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: C0426818
Disease: Thin rib
Thin rib 		42 0 7 9.6E-02 0 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		123 0 14 9.5E-02 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 18 13 9.5E-02 3 0.11
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 12 9.2E-02 0 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		57 0 8 9.2E-02 0 0
CUI: C0345375
Disease: Congenital hypoplasia of femur
Congenital hypoplasia of femur 		22 3 5 9.1E-02 2 0.14
CUI: C3887650
Disease: Adult Rickets
Adult Rickets 		47 0 7 9.0E-02 0 0
CUI: C0595939
Disease: Stillbirth
Stillbirth 		23 0 5 8.9E-02 0 0
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		49 2 7 8.7E-02 2 0.15
CUI: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature 		12 0 4 8.7E-02 0 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		63 5 8 8.6E-02 3 0.20
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping 		13 0 4 8.5E-02 0 0
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension 		26 0 5 8.5E-02 0 0
CUI: C1835473
Disease: Diaphyseal thickening
Diaphyseal thickening 		14 0 4 8.3E-02 0 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		67 6 8 8.2E-02 1 5.6E-02
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		54 122 7 8.2E-02 1 7.5E-03
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		28 0 5 8.2E-02 0 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised 		55 0 7 8.1E-02 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 7 8.1E-02 0 0
CUI: C1854912
Disease: Short long bone
Short long bone 		42 19 6 8.1E-02 6 0.23
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		69 5 8 8.1E-02 1 5.9E-02
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 8 8.1E-02 0 0
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		43 15 6 8.0E-02 1 3.7E-02
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 8 7.9E-02 0 0
CUI: C1833331
Disease: Increased serum 1,25-dihydroxyvitamin D3
Increased serum 1,25-dihydroxyvitamin D3 		3 0 3 7.9E-02 0 0