Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Familial Partial Lipodystrophy, Type 1
9 0 8 0.73 0 0
Loss of subcutaneous adipose tissue in limbs
11 0 8 0.62 0 0
Familial Partial Lipodystrophy, Type 2
16 0 8 0.44 0 0
Loss of gluteal subcutaneous adipose tissue
4 0 4 0.40 0 0
CUI: C4073127
Disease: Decreased adiponectin level
Decreased adiponectin level
4 0 4 0.40 0 0
CUI: C1837802
Disease: Decreased serum leptin
Decreased serum leptin
8 0 5 0.38 0 0
Insulin-resistant diabetes mellitus at puberty
5 0 4 0.36 0 0
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
28 16 9 0.31 2 7.1E-02
CUI: C1835390
Disease: Increased intraabdominal fat
Increased intraabdominal fat
3 0 3 0.30 0 0
Abnormality of skeletal muscle fiber size
8 0 4 0.29 0 0
CUI: C1846013
Disease: Marked muscular hypertrophy
Marked muscular hypertrophy
4 0 3 0.27 0 0
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy
14 11 5 0.26 3 0.14
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus
21 0 6 0.24 0 0
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy
18 0 5 0.22 0 0
CUI: C0426433
Disease: Pinched nasal tip
Pinched nasal tip
2 0 2 0.20 0 0
Decreased adipose tissue around neck
2 0 2 0.20 0 0
CUI: C2931375
Disease: Temporomandibular ankylosis
Temporomandibular ankylosis
2 0 2 0.20 0 0
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
2 0 2 0.20 0 0
Acroosteolysis of distal phalanges (feet)
2 0 2 0.20 0 0
Increased adipose tissue around the neck
2 0 2 0.20 0 0
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue
21 0 5 0.19 0 0
CUI: C2265792
Disease: Skeletal muscle hypertrophy
Skeletal muscle hypertrophy
21 0 5 0.19 0 0
Congenital Generalized Lipodystrophy Type 2
9 0 3 0.19 0 0
CUI: C0270254
Disease: Hydrops of placenta
Hydrops of placenta
3 0 2 0.18 0 0
CUI: C0271693
Disease: Acquired generalized lipodystrophy
Acquired generalized lipodystrophy
3 0 2 0.18 0 0