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: C1969106
Disease: Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Autosomal Recessive 4 		1 0 1 1.00 0 0
CUI: C4330904
Disease: Osteoclast-Rich Osteopetrosis
Osteoclast-Rich Osteopetrosis 		1 0 1 1.00 0 0
CUI: C0432261
Disease: Osteopetrosis - intermediate type
Osteopetrosis - intermediate type 		3 0 1 0.33 0 0
CUI: C1290708
Disease: Osteomyelitis of mandible
Osteomyelitis of mandible 		3 0 1 0.33 0 0
CUI: C1850134
Disease: Sandwich appearance of vertebral bodies
Sandwich appearance of vertebral bodies 		3 0 1 0.33 0 0
CUI: C1969093
Disease: Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 6 		3 0 1 0.33 0 0
CUI: C1839866
Disease: Elevated serum acid phosphatase
Elevated serum acid phosphatase 		4 0 1 0.25 0 0
CUI: C3179239
Disease: Osteopetrosis Autosomal Dominant Type 2
Osteopetrosis Autosomal Dominant Type 2 		4 0 1 0.25 0 0
CUI: C3645711
Disease: Congenital Osteopetrosis
Congenital Osteopetrosis 		4 0 1 0.25 0 0
CUI: C4021624
Disease: Osteosclerosis of the base of the skull
Osteosclerosis of the base of the skull 		4 0 1 0.25 0 0
CUI: C4024763
Disease: Optic atrophy from cranial nerve compression
Optic atrophy from cranial nerve compression 		4 0 1 0.25 0 0
CUI: C4025164
Disease: Cortical sclerosis
Cortical sclerosis 		4 0 1 0.25 0 0
CUI: C0242567
Disease: Opsoclonus
Opsoclonus 		5 0 1 0.20 0 0
CUI: C4551970
Disease: Sclerotic vertebral endplates
Sclerotic vertebral endplates 		5 0 1 0.20 0 0
CUI: C0240231
Disease: Fractures of the long bones
Fractures of the long bones 		6 0 1 0.17 0 0
CUI: C1855895
Disease: Erlenmeyer flask deformity of the femurs
Erlenmeyer flask deformity of the femurs 		7 0 1 0.14 0 0
CUI: C0152009
Disease: White blood cell abnormality
White blood cell abnormality 		8 0 1 0.12 0 0
CUI: C0271344
Disease: Compression of optic nerve
Compression of optic nerve 		8 0 1 0.12 0 0
CUI: C1843331
Disease: Generalized osteosclerosis
Generalized osteosclerosis 		8 0 1 0.12 0 0
CUI: C1318518
Disease: Infantile malignant osteopetrosis
Infantile malignant osteopetrosis 		13 0 1 7.7E-02 0 0
CUI: C4272579
Disease: Autosomal Dominant Osteopetrosis
Autosomal Dominant Osteopetrosis 		14 0 1 7.1E-02 0 0
CUI: C0008711
Disease: Chronic rhinitis
Chronic rhinitis 		15 0 1 6.7E-02 0 0
CUI: C4023722
Disease: Abnormality of hair texture
Abnormality of hair texture 		15 0 1 6.7E-02 0 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		19 0 1 5.3E-02 0 0
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		19 0 1 5.3E-02 0 0