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: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		50 0 17 0.15 0 0
CUI: C0014390
Disease: Entropion
Entropion 		18 0 11 0.13 0 0
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin 		56 0 15 0.13 0 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		133 0 23 0.12 0 0
CUI: C0241181
Disease: Fragile skin
Fragile skin 		26 0 11 0.12 0 0
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		77 0 15 0.11 0 0
CUI: C0542514
Disease: Blue sclera
Blue sclera 		70 13 14 0.11 1 6.2E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 15 28 0.10 1 5.6E-02
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		10 0 8 0.10 0 0
CUI: C1844592
Disease: Soft skin
Soft skin 		22 0 9 1.0E-01 0 0
CUI: C0016689
Disease: Freckles
Freckles 		45 0 11 9.9E-02 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 23 9.8E-02 1 6.7E-02
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		25 0 9 9.7E-02 0 0
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		87 0 14 9.3E-02 0 0
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		18 0 8 9.2E-02 0 0
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		18 0 8 9.2E-02 0 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		68 8 12 9.0E-02 1 9.1E-02
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		20 0 8 9.0E-02 0 0
CUI: C4023759
Disease: Flat nasal alae
Flat nasal alae 		8 0 7 9.0E-02 0 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		69 0 12 9.0E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 11 8.9E-02 0 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		59 0 11 8.8E-02 0 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 0 15 8.6E-02 0 0
CUI: C0013592
Disease: Ectropion
Ectropion 		50 0 10 8.5E-02 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 7 8.5E-02 0 0