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: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		18 0 18 1.00 0 0
CUI: C4023759
Disease: Flat nasal alae
Flat nasal alae 		8 0 7 0.37 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 7 0.30 0 0
CUI: C0014390
Disease: Entropion
Entropion 		18 0 8 0.29 0 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		20 0 7 0.23 0 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		20 0 7 0.23 0 0
CUI: C3873482
Disease: Chronic ulcerative stomatitis
Chronic ulcerative stomatitis 		5 0 4 0.21 0 0
CUI: C4049579
Disease: Keratin pearl
Keratin pearl 		5 0 4 0.21 0 0
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		24 0 7 0.20 0 0
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		6 0 4 0.20 0 0
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		6 0 4 0.20 0 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		25 0 7 0.19 0 0
CUI: C1266063
Disease: Malignant eccrine spiradenoma
Malignant eccrine spiradenoma 		7 0 4 0.19 0 0
CUI: C1337014
Disease: Grade I Chondrosarcoma
Grade I Chondrosarcoma 		7 0 4 0.19 0 0
CUI: C1412016
Disease: Sweat gland carcinoma
Sweat gland carcinoma 		7 0 4 0.19 0 0
CUI: C0206713
Disease: Papilloma, Intraductal
Papilloma, Intraductal 		8 0 4 0.18 0 0
CUI: C0334318
Disease: Lipid-rich carcinoma
Lipid-rich carcinoma 		8 0 4 0.18 0 0
CUI: C0395886
Disease: Cholesteatoma, Congenital
Cholesteatoma, Congenital 		8 0 4 0.18 0 0
CUI: C1328440
Disease: Abnormality of amino acid metabolism
Abnormality of amino acid metabolism 		8 0 4 0.18 0 0
CUI: C1838703
Disease: Bladder Exstrophy and Epispadias Complex
Bladder Exstrophy and Epispadias Complex 		8 0 4 0.18 0 0
CUI: C1785148
Disease: RAPP-HODGKIN SYNDROME
RAPP-HODGKIN SYNDROME 		9 0 4 0.17 0 0
CUI: C1838652
Disease: SPLIT-HAND/FOOT MALFORMATION 3
SPLIT-HAND/FOOT MALFORMATION 3 		9 0 4 0.17 0 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		9 0 4 0.17 0 0
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		10 0 4 0.17 0 0
CUI: C1333878
Disease: B-cell lymphoma unclassifiable with features intermediate between classical Hodgkin lymphoma and diffuse large B-cell lymphoma
B-cell lymphoma unclassifiable with features intermediate between classical Hodgkin lymphoma and diffuse large B-cell lymphoma 		11 0 4 0.16 0 0