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: C3805574
Disease: Increased fracture rate
Increased fracture rate 		123 0 15 9.2E-02 0 0
CUI: C1704375
Disease: Hypophosphatemic Rickets
Hypophosphatemic Rickets 		29 0 7 9.1E-02 0 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		29 0 7 9.1E-02 0 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		30 0 7 9.0E-02 0 0
CUI: C1843331
Disease: Generalized osteosclerosis
Generalized osteosclerosis 		8 0 5 8.6E-02 0 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		34 0 7 8.5E-02 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 7 8.5E-02 0 0
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		9 0 5 8.5E-02 0 0
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		38 0 7 8.1E-02 0 0
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		38 0 7 8.1E-02 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 0 7 8.1E-02 0 0
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		65 0 9 8.1E-02 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 7 8.0E-02 0 0
CUI: C1865200
Disease: Delayed epiphyseal ossification
Delayed epiphyseal ossification 		13 0 5 7.9E-02 0 0
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		43 0 7 7.7E-02 0 0
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		43 0 7 7.7E-02 0 0
CUI: C0035579
Disease: Rickets
Rickets 		72 0 9 7.6E-02 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 7 7.5E-02 0 0
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
Elevated circulating parathyroid hormone level 		18 0 5 7.4E-02 0 0
CUI: C1838659
Disease: Deformed rib cage
Deformed rib cage 		4 0 4 7.3E-02 0 0
CUI: C1848538
Disease: Bulging of the costochondral junction
Bulging of the costochondral junction 		4 0 4 7.3E-02 0 0
CUI: C4024763
Disease: Optic atrophy from cranial nerve compression
Optic atrophy from cranial nerve compression 		4 0 4 7.3E-02 0 0
CUI: C4025164
Disease: Cortical sclerosis
Cortical sclerosis 		4 0 4 7.3E-02 0 0
CUI: C0151825
Disease: Bone pain
Bone pain 		139 0 13 7.2E-02 0 0
CUI: C1833324
Disease: Sparse bone trabeculae
Sparse bone trabeculae 		5 0 4 7.1E-02 0 0