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.
Other disorders of lipoid metabolism
disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.200 None 1.000 1 2007 2007
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality 11 20 0.010 None 1.000 1 1998 1998
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 2002 2002
CUI: C0231311
Disease: Jet Lag Syndrome
Jet Lag Syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 17 0.010 None 1.000 1 2017 2017
CUI: C0029445
Disease: Bone necrosis
Bone necrosis
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 23 5 0.010 None 1.000 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 0.030 None 1.000 3 1 2002 2015
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 33 15 0.010 None 1.000 1 2013 2013
CUI: C0001306
Disease: Acute alcoholic liver disease
Acute alcoholic liver disease
disease Digestive System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 35 0.200 None 1.000 1 2017 2017
CUI: C2748055
Disease: Hypoinsulinaemia (disorder)
Hypoinsulinaemia (disorder)
disease Disease or Syndrome 36 0.010 None 1.000 1 2019 2019
CUI: C0206064
Disease: Microvascular Angina
Microvascular Angina
disease Cardiovascular Diseases Disease or Syndrome 39 10 0.020 None 1.000 2 2002 2004
CUI: C0023794
Disease: Lipoidosis
Lipoidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 0.200 None 1.000 1 2007 2007
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 18 0.010 None 1.000 1 2002 2002
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 47 8 0.020 None 1.000 2 2003 2018
CUI: C0862506
Disease: Borderline ovarian tumour
Borderline ovarian tumour
disease Neoplastic Process 54 0.010 None 1.000 1 2013 2013
CUI: C1257763
Disease: Overnutrition
Overnutrition
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 54 0.010 None 1.000 1 2018 2018
CUI: C3837958
Disease: Diabetes Mellitus, Ketosis-Prone
Diabetes Mellitus, Ketosis-Prone
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 57 4 0.010 None < 0.001 1 1 2009 2009
CUI: C0920563
Disease: Insulin Sensitivity
Insulin Sensitivity
phenotype Nutritional and Metabolic Diseases Pathologic Function 62 0.300 None 1.000 1 2012 2012
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis
disease Infections; Skin and Connective Tissue Diseases Neoplastic Process 64 9 0.010 None 1.000 1 2017 2017
CUI: C4049272
Disease: Tumour budding
Tumour budding
disease Neoplastic Process 71 8 0.010 None 1.000 1 2019 2019
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE
phenotype Finding 80 134 0.100 None 1.000 1 1 2016 2016
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 89 17 0.010 None 1.000 1 2017 2017
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
disease Skin and Connective Tissue Diseases Disease or Syndrome 94 37 0.010 None 1.000 1 2019 2019
CUI: C0015696
Disease: Fatty Liver, Alcoholic
Fatty Liver, Alcoholic
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 94 6 0.010 None 1.000 1 2014 2014
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
group Nutritional and Metabolic Diseases Disease or Syndrome 95 10 0.020 None 1.000 2 2019 2019
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 106 6 0.010 None 1.000 1 2002 2002