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: 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: C4274080
Disease: Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinism due to SUR1 deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 None 1.000 2 2000 2015
CUI: C0271703
Disease: Factitious hypoglycemia
Factitious hypoglycemia 		disease Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
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: C0232180
Disease: Cardiac shunt
Cardiac shunt 		phenotype Finding 1 2 0.100 None 0 2
CUI: C1864623
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2 15 0.200 None 1.000 1 2000 2000
CUI: C2931207
Disease: Usher syndrome, type 1C
Usher syndrome, type 1C 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2000 2000
CUI: C4022484
Disease: Clinodactyly of the 4th finger
Clinodactyly of the 4th finger 		disease Congenital Abnormality 2 0.100 None 0
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: 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: C4303593
Disease: DEND syndrome
DEND syndrome 		disease Nervous System Diseases Disease or Syndrome 3 8 0.040 None 1.000 4 1 2006 2018
CUI: C1847555
Disease: Hyperinsulinemic hypoglycemia, familial, 6
Hyperinsulinemic hypoglycemia, familial, 6 		disease Nutritional and Metabolic Diseases Disease or Syndrome 3 11 0.010 None 1.000 1 2000 2000
CUI: C1833102
Disease: DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 9 0.100 None 0 1
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
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 0.360 None 1.000 8 1 2006 2018
CUI: C1740821
Disease: Slowly progressive insulin dependent diabetes
Slowly progressive insulin dependent diabetes 		disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C3896643
Disease: New Onset Diabetes After Transplant
New Onset Diabetes After Transplant 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2018 2018
CUI: C1969875
Disease: Beta-cell dysfunction
Beta-cell dysfunction 		phenotype Finding 6 0.100 None 0
CUI: C4025043
Disease: Abnormality of the pancreatic islet cells
Abnormality of the pancreatic islet cells 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C1856904
Disease: Reduced pancreatic beta cells
Reduced pancreatic beta cells 		phenotype Finding 7 0.100 None 0
CUI: C4024168
Disease: Thickened ears
Thickened ears 		disease Anatomical Abnormality 7 1 0.100 None 0
CUI: C4321446
Disease: K ATP Permanent Neonatal Diabetes
K ATP Permanent Neonatal Diabetes 		disease Disease or Syndrome 8 2 0.030 None 1.000 3 2007 2009
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 8 139 0.200 None 1.000 1 2000 2000
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 10 8 0.010 None < 0.001 1 2014 2014
CUI: C1969879
Disease: Limb joint contracture
Limb joint contracture 		phenotype Finding 10 1 0.100 None 0
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
Neonatal insulin-dependent diabetes mellitus 		phenotype Finding 10 6 0.100 None 0