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: C0151940
Disease: Hypocalcemic tetany
Hypocalcemic tetany 		4 0 4 0.36 0 0
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
Elevated circulating parathyroid hormone level 		18 0 7 0.32 0 0
CUI: C4476534
Disease: Subperiosteal bone resorption
Subperiosteal bone resorption 		3 0 3 0.27 0 0
CUI: C1838659
Disease: Deformed rib cage
Deformed rib cage 		4 0 3 0.25 0 0
CUI: C1848538
Disease: Bulging of the costochondral junction
Bulging of the costochondral junction 		4 0 3 0.25 0 0
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism 		5 0 3 0.23 0 0
CUI: C1833324
Disease: Sparse bone trabeculae
Sparse bone trabeculae 		5 0 3 0.23 0 0
CUI: C1833329
Disease: Bulging epiphyses
Bulging epiphyses 		5 0 3 0.23 0 0
CUI: C1838664
Disease: Enlargement of the ankles
Enlargement of the ankles 		6 0 3 0.21 0 0
CUI: C0039621
Disease: Tetany
Tetany 		24 0 6 0.21 0 0
CUI: C1833325
Disease: Thin bony cortex
Thin bony cortex 		14 0 4 0.19 0 0
CUI: C1838663
Disease: Enlargement of the wrists
Enlargement of the wrists 		8 0 3 0.19 0 0
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		2 0 2 0.18 0 0
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		2 0 2 0.18 0 0
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		2 0 2 0.18 0 0
CUI: C4025151
Disease: Increased bone density with cystic changes
Increased bone density with cystic changes 		2 0 2 0.18 0 0
CUI: C4025515
Disease: Cortical subperiosteal resorption of humeral metaphyses
Cortical subperiosteal resorption of humeral metaphyses 		2 0 2 0.18 0 0
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2 		2 0 2 0.18 0 0
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		9 0 3 0.18 0 0
CUI: C1855657
Disease: Calvarial osteosclerosis
Calvarial osteosclerosis 		3 0 2 0.17 0 0
CUI: C1859449
Disease: Thin long bone diaphyses
Thin long bone diaphyses 		3 0 2 0.17 0 0
CUI: C1864105
Disease: Low urinary cyclic AMP response to PTH administration
Low urinary cyclic AMP response to PTH administration 		3 0 2 0.17 0 0
CUI: C1866700
Disease: Irregular, rachitic-like metaphyses
Irregular, rachitic-like metaphyses 		3 0 2 0.17 0 0
CUI: C4022179
Disease: Stenosis of the medullary cavity of the long bones
Stenosis of the medullary cavity of the long bones 		3 0 2 0.17 0 0
CUI: C0342198
Disease: Thyrotoxicosis due to pituitary thyroid hormone resistance
Thyrotoxicosis due to pituitary thyroid hormone resistance 		4 0 2 0.15 0 0