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: C1835579
Disease: Rib exostoses
Rib exostoses
2 0 2 0.67 0 0
CUI: C1851414
Disease: Peripheral nerve compression
Peripheral nerve compression
2 0 2 0.67 0 0
CUI: C1851415
Disease: Scapular exostoses
Scapular exostoses
2 0 2 0.67 0 0
CUI: C1851418
Disease: Protuberances at ends of long bones
Protuberances at ends of long bones
2 0 2 0.67 0 0
CUI: C1851419
Disease: Madelung-like forearm deformities
Madelung-like forearm deformities
2 0 2 0.67 0 0
CUI: C4025754
Disease: Abnormal pericardium morphology
Abnormal pericardium morphology
2 0 2 0.67 0 0
Multiple osteochondroma of long bone
2 0 2 0.67 0 0
CUI: C4324432
Disease: Hereditary multiple osteochondromas
Hereditary multiple osteochondromas
2 0 2 0.67 0 0
CUI: C1844689
Disease: Pelvic bone exostoses
Pelvic bone exostoses
3 0 2 0.50 0 0
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis
5 0 2 0.33 0 0
CUI: C1335938
Disease: Secondary Chondrosarcoma
Secondary Chondrosarcoma
1 0 1 0.33 0 0
CUI: C2959480
Disease: Necrotizing lymphadenitis
Necrotizing lymphadenitis
1 0 1 0.33 0 0
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
1 6 1 0.33 3 1.0E-01
CUI: C4054043
Disease: Secondary Peripheral Chondrosarcoma
Secondary Peripheral Chondrosarcoma
6 0 2 0.29 0 0
Renal Failure, Progressive, with Hypertension
2 0 1 0.25 0 0
CUI: C0432282
Disease: Dysplasia epiphysealis hemimelica
Dysplasia epiphysealis hemimelica
2 0 1 0.25 0 0
CUI: C1835583
Disease: Multiple long-bone exostoses
Multiple long-bone exostoses
2 0 1 0.25 0 0
CUI: C1856886
Disease: Hypoplastic philtrum
Hypoplastic philtrum
2 0 1 0.25 0 0
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
8 0 2 0.22 0 0
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
10 0 2 0.18 0 0
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis
10 0 2 0.18 0 0
CUI: C4021742
Disease: Abnormality of the humerus
Abnormality of the humerus
10 0 2 0.18 0 0
CUI: C0149645
Disease: Cervical myelopathy
Cervical myelopathy
12 0 2 0.15 0 0
CUI: C0455825
Disease: Left ventricular mass
Left ventricular mass
5 0 1 0.14 0 0
CUI: C0520788
Disease: Posttransfusion viral hepatitis
Posttransfusion viral hepatitis
5 0 1 0.14 0 0