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: C4022020
Disease: Mucosal telangiectasiae
Mucosal telangiectasiae 		16 0 10 0.24 0 0
CUI: C4025896
Disease: Abnormality of the penis
Abnormality of the penis 		8 0 8 0.23 0 0
CUI: C4021849
Disease: Conjunctival hamartoma
Conjunctival hamartoma 		10 0 8 0.22 0 0
CUI: C0265319
Disease: Fibrous skin tumor of tuberous sclerosis
Fibrous skin tumor of tuberous sclerosis 		20 0 9 0.20 0 0
CUI: C1969913
Disease: Generalized hyperkeratosis
Generalized hyperkeratosis 		16 0 8 0.19 0 0
CUI: C4024641
Disease: Enlarged polycystic ovaries
Enlarged polycystic ovaries 		18 0 8 0.18 0 0
CUI: C4023051
Disease: Abnormality of skeletal muscle fiber size
Abnormality of skeletal muscle fiber size 		8 0 6 0.16 0 0
CUI: C3272802
Disease: Hamartomatous polyposis
Hamartomatous polyposis 		23 0 8 0.16 0 0
CUI: C0332573
Disease: Macule
Macule 		31 0 9 0.16 0 0
CUI: C1837764
Disease: Loss of subcutaneous adipose tissue in limbs
Loss of subcutaneous adipose tissue in limbs 		11 0 6 0.15 0 0
CUI: C4025887
Disease: Abnormal oral cavity morphology
Abnormal oral cavity morphology 		12 0 6 0.15 0 0
CUI: C0018920
Disease: Hemangioma, Cavernous
Hemangioma, Cavernous 		36 0 9 0.15 0 0
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		36 0 9 0.15 0 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		30 0 8 0.14 0 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		80 0 14 0.14 0 0
CUI: C0038449
Disease: Stricture of artery
Stricture of artery 		16 0 6 0.13 0 0
CUI: C0426870
Disease: Large hand
Large hand 		35 0 8 0.13 0 0
CUI: C0235986
Disease: Growth hormone excess
Growth hormone excess 		20 0 6 0.12 0 0
CUI: C1866241
Disease: Broad foot
Broad foot 		30 0 7 0.12 0 0
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus 		30 0 7 0.12 0 0
CUI: C2265792
Disease: Skeletal muscle hypertrophy
Skeletal muscle hypertrophy 		21 0 6 0.12 0 0
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		41 0 8 0.12 0 0
CUI: C0494360
Disease: Lipodystrophy, not elsewhere classified
Lipodystrophy, not elsewhere classified 		4 0 4 0.11 0 0
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval 		25 0 6 0.11 0 0
CUI: C1963217
Disease: Prolonged QTc Interval, CTCAE
Prolonged QTc Interval, CTCAE 		25 0 6 0.11 0 0