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: C0341059
Disease: Lip pit
Lip pit
14 0 6 0.22 0 0
Obstruction of pelviureteric junction
14 0 6 0.22 0 0
CUI: C4025639
Disease: Prolonged G2 phase of cell cycle
Prolonged G2 phase of cell cycle
4 0 4 0.21 0 0
Deficient excision of UV-induced pyrimidine dimers in DNA
4 0 4 0.21 0 0
Eversion of lateral third of lower eyelids
6 0 4 0.19 0 0
Complete duplication of thumb phalanx
8 0 4 0.17 0 0
Chromosomal breakage induced by crosslinking agents
8 0 4 0.17 0 0
CUI: C4025811
Disease: Anemic pallor
Anemic pallor
8 0 4 0.17 0 0
CUI: C1835796
Disease: Crossed fused renal ectopia
Crossed fused renal ectopia
10 0 4 0.16 0 0
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae
13 0 4 0.14 0 0
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia
17 0 4 0.12 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia
73 0 10 0.12 0 0
CUI: C1842878
Disease: Short 5th finger
Short 5th finger
18 0 4 0.12 0 0
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger
20 0 4 0.11 0 0
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow
20 0 4 0.11 0 0
CUI: C1857479
Disease: Short columella
Short columella
20 0 4 0.11 0 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes
30 0 5 0.11 0 0
CUI: C0241391
Disease: Thumb absent
Thumb absent
21 0 4 0.11 0 0
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia
22 0 4 0.11 0 0
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium
22 0 4 0.11 0 0
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula
22 0 4 0.11 0 0
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers
22 0 4 0.11 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
44 0 6 0.11 0 0
CUI: C1835798
Disease: Anoperineal fistula
Anoperineal fistula
2 0 2 0.11 0 0
CUI: C0221365
Disease: Double ureter
Double ureter
34 0 5 0.10 0 0