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: C0206641
Disease: Osteochondromatosis
Osteochondromatosis 		10 1 10 0.31 1 2.0E-02
CUI: C1442903
Disease: Exostoses
Exostoses 		37 0 11 0.19 0 0
CUI: C4054043
Disease: Secondary Peripheral Chondrosarcoma
Secondary Peripheral Chondrosarcoma 		6 0 4 0.12 0 0
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		22 0 5 0.10 0 0
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis 		47 0 7 9.7E-02 0 0
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		3 0 3 9.4E-02 0 0
CUI: C4266441
Disease: Thyroid tumor metastasis
Thyroid tumor metastasis 		3 0 3 9.4E-02 0 0
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		5 0 3 8.8E-02 0 0
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity 		8 0 3 8.1E-02 0 0
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		22 0 4 8.0E-02 0 0
CUI: C4021742
Disease: Abnormality of the humerus
Abnormality of the humerus 		10 0 3 7.7E-02 0 0
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		25 0 4 7.5E-02 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 8 7.3E-02 0 0
CUI: C0015302
Disease: External exotoses
External exotoses 		109 0 9 6.8E-02 0 0
CUI: C0018808
Disease: Heart murmur
Heart murmur 		31 0 4 6.8E-02 0 0
CUI: C0267356
Disease: Duodenal perforation
Duodenal perforation 		2 0 2 6.2E-02 0 0
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		19 0 3 6.2E-02 0 0
CUI: C1832229
Disease: Rieger syndrome 2 (disorder)
Rieger syndrome 2 (disorder) 		2 0 2 6.2E-02 0 0
CUI: C1835579
Disease: Rib exostoses
Rib exostoses 		2 0 2 6.2E-02 0 0
CUI: C1835583
Disease: Multiple long-bone exostoses
Multiple long-bone exostoses 		2 0 2 6.2E-02 0 0
CUI: C1851414
Disease: Peripheral nerve compression
Peripheral nerve compression 		2 0 2 6.2E-02 0 0
CUI: C1851415
Disease: Scapular exostoses
Scapular exostoses 		2 0 2 6.2E-02 0 0
CUI: C1851418
Disease: Protuberances at ends of long bones
Protuberances at ends of long bones 		2 0 2 6.2E-02 0 0
CUI: C1851419
Disease: Madelung-like forearm deformities
Madelung-like forearm deformities 		2 0 2 6.2E-02 0 0
CUI: C1859399
Disease: Radial bowing
Radial bowing 		19 0 3 6.2E-02 0 0