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: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin 		56 0 20 0.21 0 0
CUI: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis 		17 0 13 0.21 0 0
CUI: C0005741
Disease: Blepharitis
Blepharitis 		55 0 19 0.20 0 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		30 0 14 0.19 0 0
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle 		20 0 12 0.18 0 0
CUI: C0239804
Disease: White hair
White hair 		18 0 11 0.17 0 0
CUI: C4020958
Disease: Rough bone trabeculation
Rough bone trabeculation 		19 0 11 0.16 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		29 0 12 0.16 0 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		29 0 12 0.16 0 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		23 0 11 0.15 0 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		23 0 11 0.15 0 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		91 0 20 0.15 0 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		80 0 18 0.15 0 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		74 0 17 0.15 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 17 0.15 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		39 0 12 0.14 0 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		31 0 11 0.14 0 0
CUI: C0266039
Disease: Taurodontism
Taurodontism 		40 0 12 0.14 0 0
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		16 0 9 0.14 0 0
CUI: C0263498
Disease: Premature canities
Premature canities 		33 0 11 0.14 0 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 21 0.13 0 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		20 0 9 0.13 0 0
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis 		41 0 11 0.12 0 0
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		41 0 11 0.12 0 0
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		41 0 11 0.12 0 0