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: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.110 None 1.000 1 2017 2017
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: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 37 1 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: C1837802
Disease: Decreased serum leptin
Decreased serum leptin 		phenotype Finding 8 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: C4024606
Disease: Loss of gluteal subcutaneous adipose tissue
Loss of gluteal subcutaneous adipose tissue 		phenotype Finding 4 0.100 None 0
CUI: C4073127
Disease: Decreased adiponectin level
Decreased adiponectin level 		phenotype Finding 4 0.100 None 0
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
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2017 2017
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2010 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2017 2017
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.010 None 1.000 1 2018 2018