Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
2 0 2 0.67 0 0
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
5 0 2 0.33 0 0
Thoracolumbar interpediculate narrowness
1 0 1 0.33 0 0
CUI: C4024856
Disease: Redundant skin on fingers
Redundant skin on fingers
1 0 1 0.33 0 0
CUI: C0426874
Disease: Trident hand
Trident hand
2 0 1 0.25 0 0
CUI: C1864361
Disease: Lower thoracic kyphosis
Lower thoracic kyphosis
2 0 1 0.25 0 0
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
3 0 1 0.20 0 0
CUI: C1864365
Disease: Acromesomelia
Acromesomelia
5 0 1 0.14 0 0
Acromesomelic dysplasia Hunter-Thompson type
5 0 1 0.14 0 0
CUI: C1855185
Disease: Broad phalanx
Broad phalanx
6 0 1 0.12 0 0
CUI: C1842231
Disease: Broad metatarsal
Broad metatarsal
7 0 1 0.11 0 0
CUI: C1864375
Disease: Long hallux
Long hallux
7 0 1 0.11 0 0
CUI: C1695776
Disease: Vertebral wedging
Vertebral wedging
8 0 1 1.0E-01 0 0
Epilepsy, Partial, with Variable Foci
8 0 1 1.0E-01 0 0
CUI: C3897045
Disease: Short Stature Homeobox Deficiency
Short Stature Homeobox Deficiency
8 0 1 1.0E-01 0 0
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis
10 0 1 8.3E-02 0 0
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia
10 0 1 8.3E-02 0 0
CUI: C0423808
Disease: Brachyonychia
Brachyonychia
11 0 1 7.7E-02 0 0
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia
12 0 1 7.1E-02 0 0
CUI: C1842229
Disease: Broad metacarpals
Broad metacarpals
12 0 1 7.1E-02 0 0
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis
13 0 1 6.7E-02 0 0
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies
13 0 1 6.7E-02 0 0
CUI: C0149887
Disease: Slipped Capital Femoral Epiphyses
Slipped Capital Femoral Epiphyses
15 0 1 5.9E-02 0 0
CUI: C1844906
Disease: Broad finger
Broad finger
17 0 1 5.3E-02 0 0
Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type
18 0 1 5.0E-02 0 0