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.
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 9 0.300 None 0
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 16 23 0.300 None 0
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
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: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		disease Skin and Connective Tissue Diseases Disease or Syndrome 64 11 0.100 None 0
CUI: C1837802
Disease: Decreased serum leptin
Decreased serum leptin 		phenotype Finding 8 0.100 None 0
CUI: C1837764
Disease: Loss of subcutaneous adipose tissue in limbs
Loss of subcutaneous adipose tissue in limbs 		phenotype Finding 11 0.100 None 0
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 37 1 0.100 None 0
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		disease Digestive System Diseases Disease or Syndrome 502 80 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: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		phenotype Finding 46 5 0.100 None 0
CUI: C1846013
Disease: Marked muscular hypertrophy
Marked muscular hypertrophy 		phenotype Finding 4 0.100 None 0
CUI: C4073127
Disease: Decreased adiponectin level
Decreased adiponectin level 		phenotype Finding 4 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
CUI: C4024606
Disease: Loss of gluteal subcutaneous adipose tissue
Loss of gluteal subcutaneous adipose tissue 		phenotype Finding 4 0.100 None 0
CUI: C3808940
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5
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
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: C2936179
Disease: Obesity, Visceral
Obesity, Visceral 		phenotype Nutritional and Metabolic Diseases Sign or Symptom 55 3 0.010 None 1.000 1 2019 2019
CUI: C2718067
Disease: Alcoholic Steatohepatitis
Alcoholic Steatohepatitis 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 30 0.010 None 1.000 1 2015 2015
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 14 11 0.010 None 1.000 1 2009 2009
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.010 None 1.000 1 2019 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2 2018 2018