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.
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 3 147 0.700 None 1.000 92 147 1995 2018
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 20 108 0.800 strong 1.000 23 26 2006 2018
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 3 50 0.400 None 1.000 47 22 1976 2016
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 0.700 None 1.000 48 18 2000 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 0.500 None 0.983 117 14 1995 2020
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.700 None 0.900 60 11 1995 2018
CUI: C1835887
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 1 10 0.900 None 1.000 2 10 2000 2006
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.200 None 0.957 47 8 1997 2020
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.100 None 0.950 40 8 1997 2020
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.400 None 1.000 12 6 1998 2019
CUI: C0271714
Disease: Hypoglycemia, leucine-induced
Hypoglycemia, leucine-induced 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 6 0.700 None 1.000 1 6 2004 2004
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.180 None 1.000 8 4 1998 2019
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 620 64 0.100 None 1.000 37 2 1997 2018
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		disease Disease or Syndrome 88 14 0.040 None 0.500 4 2 1997 2013
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 206 2356 0.100 None 1.000 1 2 2012 2012
CUI: C0018099
Disease: Gout
Gout 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 205 2354 0.100 None 1.000 1 2 2012 2012
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.110 None 1.000 1 2 2011 2011
CUI: C0232180
Disease: Cardiac shunt
Cardiac shunt 		phenotype Finding 1 2 0.100 None 0 2
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 0 2
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0 2
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0 2
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 2
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype Finding 50 58 0.100 None 0 2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 0 2
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.100 None 0 2