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.
Proprotein Convertase 1 3 Deficiency
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2 4 0.710 strong 1.000 4 4 1997 2019
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.700 None 0.857 42 6 1997 2018
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (disorder)
phenotype Finding 1 0.500 strong 0
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.300 None 0.800 15 3 1996 2019
CUI: C0005910
Disease: Body Weight
Body Weight
phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 57 92 0.300 None 1.000 1 2012 2012
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.210 None 1.000 3 1995 2016
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.200 None 1.000 2 2004 2007
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
disease Endocrine System Diseases Disease or Syndrome 279 27 0.200 None 1.000 2 2004 2006
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.200 None 1.000 1 1997 1997
CUI: C0242363
Disease: Islet Cell Tumor
Islet Cell Tumor
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 108 5 0.200 None 1.000 1 1994 1994
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 2001 2001
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 295 6 0.200 None 1.000 1 2002 2002
CUI: C0021368
Disease: Inflammation
Inflammation
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.200 None 1.000 1 2004 2004
Malignant neoplasm of endocrine pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 1 0.200 None 1.000 1 1994 1994
CUI: C0376618
Disease: Endotoxemia
Endotoxemia
phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 401 5 0.200 None 1.000 1 2006 2006
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.120 None 1.000 2 2013 2013
CUI: C0020505
Disease: Hyperphagia
Hyperphagia
phenotype Pathological Conditions, Signs and Symptoms Finding 60 3 0.120 None 1.000 2 2006 2007
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.110 None 1.000 1 2013 2013
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 620 64 0.110 None 1.000 1 2000 2000
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 3 2 2018 2019
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement
phenotype Laboratory Procedure 96 212 0.100 None 1.000 2 2 2013 2015
CUI: C0202098
Disease: Insulin measurement
Insulin measurement
phenotype Laboratory Procedure 15 25 0.100 None 1.000 2 1 2011 2013
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 2 2018 2018
CUI: C0424678
Disease: Lean body mass
Lean body mass
phenotype Clinical Attribute 144 211 0.100 None 1.000 1 1 2019 2019