GNMT, glycine N-methyltransferase, 27232

N. diseases: 57; N. variants: 5
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: C0268613
Disease: Disorder of sulfur-bearing amino acid metabolism
Disorder of sulfur-bearing amino acid metabolism 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.200 None 1.000 3 2006 2009
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 3 0.900 limited 1.000 9 3 2000 2017
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 5 0.300 None 1.000 2 2001 2002
CUI: C0920027
Disease: Cholestatic hepatic disorder
Cholestatic hepatic disorder 		disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0494791
Disease: Hepatic fibrosis and cirrhosis
Hepatic fibrosis and cirrhosis 		disease Digestive System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0268621
Disease: Hepatic methionine adenosyltransferase deficiency
Hepatic methionine adenosyltransferase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 16 15 0.300 None 1.000 2 2001 2002
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 16 3 0.400 None 1.000 2 2001 2002
CUI: C0524611
Disease: Cryptogenic Chronic Hepatitis
Cryptogenic Chronic Hepatitis 		disease Digestive System Diseases Disease or Syndrome 22 0.300 None 1.000 1 2009 2009
CUI: C0149519
Disease: Chronic Persistent Hepatitis
Chronic Persistent Hepatitis 		disease Digestive System Diseases Disease or Syndrome 33 0.300 None 1.000 1 2009 2009
CUI: C4049993
Disease: Aristolochic Acid Nephropathy
Aristolochic Acid Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 49 0.010 None 1.000 1 2018 2018
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.010 None 1.000 1 2018 2018
CUI: C0205748
Disease: Dysplastic Nevus
Dysplastic Nevus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 104 7 0.010 None 1.000 1 2014 2014
CUI: C2676033
Disease: Hepatoblastoma Caused By Somatic Mutation
Hepatoblastoma Caused By Somatic Mutation 		disease Digestive System Diseases; Neoplasms Neoplastic Process 106 0.200 None 1.000 2 2007 2009
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.010 None 1.000 1 2019 2019
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		disease Digestive System Diseases Disease or Syndrome 122 34 0.300 None 1.000 1 2009 2009
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 224 10 0.300 None 1.000 1 2009 2009
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 246 45 0.300 None 1.000 1 2005 2005
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		disease Neoplastic Process 342 18 0.010 None 1.000 1 2014 2014
CUI: C0936223
Disease: Metastatic Prostate Carcinoma
Metastatic Prostate Carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 362 24 0.010 None 1.000 1 2014 2014
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 1 2017 2017
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.010 None 1.000 1 2018 2018
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 434 17 0.320 None 1.000 3 2019 2019
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		disease Neoplasms Neoplastic Process 452 22 0.200 None 1.000 2 2007 2009
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.010 None 1.000 1 2012 2012