Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Recurrent respiratory tract infections
14 0 1 6.2E-02 0 0
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
14 0 1 6.2E-02 0 0
CUI: C4703439
Disease: Abnormality of fundus pigmentation
Abnormality of fundus pigmentation
14 0 1 6.2E-02 0 0
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula
17 0 1 5.3E-02 0 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly
18 0 1 5.0E-02 0 0
CUI: C0574002
Disease: Edema of foot (finding)
Edema of foot (finding)
19 0 1 4.8E-02 0 0
CUI: C0266231
Disease: Ectopic anus
Ectopic anus
20 0 1 4.5E-02 0 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary
44 0 2 4.4E-02 0 0
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition
22 0 1 4.2E-02 0 0
CUI: C0563243
Disease: Poor coordination
Poor coordination
26 0 1 3.6E-02 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
86 0 3 3.5E-02 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers
92 0 3 3.3E-02 0 0
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL
61 0 2 3.2E-02 0 0
CUI: C1866241
Disease: Broad foot
Broad foot
30 0 1 3.1E-02 0 0
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus
30 0 1 3.1E-02 0 0
CUI: C4551492
Disease: Micropenis
Micropenis
32 0 1 2.9E-02 0 0
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
34 0 1 2.8E-02 0 0
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
37 0 1 2.6E-02 0 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones
40 0 1 2.4E-02 0 0
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis
41 0 1 2.3E-02 0 0
CUI: C1836189
Disease: Radial deviation of finger
Radial deviation of finger
42 0 1 2.3E-02 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly
45 0 1 2.1E-02 0 0
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome
94 0 2 2.1E-02 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
48 0 1 2.0E-02 0 0
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome
52 0 1 1.9E-02 0 0