GLUD1, glutamate dehydrogenase 1, 2746

N. diseases: 86; N. variants: 11
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: C1847555
Disease: Hyperinsulinemic hypoglycemia, familial, 6
Hyperinsulinemic hypoglycemia, familial, 6 		disease Nutritional and Metabolic Diseases Disease or Syndrome 3 11 0.770 None 1.000 18 11 1998 2018
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 8 0.400 None 1.000 12 1 1998 2019
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 620 64 0.400 None 1.000 11 2 1998 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.310 strong 1.000 2 2 2001 2009
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.310 None 1.000 1 2009 2009
CUI: C1257963
Disease: Endogenous Hyperinsulinism
Endogenous Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 0.300 None 1.000 1 1998 1998
CUI: C1257964
Disease: Exogenous Hyperinsulinism
Exogenous Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 0.300 None 1.000 1 1998 1998
CUI: C1257965
Disease: Compensatory Hyperinsulinemia
Compensatory Hyperinsulinemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 30 2 0.300 None 1.000 1 1998 1998
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 0.200 None 0.923 13 1 1999 2019
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 100 3 0.200 None 1.000 1 1988 1988
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.200 None 1.000 1 1995 1995
CUI: C0270824
Disease: Visual seizure
Visual seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.200 None 1.000 1 2001 2001
CUI: C0015652
Disease: Fascioliasis
Fascioliasis 		disease Digestive System Diseases; Infections Disease or Syndrome 24 0.200 None 1.000 1 1999 1999
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		disease Nervous System Diseases Disease or Syndrome 354 33 0.200 None 1.000 1 2008 2008
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 358 5 0.200 None 1.000 1 1995 1995
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 89 17 0.200 None 1.000 1 2000 2000
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 52 6 0.170 None 0.857 7 2011 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C4023476
Disease: EEG with generalized epileptiform discharges
EEG with generalized epileptiform discharges 		phenotype Finding 6 4 0.100 None 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 251 94 0.100 None 0
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures 		disease Nutritional and Metabolic Diseases Disease or Syndrome 19 0.100 None 0
CUI: C4022915
Disease: Increased urine alpha-ketoglutarate concentration
Increased urine alpha-ketoglutarate concentration 		phenotype Finding 3 0.100 None 0
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 19 0.100 None 0
CUI: C4021552
Disease: Asymptomatic hyperammonemia
Asymptomatic hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 1 0.100 None 0