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 0.36 0 0
CUI: C1833329
Disease: Bulging epiphyses
Bulging epiphyses 		5 0 5 0.36 0 0
CUI: C1838664
Disease: Enlargement of the ankles
Enlargement of the ankles 		6 0 5 0.33 0 0
CUI: C1838663
Disease: Enlargement of the wrists
Enlargement of the wrists 		8 0 5 0.29 0 0
CUI: C1838659
Disease: Deformed rib cage
Deformed rib cage 		4 0 4 0.29 0 0
CUI: C1848538
Disease: Bulging of the costochondral junction
Bulging of the costochondral junction 		4 0 4 0.29 0 0
CUI: C1865200
Disease: Delayed epiphyseal ossification
Delayed epiphyseal ossification 		13 0 6 0.29 0 0
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		9 0 5 0.28 0 0
CUI: C4020957
Disease: Abnormal trabecular bone morphology
Abnormal trabecular bone morphology 		6 0 4 0.25 0 0
CUI: C1849300
Disease: Widely patent fontanelles and sutures
Widely patent fontanelles and sutures 		17 0 6 0.24 0 0
CUI: C1833331
Disease: Increased serum 1,25-dihydroxyvitamin D3
Increased serum 1,25-dihydroxyvitamin D3 		3 0 3 0.21 0 0
CUI: C4476534
Disease: Subperiosteal bone resorption
Subperiosteal bone resorption 		3 0 3 0.21 0 0
CUI: C1855841
Disease: Hypocalcemic seizures
Hypocalcemic seizures 		11 0 4 0.19 0 0
CUI: C3276815
Disease: Stiff skin
Stiff skin 		6 0 3 0.18 0 0
CUI: C1857180
Disease: Enlargement of the costochondral junction
Enlargement of the costochondral junction 		8 0 3 0.16 0 0
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		25 0 5 0.15 0 0
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		2 0 2 0.14 0 0
CUI: C0426433
Disease: Pinched nasal tip
Pinched nasal tip 		2 0 2 0.14 0 0
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		2 0 2 0.14 0 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		34 0 6 0.14 0 0
CUI: C2931375
Disease: Temporomandibular ankylosis
Temporomandibular ankylosis 		2 0 2 0.14 0 0
CUI: C4025739
Disease: Acroosteolysis of distal phalanges (feet)
Acroosteolysis of distal phalanges (feet) 		2 0 2 0.14 0 0
CUI: C0270254
Disease: Hydrops of placenta
Hydrops of placenta 		3 0 2 0.13 0 0
CUI: C0424693
Disease: Broad skull
Broad skull 		3 0 2 0.13 0 0
CUI: C1835384
Disease: Loss of truncal subcutaneous adipose tissue
Loss of truncal subcutaneous adipose tissue 		3 0 2 0.13 0 0