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: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis 		17 0 11 0.31 0 0
CUI: C0239804
Disease: White hair
White hair 		18 0 11 0.30 0 0
CUI: C4020958
Disease: Rough bone trabeculation
Rough bone trabeculation 		19 0 11 0.29 0 0
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle 		20 0 11 0.28 0 0
CUI: C4025896
Disease: Abnormality of the penis
Abnormality of the penis 		8 0 8 0.27 0 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		23 0 11 0.26 0 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		23 0 11 0.26 0 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		29 0 12 0.26 0 0
CUI: C4021849
Disease: Conjunctival hamartoma
Conjunctival hamartoma 		10 0 8 0.25 0 0
CUI: C4022020
Disease: Mucosal telangiectasiae
Mucosal telangiectasiae 		16 0 9 0.24 0 0
CUI: C0263498
Disease: Premature canities
Premature canities 		33 0 12 0.24 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		29 0 11 0.23 0 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		31 0 11 0.22 0 0
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		16 0 8 0.21 0 0
CUI: C1969913
Disease: Generalized hyperkeratosis
Generalized hyperkeratosis 		16 0 8 0.21 0 0
CUI: C4024641
Disease: Enlarged polycystic ovaries
Enlarged polycystic ovaries 		18 0 8 0.20 0 0
CUI: C0265319
Disease: Fibrous skin tumor of tuberous sclerosis
Fibrous skin tumor of tuberous sclerosis 		20 0 8 0.19 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		39 0 11 0.19 0 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		59 0 14 0.19 0 0
CUI: C0266039
Disease: Taurodontism
Taurodontism 		40 0 11 0.19 0 0
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis 		41 0 11 0.18 0 0
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		41 0 11 0.18 0 0
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		41 0 11 0.18 0 0
CUI: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE 		41 0 11 0.18 0 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		74 0 16 0.18 0 0