Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5
disease Disease or Syndrome 1 1 0.600 limited 1.000 1 1 2009 2009
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 28 16 0.310 None 1.000 1 2011 2011
CUI: C0162820
Disease: Dermatitis, Allergic Contact
Dermatitis, Allergic Contact
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 151 1 0.300 None 1.000 1 2007 2007
Familial Partial Lipodystrophy, Type 1
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 9 0.300 None 0
Familial Partial Lipodystrophy, Type 2
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 16 23 0.300 None 0
Familial Partial Lipodystrophy, Type 3
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 10 14 0.300 None 0
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.170 None 1.000 7 2013 2020
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.160 None 1.000 6 2013 2020
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.110 None 1.000 1 2017 2017
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 21 2 0.110 None 1.000 1 1 2009 2009
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 226 28 0.110 None 1.000 1 2011 2011
CUI: C1846013
Disease: Marked muscular hypertrophy
Marked muscular hypertrophy
phenotype Finding 4 0.100 None 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
phenotype Finding 46 5 0.100 None 0
CUI: C1837802
Disease: Decreased serum leptin
Decreased serum leptin
phenotype Finding 8 0.100 None 0
Loss of subcutaneous adipose tissue in limbs
phenotype Finding 11 0.100 None 0
CUI: C4073127
Disease: Decreased adiponectin level
Decreased adiponectin level
phenotype Finding 4 0.100 None 0
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.100 None 0
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
disease Digestive System Diseases Disease or Syndrome 502 80 0.100 None 0
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 37 1 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
Loss of gluteal subcutaneous adipose tissue
phenotype Finding 4 0.100 None 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
disease Skin and Connective Tissue Diseases Disease or Syndrome 64 11 0.100 None 0
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.090 None 1.000 9 2009 2019
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.030 None 1.000 3 2010 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 0.500 2 2008 2019