MAT2A, methionine adenosyltransferase 2A, 4144

N. diseases: 81; N. variants: 1
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.
Aneurysm of descending thoracic aorta
phenotype Cardiovascular Diseases Anatomical Abnormality 15 0.100 None 0
CUI: C4022878
Disease: Descending aortic dissection
Descending aortic dissection
disease Cardiovascular Diseases Disease or Syndrome 15 0.100 None 0
Hepatic methionine adenosyltransferase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 16 15 0.010 None 1.000 1 2015 2015
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 16 3 0.010 None 1.000 1 2015 2015
CUI: C0013405
Disease: Dyspnea, Paroxysmal
Dyspnea, Paroxysmal
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 16 0.100 None 0
CUI: C1851712
Disease: Dural ectasia
Dural ectasia
phenotype Finding 16 1 0.100 None 0
CUI: C4476554
Disease: Carotid artery dilatation
Carotid artery dilatation
phenotype Anatomical Abnormality 16 0.100 None 0
CUI: C4025690
Disease: Prenatal maternal abnormality
Prenatal maternal abnormality
disease Anatomical Abnormality 23 2 0.100 None 0
CUI: C1836653
Disease: Ascending aortic dissection
Ascending aortic dissection
phenotype Cardiovascular Diseases Disease or Syndrome 25 1 0.100 None 0
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery
phenotype Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality 26 1 0.100 None 0
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology
disease Anatomical Abnormality 27 0.100 None 0
CUI: C0546884
Disease: Hypovolemia
Hypovolemia
phenotype Pathological Conditions, Signs and Symptoms Finding 37 3 0.100 None 0
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root
disease Cardiovascular Diseases Anatomical Abnormality 39 15 0.100 None 0
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
group Cardiovascular Diseases Disease or Syndrome 43 2 0.010 None 1.000 1 2015 2015
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
phenotype Anatomical Abnormality 46 11 0.100 None 0
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
disease Endocrine System Diseases Disease or Syndrome 52 5 0.010 None 1.000 1 2018 2018
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.600 limited 1.000 1 2015 2015
CUI: C0019079
Disease: Hemoptysis
Hemoptysis
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 67 1 0.100 None 0
CUI: C0032326
Disease: Pneumothorax
Pneumothorax
phenotype Respiratory Tract Diseases Disease or Syndrome 69 3 0.100 None 0
CUI: C0241240
Disease: Tall stature
Tall stature
phenotype Finding 79 14 0.100 None 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 80 9 0.100 None 0
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left
phenotype Cardiovascular Diseases Pathologic Function 88 0.100 None 0
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
phenotype Endocrine System Diseases Disease or Syndrome 90 10 0.010 None 1.000 1 2018 2018
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 102 25 0.100 None 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 102 3 0.100 None 0