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: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1
49 0 10 8.1E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 14 8.0E-02 0 0
Absent or minimally ossified vertebral bodies
9 0 7 8.0E-02 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
137 0 16 7.8E-02 0 0
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental
82 0 12 7.7E-02 0 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney
96 0 13 7.7E-02 0 0
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts
14 0 7 7.6E-02 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
255 282 24 7.6E-02 2 6.8E-03
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
29 0 8 7.5E-02 0 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs
29 0 8 7.5E-02 0 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter
72 0 11 7.5E-02 0 0
CUI: C0426421
Disease: Wide nose
Wide nose
87 0 12 7.5E-02 0 0
CUI: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis
30 0 8 7.5E-02 0 0
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
175 0 18 7.4E-02 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly
45 0 9 7.4E-02 0 0
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain
46 0 9 7.4E-02 0 0
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia
17 0 7 7.4E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 39 35 7.4E-02 1 2.0E-02
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis
253 0 23 7.3E-02 0 0
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
107 0 13 7.3E-02 0 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
64 0 10 7.2E-02 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
228 0 21 7.2E-02 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
109 0 13 7.2E-02 0 0
CUI: C1843108
Disease: Short palm
Short palm
110 0 13 7.1E-02 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
171 0 17 7.1E-02 0 0