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 0.20 0 0
Obstruction of pelviureteric junction
14 0 5 0.19 0 0
CUI: C1835796
Disease: Crossed fused renal ectopia
Crossed fused renal ectopia
10 0 4 0.17 0 0
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow
20 0 5 0.15 0 0
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae
13 0 4 0.15 0 0
CUI: C0341059
Disease: Lip pit
Lip pit
14 0 4 0.14 0 0
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system
19 0 4 0.12 0 0
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger
20 0 4 0.12 0 0
CUI: C1857479
Disease: Short columella
Short columella
20 0 4 0.12 0 0
CUI: C1835798
Disease: Anoperineal fistula
Anoperineal fistula
2 0 2 0.11 0 0
CUI: C4023450
Disease: Prominent eyelashes
Prominent eyelashes
3 0 2 0.11 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly
3 0 2 0.11 0 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice
14 0 3 0.10 0 0
Congenital hypoplasia of aortic arch
4 0 2 1.0E-01 0 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra
49 0 6 9.8E-02 0 0
CUI: C1844891
Disease: Ulnar deviation of the 2nd finger
Ulnar deviation of the 2nd finger
6 1 2 9.1E-02 1 0.33
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal
18 0 3 9.1E-02 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
44 0 5 8.8E-02 0 0
Premature development of the breasts
7 0 2 8.7E-02 0 0
CUI: C1864853
Disease: Increased vertebral height
Increased vertebral height
7 0 2 8.7E-02 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth
71 0 7 8.5E-02 0 0
Macrodontia of permanent maxillary central incisor
8 0 2 8.3E-02 0 0
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1
8 266 2 8.3E-02 1 3.7E-03
CUI: C0240182
Disease: Leukonychia
Leukonychia
9 0 2 8.0E-02 0 0
CUI: C1865992
Disease: Short hallux
Short hallux
23 0 3 7.9E-02 0 0