Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Eversion of lateral third of lower eyelids
6 0 4 0.27 0 0
CUI: C1835796
Disease: Crossed fused renal ectopia
Crossed fused renal ectopia
10 0 4 0.21 0 0
CUI: C0341059
Disease: Lip pit
Lip pit
14 0 4 0.17 0 0
Obstruction of pelviureteric junction
14 0 4 0.17 0 0
CUI: C1835798
Disease: Anoperineal fistula
Anoperineal fistula
2 0 2 0.15 0 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra
49 0 8 0.15 0 0
CUI: C1842878
Disease: Short 5th finger
Short 5th finger
18 0 4 0.15 0 0
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system
19 0 4 0.14 0 0
CUI: C4023450
Disease: Prominent eyelashes
Prominent eyelashes
3 0 2 0.14 0 0
Autosomal dominant spondylocostal dysostosis
3 0 2 0.14 0 0
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger
20 0 4 0.14 0 0
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow
20 0 4 0.14 0 0
CUI: C1857479
Disease: Short columella
Short columella
20 0 4 0.14 0 0
CUI: C0345397
Disease: Accessory rib
Accessory rib
12 0 3 0.14 0 0
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
4 0 2 0.13 0 0
CUI: C0345394
Disease: Hypoplasia of spine
Hypoplasia of spine
5 0 2 0.12 0 0
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3
5 0 2 0.12 0 0
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5
5 0 2 0.12 0 0
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
6 0 2 0.12 0 0
Premature development of the breasts
7 0 2 0.11 0 0
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
7 0 2 0.11 0 0
CUI: C0426816
Disease: Absence of rib
Absence of rib
18 0 3 0.11 0 0
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1
8 0 2 0.11 0 0
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive
8 0 2 0.11 0 0
CUI: C0747651
Disease: Recurrent aspiration pneumonia
Recurrent aspiration pneumonia
11 0 2 9.1E-02 0 0