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 1.000 1.000 52 20 1993 2018
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 0.770 1.000 19 4 2004 2017
Diabetes Mellitus, Non-Insulin-Dependent
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1671 1522 0.700 0.961 89 10 1996 2017
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
disease Disease or Syndrome 1 2 0.610 1.000 3 2 2005 2018
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 0.600 0.964 39 2 1995 2016
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 0.600 18 8 2003 2017
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 3 0.600 8 3 1993 2006
Hyperinsulinemic hypoglycemia, familial, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 3 1 0.500 11 1 1995 2009
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 206 0.500 1 2008 2008
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 376 33 0.470 strong 1.000 7 1 2000 2011
Maturity onset diabetes mellitus in young
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 82 26 0.430 1.000 3 1 2010 2018
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.420 1.000 3 1 2008 2015
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 0.400 13 13 1995 2015
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 172 10 0.400 1 2008 2008
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 155 0.400 1 2008 2008
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 0.360 1.000 7 1 2004 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 0.330 1.000 3 1 2005 2008
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 110 3 0.310 1.000 2 1 2008 2018
CUI: C4303593
Disease: DEND syndrome
DEND syndrome
disease Disease or Syndrome 1 0.310 1.000 1 2018 2018
Diabetes mellitus autosomal dominant type II (disorder)
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 9 27 0.300 2 2005 2005
CUI: C0920563
Disease: Insulin Sensitivity
Insulin Sensitivity
phenotype Nutritional and Metabolic Diseases Pathologic Function 54 40 0.300 1 1997 1997
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: C4048158
Disease: Convulsions
Convulsions
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 117 0.300 1 2008 2008
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 122 2 0.300 1 2008 2008