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: C4551971
Disease: Albers-Schonberg Disease, Autosomal Recessive
Albers-Schonberg Disease, Autosomal Recessive 		2 0 2 1.00 0 0
CUI: C0432261
Disease: Osteopetrosis - intermediate type
Osteopetrosis - intermediate type 		3 0 1 0.25 0 0
CUI: C1850134
Disease: Sandwich appearance of vertebral bodies
Sandwich appearance of vertebral bodies 		3 0 1 0.25 0 0
CUI: C1969093
Disease: Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 6 		3 0 1 0.25 0 0
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		4 0 1 0.20 0 0
CUI: C4021624
Disease: Osteosclerosis of the base of the skull
Osteosclerosis of the base of the skull 		4 0 1 0.20 0 0
CUI: C4024763
Disease: Optic atrophy from cranial nerve compression
Optic atrophy from cranial nerve compression 		4 0 1 0.20 0 0
CUI: C4025164
Disease: Cortical sclerosis
Cortical sclerosis 		4 0 1 0.20 0 0
CUI: C0242567
Disease: Opsoclonus
Opsoclonus 		5 0 1 0.17 0 0
CUI: C0432262
Disease: Dysosteosclerosis
Dysosteosclerosis 		5 0 1 0.17 0 0
CUI: C0432593
Disease: Varus angulation
Varus angulation 		6 0 1 0.14 0 0
CUI: C1855895
Disease: Erlenmeyer flask deformity of the femurs
Erlenmeyer flask deformity of the femurs 		7 0 1 0.12 0 0
CUI: C0271344
Disease: Compression of optic nerve
Compression of optic nerve 		8 0 1 0.11 0 0
CUI: C0427543
Disease: Increased blood monocyte number
Increased blood monocyte number 		8 0 1 0.11 0 0
CUI: C1843331
Disease: Generalized osteosclerosis
Generalized osteosclerosis 		8 0 1 0.11 0 0
CUI: C0743360
Disease: Recurrent ear infections
Recurrent ear infections 		11 0 1 8.3E-02 0 0
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma 		12 0 1 7.7E-02 0 0
CUI: C1318518
Disease: Infantile malignant osteopetrosis
Infantile malignant osteopetrosis 		13 0 1 7.1E-02 0 0
CUI: C4272579
Disease: Autosomal Dominant Osteopetrosis
Autosomal Dominant Osteopetrosis 		14 0 1 6.7E-02 0 0
CUI: C0008711
Disease: Chronic rhinitis
Chronic rhinitis 		15 0 1 6.2E-02 0 0
CUI: C1858981
Disease: Antineutrophil antibody positivity
Antineutrophil antibody positivity 		15 0 1 6.2E-02 0 0
CUI: C4023722
Disease: Abnormality of hair texture
Abnormality of hair texture 		15 0 1 6.2E-02 0 0
CUI: C1846546
Disease: Recurrent sinopulmonary infections
Recurrent sinopulmonary infections 		16 0 1 5.9E-02 0 0
CUI: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		16 0 1 5.9E-02 0 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		19 0 1 5.0E-02 0 0