AKT2, AKT serine/threonine kinase 2, 208

N. diseases: 264; N. variants: 18
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: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		disease Disease or Syndrome 1 1 0.700 None 1.000 5 1 2004 2017
CUI: C4073161
Disease: Abnormal circulating insulin level
Abnormal circulating insulin level 		phenotype Finding 1 0.100 None 0
CUI: C0549123
Disease: Large tonsils (finding)
Large tonsils (finding) 		phenotype Pathological Conditions, Signs and Symptoms Finding 3 0.100 None 0
CUI: C1835390
Disease: Increased intraabdominal fat
Increased intraabdominal fat 		phenotype Finding 3 0.100 None 0
CUI: C1856285
Disease: Increased hepatic glycogen content
Increased hepatic glycogen content 		phenotype Finding 4 0.100 None 0
CUI: C4073127
Disease: Decreased adiponectin level
Decreased adiponectin level 		phenotype Finding 4 0.100 None 0
CUI: C1866260
Disease: Peroxisome Biogenesis Disorder, Complementation Group H
Peroxisome Biogenesis Disorder, Complementation Group H 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2005 2005
CUI: C0025319
Disease: Menopausal syndrome
Menopausal syndrome 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C1837802
Disease: Decreased serum leptin
Decreased serum leptin 		phenotype Finding 8 0.100 None 0
CUI: C0278688
Disease: Stage IV Ovarian Carcinoma
Stage IV Ovarian Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 9 0.010 None 1.000 1 2015 2015
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 9 0.300 None 1.000 1 2009 2009
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 10 14 0.300 None 1.000 1 2009 2009
CUI: C1865292
Disease: Nonketotic hypoglycemia
Nonketotic hypoglycemia 		phenotype Nutritional and Metabolic Diseases Finding 11 0.100 None 0
CUI: C0347284
Disease: Benign tumor of pancreas
Benign tumor of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 13 0.300 None 0
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 14 11 0.300 limited 1.000 1 2007 2007
CUI: C0272386
Disease: Hypertrophy of tonsils
Hypertrophy of tonsils 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 5 0.100 None 0
CUI: C1856438
Disease: Hypoketotic hypoglycemia
Hypoketotic hypoglycemia 		phenotype Nutritional and Metabolic Diseases Finding 15 0.100 None 0
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 16 23 0.300 None 1.000 1 2009 2009
CUI: C1321865
Disease: Juvenile astrocytoma
Juvenile astrocytoma 		disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2007 2007
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 18 6 0.010 None 1.000 1 2013 2013
CUI: C1332183
Disease: Adult Astrocytic Tumor
Adult Astrocytic Tumor 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 2007 2007
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: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures 		disease Nutritional and Metabolic Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 21 2 0.110 None 1.000 1 2007 2007
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 22 76 0.010 None 1.000 1 2019 2019