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: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus 		30 0 30 1.00 0 0
CUI: C0426870
Disease: Large hand
Large hand 		35 0 14 0.27 0 0
CUI: C0235986
Disease: Growth hormone excess
Growth hormone excess 		20 0 8 0.19 0 0
CUI: C4023051
Disease: Abnormality of skeletal muscle fiber size
Abnormality of skeletal muscle fiber size 		8 0 6 0.19 0 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		64 0 14 0.17 0 0
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		24 0 8 0.17 0 0
CUI: C1837764
Disease: Loss of subcutaneous adipose tissue in limbs
Loss of subcutaneous adipose tissue in limbs 		11 0 6 0.17 0 0
CUI: C4025887
Disease: Abnormal oral cavity morphology
Abnormal oral cavity morphology 		12 0 6 0.17 0 0
CUI: C0038449
Disease: Stricture of artery
Stricture of artery 		16 0 6 0.15 0 0
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		41 0 9 0.15 0 0
CUI: C0494360
Disease: Lipodystrophy, not elsewhere classified
Lipodystrophy, not elsewhere classified 		4 0 4 0.13 0 0
CUI: C2265792
Disease: Skeletal muscle hypertrophy
Skeletal muscle hypertrophy 		21 0 6 0.13 0 0
CUI: C3277753
Disease: Deep-set nails
Deep-set nails 		5 0 4 0.13 0 0
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval 		25 0 6 0.12 0 0
CUI: C1963217
Disease: Prolonged QTc Interval, CTCAE
Prolonged QTc Interval, CTCAE 		25 0 6 0.12 0 0
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		35 0 7 0.12 0 0
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		8 0 4 0.12 0 0
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		37 0 7 0.12 0 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 0 6 0.12 0 0
CUI: C0576225
Disease: Long foot
Long foot 		19 0 5 0.11 0 0
CUI: C0241240
Disease: Tall stature
Tall stature 		79 0 11 0.11 0 0
CUI: C0423823
Disease: Thin nails
Thin nails 		10 0 4 0.11 0 0
CUI: C0011859
Disease: Lipoatrophic Diabetes Mellitus
Lipoatrophic Diabetes Mellitus 		11 0 4 0.11 0 0
CUI: C0221766
Disease: Diastasis recti
Diastasis recti 		22 0 5 0.11 0 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		64 0 9 0.11 0 0