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: C4024188
Disease: Curved distal phalanges of the hand
Curved distal phalanges of the hand
2 0 2 0.50 0 0
CUI: C0265736
Disease: Congenital anomaly of nose
Congenital anomaly of nose
6 0 2 0.25 0 0
CUI: C0332778
Disease: Diastasis, Bone
Diastasis, Bone
1 0 1 0.25 0 0
CUI: C0409579
Disease: Rheumatic joint disease
Rheumatic joint disease
1 0 1 0.25 0 0
Chronic lymphocytic leukaemia transformation
1 0 1 0.25 0 0
Osteopetrosis and infantile neuroaxonal dystrophy
1 0 1 0.25 0 0
CUI: C1838654
Disease: Nivelon Nivelon Mabille syndrome
Nivelon Nivelon Mabille syndrome
1 0 1 0.25 0 0
Facial palsy secondary to cranial hyperostosis
1 0 1 0.25 0 0
CUI: C1849263
Disease: Sclerotic scapulae
Sclerotic scapulae
1 0 1 0.25 0 0
CUI: C1849276
Disease: Cortically dense long tubular bones
Cortically dense long tubular bones
1 0 1 0.25 0 0
Osteopetrosis, Autosomal Recessive 5
1 0 1 0.25 0 0
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2
1 0 1 0.25 0 0
CUI: C4022507
Disease: Decreased osteoclast count
Decreased osteoclast count
1 0 1 0.25 0 0
CUI: C4225377
Disease: MYASTHENIC SYNDROME, CONGENITAL, 17
MYASTHENIC SYNDROME, CONGENITAL, 17
1 0 1 0.25 0 0
CUI: C4551483
Disease: SCLEROSTEOSIS 1
SCLEROSTEOSIS 1
1 0 1 0.25 0 0
CUI: C0265301
Disease: Sclerosteosis
Sclerosteosis
7 0 2 0.22 0 0
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type
2 0 1 0.20 0 0
Simple syndactyly of fingers - first web
9 0 2 0.18 0 0
CUI: C0458101
Disease: Cervicogenic Headache
Cervicogenic Headache
3 0 1 0.17 0 0
Absence of renal corticomedullary differentiation
3 0 1 0.17 0 0
CUI: C3854652
Disease: Osteoblastic bone metastases
Osteoblastic bone metastases
3 0 1 0.17 0 0
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly
3 0 1 0.17 0 0
CUI: C4025193
Disease: Craniofacial osteosclerosis
Craniofacial osteosclerosis
3 0 1 0.17 0 0
CUI: C4020952
Disease: Fingernail dysplasia
Fingernail dysplasia
11 0 2 0.15 0 0
Optic atrophy from cranial nerve compression
4 0 1 0.14 0 0