02 0 0
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		28 0 7 6.8E-02 0 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 14 6.8E-02 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 17 6.7E-02 0 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		31 0 7 6.6E-02 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 0 12 6.6E-02 0 0
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		15 0 6 6.6E-02 0 0
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		15 0 6 6.6E-02 0 0
CUI: C3536984
Disease: Vitamin D-Resistant Rickets, X-Linked
Vitamin D-Resistant Rickets, X-Linked 		48 0 8 6.6E-02 0 0
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		16 0 6 6.5E-02 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		148 0 14 6.5E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 17 6.5E-02 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 10 6.5E-02 0 0
CUI: C1861329
Disease: Spinal canal stenosis
Spinal canal stenosis 		35 0 7 6.4E-02 0 0
CUI: C0877430
Disease: Asthma chronic
Asthma chronic 		36 0 7 6.3E-02 0 0