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: C1833324
Disease: Sparse bone trabeculae
Sparse bone trabeculae 		5 0 5 0.38 0 0
CUI: C1833329
Disease: Bulging epiphyses
Bulging epiphyses 		5 0 5 0.38 0 0
CUI: C1838664
Disease: Enlargement of the ankles
Enlargement of the ankles 		6 0 5 0.36 0 0
CUI: C1838663
Disease: Enlargement of the wrists
Enlargement of the wrists 		8 0 5 0.31 0 0
CUI: C1838659
Disease: Deformed rib cage
Deformed rib cage 		4 0 4 0.31 0 0
CUI: C1848538
Disease: Bulging of the costochondral junction
Bulging of the costochondral junction 		4 0 4 0.31 0 0
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		9 0 5 0.29 0 0
CUI: C1833325
Disease: Thin bony cortex
Thin bony cortex 		14 0 6 0.29 0 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		34 0 9 0.24 0 0
CUI: C1833331
Disease: Increased serum 1,25-dihydroxyvitamin D3
Increased serum 1,25-dihydroxyvitamin D3 		3 0 3 0.23 0 0
CUI: C4476534
Disease: Subperiosteal bone resorption
Subperiosteal bone resorption 		3 0 3 0.23 0 0
CUI: C1857180
Disease: Enlargement of the costochondral junction
Enlargement of the costochondral junction 		8 0 3 0.17 0 0
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		2 0 2 0.15 0 0
CUI: C0851535
Disease: Prostatic disorders (excl infections and inflammations)
Prostatic disorders (excl infections and inflammations) 		2 0 2 0.15 0 0
CUI: C1334277
Disease: Invasive Ductal and Lobular Carcinoma
Invasive Ductal and Lobular Carcinoma 		2 0 2 0.15 0 0
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		2 0 2 0.15 0 0
CUI: C1849300
Disease: Widely patent fontanelles and sutures
Widely patent fontanelles and sutures 		17 0 4 0.15 0 0
CUI: C1865185
Disease: Spondyloepimetaphyseal Dysplasia, Shohat Type
Spondyloepimetaphyseal Dysplasia, Shohat Type 		2 0 2 0.15 0 0
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		25 0 5 0.15 0 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		25 0 5 0.15 0 0
CUI: C0566888
Disease: Narrow sacrosciatic notch
Narrow sacrosciatic notch 		10 0 3 0.15 0 0
CUI: C1851542
Disease: Limited hip movement
Limited hip movement 		10 0 3 0.15 0 0
CUI: C1855841
Disease: Hypocalcemic seizures
Hypocalcemic seizures 		11 0 3 0.14 0 0
CUI: C1866700
Disease: Irregular, rachitic-like metaphyses
Irregular, rachitic-like metaphyses 		3 0 2 0.14 0 0
CUI: C0544755
Disease: Genu varum
Genu varum 		60 0 9 0.14 0 0