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: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy
7 0 4 9.5E-02 0 0
Abnormality of immune system physiology
42 0 7 9.5E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation
32 0 6 9.2E-02 0 0
Hearing Loss, Mixed Conductive-Sensorineural
23 0 5 8.8E-02 0 0
CUI: C1851792
Disease: Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the earlobes
11 0 4 8.7E-02 0 0
Partial duplication of thumb phalanx
12 0 4 8.5E-02 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth
192 0 18 8.5E-02 0 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula
80 0 9 8.2E-02 0 0
CUI: C2750604
Disease: Median cleft lip and palate
Median cleft lip and palate
15 0 4 8.0E-02 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
274 0 23 7.9E-02 0 0
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum
30 0 5 7.8E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
182 0 16 7.8E-02 0 0
CUI: C1840528
Disease: HOLOPROSENCEPHALY 4 (disorder)
HOLOPROSENCEPHALY 4 (disorder)
3 0 3 7.7E-02 0 0
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5
3 0 3 7.7E-02 0 0
Chromosomal mosaicism due to mitotic instability
3 0 3 7.7E-02 0 0
CUI: C4021343
Disease: Broad hallux phalanx
Broad hallux phalanx
17 0 4 7.7E-02 0 0
CUI: C4021638
Disease: Absent nasal septal cartilage
Absent nasal septal cartilage
3 0 3 7.7E-02 0 0
CUI: C3711749
Disease: Nonsyndromic Holoprosencephaly
Nonsyndromic Holoprosencephaly
4 0 3 7.5E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose
265 0 21 7.4E-02 0 0
CUI: C0149955
Disease: Annular pancreas
Annular pancreas
19 0 4 7.4E-02 0 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine
77 0 8 7.4E-02 0 0
Esophageal atresia with or without tracheoesophageal fistula
19 0 4 7.4E-02 0 0
CUI: C4025810
Disease: Abnormal palmar dermatoglyphics
Abnormal palmar dermatoglyphics
5 0 3 7.3E-02 0 0
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
20 0 4 7.3E-02 0 0
CUI: C0021828
Disease: Intestinal Atresia
Intestinal Atresia
20 0 4 7.3E-02 0 0