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.
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.900 strong 0.943 106 14 1996 2019
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 42 33 0.500 None 0.988 80 11 2004 2019
DIABETES MELLITUS, PERMANENT NEONATAL
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 20 108 1.000 strong 0.984 61 34 2001 2018
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.100 None 0.981 54 12 2003 2019
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 0.700 None 1.000 47 4 2001 2019
Hyperinsulinemic hypoglycemia, familial, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 3 50 0.700 strong 1.000 23 28 1995 2016
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2 15 0.700 strong 1.000 18 15 2001 2016
Developmental Delay, Epilepsy, and Neonatal Diabetes
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 4 5 0.570 None 1.000 11 4 2006 2018
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 52 6 0.200 None 1.000 10 1 2011 2016
CUI: C4303593
Disease: DEND syndrome
DEND syndrome
disease Nervous System Diseases Disease or Syndrome 3 8 0.490 strong 1.000 10 7 2007 2017
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.380 None 0.889 9 1 2004 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.090 None 0.889 9 6 2004 2015
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.150 None 1.000 9 4 2002 2016
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 620 64 0.190 None 1.000 9 1 2000 2017
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.190 None 0.889 9 2 2003 2019
Maturity onset diabetes mellitus in young
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.660 strong 1.000 7 1 2009 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.170 None 1.000 7 7 2005 2016
Diabetes Mellitus, Transient Neonatal, 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 12 11 0.330 None 1.000 6 1 2005 2012
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
disease Disease or Syndrome 1 5 0.610 None 1.000 5 5 2011 2017
CUI: C4321446
Disease: K ATP Permanent Neonatal Diabetes
K ATP Permanent Neonatal Diabetes
disease Disease or Syndrome 8 2 0.050 None 1.000 5 1 2005 2010
CUI: C0011880
Disease: Diabetic Ketoacidosis
Diabetic Ketoacidosis
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 63 3 0.040 None 1.000 4 2005 2018
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 205 16 0.230 None 1.000 4 2 2007 2018
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 30 19 0.340 strong 1.000 4 2009 2018
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 0.030 None 0.333 3 1 2007 2013
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
disease Cardiovascular Diseases Disease or Syndrome 445 293 0.030 None 1.000 3 2 2011 2019