GLUD1, glutamate dehydrogenase 1, 2746

N. diseases: 61; N. variants: 4
Source: BEFREE ×
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 1 0.770 None 1.000 7 1 1998 2018
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 492 59 0.400 None 1.000 10 2 1998 2015
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 67 5 0.400 None 1.000 10 1 1998 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1124 250 0.310 strong 1.000 1 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 599 19 0.310 None 1.000 1 2009 2009
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 48 17 0.200 None 0.923 12 1 1999 2019
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 38 5 0.170 None 0.857 7 2011 2019
CUI: C0017536
Disease: Giardiasis
Giardiasis 		disease Digestive System Diseases; Infections Disease or Syndrome 48 0.080 None 1.000 8 2009 2018
CUI: C1411966
Disease: Clostridium; difficile (disorder)
Clostridium; difficile (disorder) 		disease Disease or Syndrome 106 0.040 None 1.000 4 2015 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10153 1571 0.040 None 1.000 4 2014 2017
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 293 27 0.040 None 1.000 4 1 2011 2019
CUI: C0275524
Disease: Coinfection
Coinfection 		phenotype Infections Disease or Syndrome 252 11 0.030 None 1.000 3 2008 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2015 2019
CUI: C0268576
Disease: Hyperleucinemia
Hyperleucinemia 		phenotype Disease or Syndrome 2 0.030 None 1.000 3 2009 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8577 1441 0.030 None 1.000 3 2015 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6500 2145 0.020 None 1.000 2 2018 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.020 None 1.000 2 2016 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4073 1000 0.020 None 1.000 2 2018 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6481 2154 0.020 None 1.000 2 2018 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5011 1186 0.020 None 1.000 2 2016 2017
CUI: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.020 None 1.000 2 2004 2005
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2217 1332 0.020 None 1.000 2 2018 2019
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 49 1 0.020 None 1.000 2 2001 2004
CUI: C0010709
Disease: Cyst
Cyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome 212 6 0.020 None 1.000 2 2005 2010
CUI: C4551976
Disease: HYPOTRICHOSIS 1
HYPOTRICHOSIS 1 		disease Disease or Syndrome 4 0.020 None 1.000 2 2001 2004