Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
1 0 1 0.33 0 0
CUI: C1856778
Disease: Widely patent coronal suture
Widely patent coronal suture
1 0 1 0.33 0 0
CUI: C1859116
Disease: Large tarsal bones
Large tarsal bones
1 0 1 0.33 0 0
Absent vertebral body mineralization
1 0 1 0.33 0 0
Spondylometaphyseal dysplasia, Algerian type
1 0 1 0.33 0 0
CUI: C3278138
Disease: FIBROCHONDROGENESIS 1
FIBROCHONDROGENESIS 1
1 0 1 0.33 0 0
CUI: C3281128
Disease: FIBROCHONDROGENESIS 2
FIBROCHONDROGENESIS 2
1 0 1 0.33 0 0
CUI: C4015965
Disease: MARSHALL/STICKLER SYNDROME
MARSHALL/STICKLER SYNDROME
1 0 1 0.33 0 0
CUI: C4020803
Disease: Abnormal type II collagen
Abnormal type II collagen
1 0 1 0.33 0 0
CUI: C4020907
Disease: Metaphyseal dappling
Metaphyseal dappling
1 0 1 0.33 0 0
Abnormality of vertebral epiphysis morphology
1 0 1 0.33 0 0
CUI: C4021259
Disease: Limitation of knee mobility
Limitation of knee mobility
1 0 1 0.33 0 0
Short distal phalanx of the 4th finger
1 0 1 0.33 0 0
CUI: C4021615
Disease: Abnormal metacarpal morphology
Abnormal metacarpal morphology
1 0 1 0.33 0 0
Short distal phalanx of the 3rd finger
1 0 1 0.33 0 0
CUI: C4021847
Disease: Abnormal cartilage collagen
Abnormal cartilage collagen
1 0 1 0.33 0 0
CUI: C4021906
Disease: Splayed epiphyses
Splayed epiphyses
1 0 1 0.33 0 0
CUI: C4022181
Disease: Meningeal calcification
Meningeal calcification
1 0 1 0.33 0 0
CUI: C4022969
Disease: Small proximal tibial epiphyses
Small proximal tibial epiphyses
1 0 1 0.33 0 0
CUI: C4022970
Disease: Small distal femoral epiphysis
Small distal femoral epiphysis
1 0 1 0.33 0 0
CUI: C4024728
Disease: Delayed calcaneal ossification
Delayed calcaneal ossification
1 0 1 0.33 0 0
CUI: C4025045
Disease: Irregular proximal tibial epiphyses
Irregular proximal tibial epiphyses
1 0 1 0.33 0 0
CUI: C4025121
Disease: Metaphyseal enchondromatosis
Metaphyseal enchondromatosis
1 0 1 0.33 0 0
CUI: C4025254
Disease: Absent styloid process of ulna
Absent styloid process of ulna
1 0 1 0.33 0 0
Aplasia/Hypoplasia of the capital femoral epiphysis
1 0 1 0.33 0 0