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: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1
1 0 1 1.0E-01 0 0
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
1 0 1 1.0E-01 0 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
34 0 4 1.0E-01 0 0
CUI: C1840086
Disease: Pectoralis major hypoplasia
Pectoralis major hypoplasia
1 0 1 1.0E-01 0 0
X-linked Dyggve-Melchior-Clausen syndrome
1 0 1 1.0E-01 0 0
CUI: C1846437
Disease: Deformed sella turcica
Deformed sella turcica
1 0 1 1.0E-01 0 0
CUI: C1846446
Disease: Delayed femoral head ossification
Delayed femoral head ossification
1 0 1 1.0E-01 0 0
Multicentric femoral head ossification
1 0 1 1.0E-01 0 0
CUI: C1846478
Disease: Upper limb muscle hypoplasia
Upper limb muscle hypoplasia
1 0 1 1.0E-01 0 0
Digital Arthropathy-Brachydactyly, Familial
1 0 1 1.0E-01 0 0
CUI: C1847408
Disease: Brachytelomesophalangy
Brachytelomesophalangy
1 0 1 1.0E-01 0 0
Progressive alveolar ridge hypertropy
1 0 1 1.0E-01 0 0
Lower thoracic interpediculate narrowness
1 0 1 1.0E-01 0 0
CUI: C1854941
Disease: Beaking of vertebral bodies T12-L3
Beaking of vertebral bodies T12-L3
1 0 1 1.0E-01 0 0
CUI: C1854948
Disease: Varus deformity of humeral neck
Varus deformity of humeral neck
1 0 1 1.0E-01 0 0
CUI: C1854952
Disease: Bullet-shaped phalanges of the hand
Bullet-shaped phalanges of the hand
1 0 1 1.0E-01 0 0
CUI: C1856637
Disease: Spatulate ribs
Spatulate ribs
1 0 1 1.0E-01 0 0
Multicentric ossification of proximal humeral epiphyses
1 0 1 1.0E-01 0 0
Multicentric ossification of proximal femoral epiphyses
1 0 1 1.0E-01 0 0
CUI: C1863734
Disease: Caudal interpedicular narrowing
Caudal interpedicular narrowing
1 0 1 1.0E-01 0 0
CUI: C1866703
Disease: Severe carpal ossification delay
Severe carpal ossification delay
1 0 1 1.0E-01 0 0
CUI: C1867494
Disease: Fragmented, irregular epiphyses
Fragmented, irregular epiphyses
1 0 1 1.0E-01 0 0
CUI: C1868170
Disease: Hypoplasia of deltoid muscle
Hypoplasia of deltoid muscle
1 0 1 1.0E-01 0 0
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism
1 0 1 1.0E-01 0 0
Charcot-Marie-Tooth disease, Type 2C
1 0 1 1.0E-01 0 0