Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Abnormality of pelvic girdle bone morphology
55 0 11 0.15 0 0
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia
17 0 6 0.15 0 0
CUI: C0025995
Disease: Micromelia
Micromelia
104 0 16 0.14 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers
92 0 14 0.13 0 0
CUI: C0685787
Disease: Cleft face
Cleft face
23 0 6 0.13 0 0
Short rib-polydactyly syndrome, Beemer type
6 0 4 0.13 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
112 18 16 0.13 1 7.5E-03
CUI: C0266111
Disease: Bifid tongue
Bifid tongue
24 0 6 0.13 0 0
Disproportionate short-limb short stature
35 0 7 0.12 0 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax
26 7 6 0.12 2 1.7E-02
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital
63 2 10 0.12 1 8.5E-03
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
96 103 13 0.12 5 2.3E-02
CUI: C0266231
Disease: Ectopic anus
Ectopic anus
20 0 5 0.11 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
69 0 10 0.11 0 0
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia
11 22 4 0.11 2 1.5E-02
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver
75 0 10 0.11 0 0
CUI: C4023039
Disease: Rhizomelic leg shortening
Rhizomelic leg shortening
3 0 3 0.10 0 0
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
3 2 3 0.10 1 8.5E-03
CUI: C1832988
Disease: Metaphyseal spurs
Metaphyseal spurs
4 2 3 1.0E-01 2 1.7E-02
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL
61 0 8 9.8E-02 0 0
CUI: C3808270
Disease: Acetabular spurs
Acetabular spurs
5 0 3 9.7E-02 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis
97 0 11 9.6E-02 0 0
Proximal femoral metaphyseal irregularity
7 0 3 9.1E-02 0 0
CUI: C1969532
Disease: Rhizomelic arm shortening
Rhizomelic arm shortening
7 0 3 9.1E-02 0 0
Aplasia/Hypoplasia involving the pelvis
8 13 3 8.8E-02 11 9.3E-02