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 the intervertebral disk
30 0 13 0.22 0 0
CUI: C4021986
Disease: Hypoplasia of the ear cartilage
Hypoplasia of the ear cartilage
14 0 9 0.19 0 0
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome
15 0 8 0.16 0 0
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
34 0 10 0.15 0 0
CUI: C2931286
Disease: Warburton Anyane Yeboa syndrome
Warburton Anyane Yeboa syndrome
5 0 5 0.12 0 0
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
6 0 5 0.12 0 0
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
7 0 5 0.11 0 0
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia
39 0 8 0.11 0 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter
19 0 6 0.11 0 0
Mosaic variegated aneuploidy syndrome 1
10 0 5 0.11 0 0
Abnormality of female internal genitalia
31 0 7 0.11 0 0
CUI: C0853877
Disease: Fistula of genitourinary tract
Fistula of genitourinary tract
11 0 5 0.10 0 0
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
12 0 5 0.10 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities
12 0 5 0.10 0 0
CUI: C0042258
Disease: Vaginal Neoplasms
Vaginal Neoplasms
13 0 5 1.0E-01 0 0
CUI: C4551905
Disease: Pulmonary Venous Return Anomaly
Pulmonary Venous Return Anomaly
14 0 5 9.8E-02 0 0
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia
39 0 7 9.5E-02 0 0
CUI: C0013393
Disease: Dysostoses
Dysostoses
16 0 5 9.4E-02 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb
74 0 10 9.4E-02 0 0
Flexion contracture of proximal interphalangeal joint
168 0 18 9.4E-02 0 0
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5
5 0 4 9.3E-02 0 0
Mosaic variegated aneuploidy syndrome
5 0 4 9.3E-02 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished
89 0 11 9.2E-02 0 0
Aplasia/Hypoplasia of the cerebellum
116 0 13 9.0E-02 0 0
CUI: C0340375
Disease: Subaortic stenosis
Subaortic stenosis
19 0 5 8.9E-02 0 0