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: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue 		6 0 5 0.33 0 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		11 0 5 0.25 0 0
CUI: C1835384
Disease: Loss of truncal subcutaneous adipose tissue
Loss of truncal subcutaneous adipose tissue 		3 0 3 0.21 0 0
CUI: C1857707
Disease: Increased cellular sensitivity to UV light
Increased cellular sensitivity to UV light 		4 0 3 0.20 0 0
CUI: C0014390
Disease: Entropion
Entropion 		18 0 5 0.19 0 0
CUI: C0037301
Disease: Skin Wrinkling
Skin Wrinkling 		12 0 4 0.18 0 0
CUI: C1837758
Disease: Bird-like facies
Bird-like facies 		12 0 4 0.18 0 0
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins 		6 0 3 0.18 0 0
CUI: C0235357
Disease: Hypoplasia of teeth
Hypoplasia of teeth 		14 0 4 0.17 0 0
CUI: C0426433
Disease: Pinched nasal tip
Pinched nasal tip 		2 0 2 0.14 0 0
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III 		2 0 2 0.14 0 0
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		10 0 3 0.14 0 0
CUI: C1857638
Disease: Patchy demyelination of subcortical white matter
Patchy demyelination of subcortical white matter 		2 0 2 0.14 0 0
CUI: C2931375
Disease: Temporomandibular ankylosis
Temporomandibular ankylosis 		2 0 2 0.14 0 0
CUI: C4025739
Disease: Acroosteolysis of distal phalanges (feet)
Acroosteolysis of distal phalanges (feet) 		2 0 2 0.14 0 0
CUI: C1837761
Disease: Narrow nasal ridge
Narrow nasal ridge 		11 0 3 0.14 0 0
CUI: C0270254
Disease: Hydrops of placenta
Hydrops of placenta 		3 0 2 0.13 0 0
CUI: C0406586
Disease: Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome 		3 0 2 0.13 0 0
CUI: C1837757
Disease: Progressive clavicular acroosteolysis
Progressive clavicular acroosteolysis 		3 0 2 0.13 0 0
CUI: C1844618
Disease: Aplasia/Hypoplastia of the eccrine sweat glands
Aplasia/Hypoplastia of the eccrine sweat glands 		3 0 2 0.13 0 0
CUI: C1848760
Disease: Increased anterioposterior diameter of thorax
Increased anterioposterior diameter of thorax 		3 0 2 0.13 0 0
CUI: C1848773
Disease: Epidermal hyperkeratosis
Epidermal hyperkeratosis 		3 0 2 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 0.13 0 0
CUI: C4025270
Disease: Arteriosclerosis of small cerebral arteries
Arteriosclerosis of small cerebral arteries 		3 0 2 0.13 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 3 0.13 0 0