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: C1837764
Disease: Loss of subcutaneous adipose tissue in limbs
Loss of subcutaneous adipose tissue in limbs 		11 0 7 0.58 0 0
CUI: C0494360
Disease: Lipodystrophy, not elsewhere classified
Lipodystrophy, not elsewhere classified 		4 0 4 0.50 0 0
CUI: C4025887
Disease: Abnormal oral cavity morphology
Abnormal oral cavity morphology 		12 0 6 0.43 0 0
CUI: C1837795
Disease: Prominent umbilicus
Prominent umbilicus 		3 0 3 0.38 0 0
CUI: C0038449
Disease: Stricture of artery
Stricture of artery 		16 0 6 0.33 0 0
CUI: C2265792
Disease: Skeletal muscle hypertrophy
Skeletal muscle hypertrophy 		21 0 7 0.32 0 0
CUI: C1837792
Disease: Insulin-resistant diabetes mellitus at puberty
Insulin-resistant diabetes mellitus at puberty 		5 0 3 0.30 0 0
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		10 0 4 0.29 0 0
CUI: C0235986
Disease: Growth hormone excess
Growth hormone excess 		20 0 6 0.27 0 0
CUI: C0011859
Disease: Lipoatrophic Diabetes Mellitus
Lipoatrophic Diabetes Mellitus 		11 0 4 0.27 0 0
CUI: C1837799
Disease: Generalized muscular appearance from birth
Generalized muscular appearance from birth 		2 0 2 0.25 0 0
CUI: C4021749
Disease: Cystic angiomatosis of bone
Cystic angiomatosis of bone 		2 0 2 0.25 0 0
CUI: C4476537
Disease: Reduced intrathoracic adipose tissue
Reduced intrathoracic adipose tissue 		2 0 2 0.25 0 0
CUI: C4476602
Disease: Reduced intraabdominal adipose tissue
Reduced intraabdominal adipose tissue 		2 0 2 0.25 0 0
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		18 0 5 0.24 0 0
CUI: C1837802
Disease: Decreased serum leptin
Decreased serum leptin 		8 0 3 0.23 0 0
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval 		25 0 6 0.22 0 0
CUI: C1963217
Disease: Prolonged QTc Interval, CTCAE
Prolonged QTc Interval, CTCAE 		25 0 6 0.22 0 0
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		9 0 3 0.21 0 0
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		9 0 3 0.21 0 0
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue 		21 0 5 0.21 0 0
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		28 0 6 0.20 0 0
CUI: C0404531
Disease: Hypertrophy of labia
Hypertrophy of labia 		4 0 2 0.20 0 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 0 6 0.20 0 0
CUI: C1866241
Disease: Broad foot
Broad foot 		30 0 6 0.19 0 0