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, PERMANENT NEONATAL
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 16 72 0.800 1.000 21 19 1993 2015
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 4 0.800 4 4 2000 2015
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 27 48 0.700 0.973 97 44 1995 2017
Hyperinsulinemic hypoglycemia, familial, 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 3 90 0.600 80 90 1976 2017
CUI: C0271714
Disease: Hypoglycemia, leucine-induced
Hypoglycemia, leucine-induced
disease Nutritional and Metabolic Diseases Disease or Syndrome 1 1 0.600 1 1 2004 2004
Developmental Delay, Epilepsy, and Neonatal Diabetes
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 40 0.560 1.000 9 15 2006 2013
Diabetes Mellitus, Transient Neonatal, 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 12 11 0.550 1.000 6 1 2000 2015
Diabetes Mellitus, Non-Insulin-Dependent
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1671 1522 0.500 0.906 56 5 1996 2018
CUI: C0027773
Disease: Nesidioblastosis
Nesidioblastosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 12 51 0.500 22 38 1996 2016
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease Disease or Syndrome 38 34 0.400 0.973 40 16 2000 2017
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 376 33 0.400 strong 1.000 28 1 1997 2017
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 231 13 0.400 1.000 12 4 1998 2015
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
disease Endocrine System Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 44 0.400 4 15 2006 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 0
Diabetes Mellitus, Insulin-Dependent
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 955 775 0.330 1.000 4 2004 2009
Maturity onset diabetes mellitus in young
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 82 26 0.310 1.000 1 2017 2017
Hyperinsulinemic hypoglycemia, familial, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 3 1 0.300 2 1999 2005
CUI: C0342302
Disease: Brittle diabetes
Brittle diabetes
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 43 0.300 1 2008 2008
CUI: C3837958
Disease: Diabetes Mellitus, Ketosis-Prone
Diabetes Mellitus, Ketosis-Prone
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 45 1 0.300 1 2008 2008
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.300 1 2012 2012
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1072 226 0.300 1 2012 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.300 1 2012 2012
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 110 3 0.300 1 2008 2008
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia
phenotype Disease or Syndrome 42 0.300 limited 0
Autosomal dominant hyperinsulinism due to SUR1 deficiency
disease Disease or Syndrome 1 0.300 0