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: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
disease Disease or Syndrome 741 81 0.010 None 1.000 1 2019 2019
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
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: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2018 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2018 2018
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: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2017 2017
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.010 None 1.000 1 2017 2017
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
disease Digestive System Diseases Disease or Syndrome 502 80 0.100 None 0
CUI: C0019187
Disease: Hepatitis, Alcoholic
Hepatitis, Alcoholic
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 133 1 0.010 None 1.000 1 2015 2015
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: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.010 None 1.000 1 2017 2017
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None < 0.001 1 2008 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2017 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2019 2019
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: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.110 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: C0242339
Disease: Dyslipidemias
Dyslipidemias
group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.010 None 1.000 1 2018 2018