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 8 0.33 0 0
CUI: C4023051
Disease: Abnormality of skeletal muscle fiber size
Abnormality of skeletal muscle fiber size 		8 0 7 0.32 0 0
CUI: C4025887
Disease: Abnormal oral cavity morphology
Abnormal oral cavity morphology 		12 0 6 0.22 0 0
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue 		21 0 7 0.20 0 0
CUI: C0038449
Disease: Stricture of artery
Stricture of artery 		16 0 6 0.19 0 0
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		10 0 5 0.19 0 0
CUI: C0494360
Disease: Lipodystrophy, not elsewhere classified
Lipodystrophy, not elsewhere classified 		4 0 4 0.19 0 0
CUI: C1837792
Disease: Insulin-resistant diabetes mellitus at puberty
Insulin-resistant diabetes mellitus at puberty 		5 0 4 0.18 0 0
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		18 0 6 0.18 0 0
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval 		25 0 7 0.18 0 0
CUI: C1963217
Disease: Prolonged QTc Interval, CTCAE
Prolonged QTc Interval, CTCAE 		25 0 7 0.18 0 0
CUI: C0235986
Disease: Growth hormone excess
Growth hormone excess 		20 0 6 0.17 0 0
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		49 0 10 0.17 0 0
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		28 0 7 0.17 0 0
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		37 0 8 0.16 0 0
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		9 0 4 0.15 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 10 0.15 0 0
CUI: C0011859
Disease: Lipoatrophic Diabetes Mellitus
Lipoatrophic Diabetes Mellitus 		11 0 4 0.14 0 0
CUI: C0426870
Disease: Large hand
Large hand 		35 0 7 0.14 0 0
CUI: C1837795
Disease: Prominent umbilicus
Prominent umbilicus 		3 0 3 0.14 0 0
CUI: C1853702
Disease: Muscle mounding
Muscle mounding 		3 0 3 0.14 0 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 0 6 0.14 0 0
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		37 0 7 0.14 0 0
CUI: C1866241
Disease: Broad foot
Broad foot 		30 0 6 0.13 0 0
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus 		30 0 6 0.13 0 0