Source: ALL
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: C3806510
Disease: Horizontal ribs
Horizontal ribs 		13 0 6 0.27 0 0
CUI: C1864853
Disease: Increased vertebral height
Increased vertebral height 		7 0 4 0.22 0 0
CUI: C1865030
Disease: Hypoplastic pubic bone
Hypoplastic pubic bone 		10 0 4 0.19 0 0
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		11 11 4 0.18 1 8.3E-02
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		12 1 4 0.17 1 0.50
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		14 0 4 0.16 0 0
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		8 0 3 0.15 0 0
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III 		2 0 2 0.13 0 0
CUI: C1857638
Disease: Patchy demyelination of subcortical white matter
Patchy demyelination of subcortical white matter 		2 0 2 0.13 0 0
CUI: C2678312
Disease: Three M Syndrome 1
Three M Syndrome 1 		2 0 2 0.13 0 0
CUI: C2931216
Disease: Tetra-amelia autosomal recessive
Tetra-amelia autosomal recessive 		2 0 2 0.13 0 0
CUI: C2931218
Disease: Tetraamelia multiple malformations
Tetraamelia multiple malformations 		2 0 2 0.13 0 0
CUI: C4021777
Disease: Abnormality of the larynx
Abnormality of the larynx 		11 0 3 0.13 0 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		29 0 5 0.13 0 0
CUI: C1857651
Disease: Ivory epiphyses of the phalanges of the hand
Ivory epiphyses of the phalanges of the hand 		3 0 2 0.12 0 0
CUI: C1865027
Disease: Hypoplastic iliac wing
Hypoplastic iliac wing 		22 0 4 0.12 0 0
CUI: C1849953
Disease: Square pelvis bone
Square pelvis bone 		4 0 2 0.12 0 0
CUI: C1857645
Disease: Slender nose
Slender nose 		4 0 2 0.12 0 0
CUI: C1857707
Disease: Increased cellular sensitivity to UV light
Increased cellular sensitivity to UV light 		4 0 2 0.12 0 0
CUI: C4025610
Disease: Peripheral dysmyelination
Peripheral dysmyelination 		4 0 2 0.12 0 0
CUI: C0235357
Disease: Hypoplasia of teeth
Hypoplasia of teeth 		14 0 3 0.12 0 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 4 0.11 0 0
CUI: C0235857
Disease: Decreased lacrimation
Decreased lacrimation 		6 0 2 0.11 0 0
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue 		6 0 2 0.11 0 0
CUI: C0426789
Disease: Short thorax
Short thorax 		51 8 6 1.0E-01 1 0.11