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: C1838659
Disease: Deformed rib cage
Deformed rib cage 		4 0 4 0.19 0 0
CUI: C1848538
Disease: Bulging of the costochondral junction
Bulging of the costochondral junction 		4 0 4 0.19 0 0
CUI: C1833324
Disease: Sparse bone trabeculae
Sparse bone trabeculae 		5 0 4 0.18 0 0
CUI: C1833329
Disease: Bulging epiphyses
Bulging epiphyses 		5 0 4 0.18 0 0
CUI: C1838664
Disease: Enlargement of the ankles
Enlargement of the ankles 		6 0 4 0.17 0 0
CUI: C1838663
Disease: Enlargement of the wrists
Enlargement of the wrists 		8 0 4 0.16 0 0
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		9 0 4 0.15 0 0
CUI: C1855841
Disease: Hypocalcemic seizures
Hypocalcemic seizures 		11 0 4 0.14 0 0
CUI: C4476534
Disease: Subperiosteal bone resorption
Subperiosteal bone resorption 		3 0 3 0.14 0 0
CUI: C3805969
Disease: Scapular muscle atrophy
Scapular muscle atrophy 		4 2 3 0.14 2 0.14
CUI: C1865200
Disease: Delayed epiphyseal ossification
Delayed epiphyseal ossification 		13 0 4 0.13 0 0
CUI: C1833325
Disease: Thin bony cortex
Thin bony cortex 		14 0 4 0.13 0 0
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets 		7 0 3 0.12 0 0
CUI: C1849300
Disease: Widely patent fontanelles and sutures
Widely patent fontanelles and sutures 		17 0 4 0.12 0 0
CUI: C1857180
Disease: Enlargement of the costochondral junction
Enlargement of the costochondral junction 		8 0 3 0.12 0 0
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		18 146 4 0.11 2 1.3E-02
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 4 6 0.11 2 0.12
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 5 0.11 0 0
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathies 		9 0 3 0.11 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 3 0.11 0 0
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		20 0 4 0.11 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 7 0.11 1 5.0E-02
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		33 5 5 0.10 2 0.12
CUI: C1836057
Disease: Muscle fiber splitting
Muscle fiber splitting 		13 0 3 9.7E-02 0 0
CUI: C3150620
Disease: Distal upper limb muscle weakness
Distal upper limb muscle weakness 		13 3 3 9.7E-02 2 0.13