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: C4023759
Disease: Flat nasal alae
Flat nasal alae 		8 0 7 0.33 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 7 0.28 0 0
CUI: C0014390
Disease: Entropion
Entropion 		18 0 7 0.23 0 0
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		18 0 7 0.23 0 0
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		18 0 7 0.23 0 0
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		24 0 8 0.22 0 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		25 0 8 0.22 0 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		20 0 7 0.21 0 0
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin 		56 0 13 0.21 0 0
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		43 0 9 0.17 0 0
CUI: C1328440
Disease: Abnormality of amino acid metabolism
Abnormality of amino acid metabolism 		8 0 4 0.17 0 0
CUI: C4021971
Disease: Peripheral arteriovenous fistula
Peripheral arteriovenous fistula 		8 0 4 0.17 0 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		9 0 4 0.16 0 0
CUI: C4021977
Disease: Visceral angiomatosis
Visceral angiomatosis 		17 0 5 0.16 0 0
CUI: C0241790
Disease: Congenital pulmonary arteriovenous malformation
Congenital pulmonary arteriovenous malformation 		4 0 3 0.14 0 0
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		20 0 5 0.14 0 0
CUI: C1857690
Disease: Pulmonary arteriovenous malformation
Pulmonary arteriovenous malformation 		4 0 3 0.14 0 0
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		46 0 8 0.14 0 0
CUI: C0155675
Disease: Pulmonary Arteriovenous Fistulas
Pulmonary Arteriovenous Fistulas 		5 0 3 0.14 0 0
CUI: C0235971
Disease: Elevated alpha-fetoprotein
Elevated alpha-fetoprotein 		14 0 4 0.13 0 0
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		48 0 8 0.13 0 0
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		14 0 4 0.13 0 0
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		7 0 3 0.12 0 0
CUI: C0016689
Disease: Freckles
Freckles 		45 0 7 0.12 0 0
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		45 0 7 0.12 0 0