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: C0017979
Disease: Glycosuria
Glycosuria
phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 53 7 0.100 None 0
CUI: C2748055
Disease: Hypoinsulinaemia (disorder)
Hypoinsulinaemia (disorder)
disease Disease or Syndrome 36 0.100 None 0
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 114 7 0.100 None 0
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.100 None 0
CUI: C0497406
Disease: Overweight
Overweight
phenotype Pathological Conditions, Signs and Symptoms Finding 27 3 0.100 None 0
Transient neonatal diabetes mellitus
disease Disease or Syndrome 23 0.100 None 0
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 100 2 0.100 None 0
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 0.100 None 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.100 None 0
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease Digestive System Diseases Disease or Syndrome 82 26 0.100 None 0
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 55 13 0.100 None 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.100 None 0
CUI: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance
phenotype Finding 15 0.100 None 0
CUI: C1848395
Disease: Large for gestational age
Large for gestational age
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 43 10 0.100 None 0
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 52 6 0.100 None 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level
phenotype Finding 14 0.100 None 0
CUI: C4073162
Disease: Elevated hemoglobin A1c
Elevated hemoglobin A1c
phenotype Finding 14 0.100 None 0
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 62 27 0.100 None 0
CUI: C3887499
Disease: Renal cyst
Renal cyst
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 170 17 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE
phenotype Finding 108 0.100 None 0
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 205 16 0.010 None < 0.001 1 2007 2007
Maturity onset diabetes mellitus in young
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.410 None < 0.001 1 2 2015 2015
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.160 None 1.000 6 2011 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2016 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2016 2018