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.
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: C0852188
Disease: Necrosis NEC
Necrosis NEC
disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (disorder)
phenotype Finding 1 0.500 strong 0
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
Non-Functioning Corticotroph Adenoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 3 0.010 None 1.000 1 2007 2007
CUI: C4024583
Disease: Increased adipose tissue
Increased adipose tissue
phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
CUI: C0239803
Disease: Red hair
Red hair
phenotype Finding 9 1 0.100 None 0
CUI: C4054476
Disease: Monogenic Obesity
Monogenic Obesity
phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Sign or Symptom 11 1 0.010 None 1.000 1 2008 2008
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity
phenotype Finding 11 4 0.100 None 0
CUI: C0743178
Disease: Intractable diarrhea
Intractable diarrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 3 0.010 None 1.000 1 2017 2017
CUI: C0202098
Disease: Insulin measurement
Insulin measurement
phenotype Laboratory Procedure 15 25 0.100 None 1.000 2 1 2011 2013
CUI: C0267456
Disease: Villous atrophy of intestine
Villous atrophy of intestine
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0554101
Disease: Villous atrophy
Villous atrophy
phenotype Finding 19 0.100 None 0
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures
disease Nutritional and Metabolic Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0948387
Disease: Secondary Adrenal Insufficiency
Secondary Adrenal Insufficiency
disease Endocrine System Diseases Disease or Syndrome 20 1 0.100 None 0
CUI: C0271710
Disease: Reactive hypoglycemia
Reactive hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 23 0.100 None 0
Decreased circulating cortisol level
phenotype Immune System Diseases; Endocrine System Diseases Finding 23 2 0.100 None 0
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency
disease Disease or Syndrome 26 0.100 None 0
CUI: C4237343
Disease: Overweight or obesity
Overweight or obesity
phenotype Disease or Syndrome 35 17 0.010 None 1.000 1 1 2014 2014
Congenital hypoplasia of adrenal gland
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 45 13 0.010 None 1.000 1 2007 2007
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 47 2 0.100 None 0
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism
disease Endocrine System Diseases Disease or Syndrome 50 1 0.010 None 1.000 1 2013 2013
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease Endocrine System Diseases Disease or Syndrome 57 70 0.030 None 1.000 3 2000 2007
CUI: C0011848
Disease: Diabetes Insipidus
Diabetes Insipidus
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 57 3 0.020 None 1.000 2 2013 2014
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