TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
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: C0400823
Disease: Neutropenic colitis
Neutropenic colitis
disease Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 strong 1.000 3 1999 2009
CUI: C1852146
Disease: DERMODISTORTIVE URTICARIA
DERMODISTORTIVE URTICARIA
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 3 0.010 None 1.000 1 1981 1981
CUI: C0238801
Disease: Bone marrow megaloblastic (finding)
Bone marrow megaloblastic (finding)
phenotype Laboratory or Test Result 4 0.400 strong 1.000 3 1999 2009
CUI: C0267537
Disease: Typhlitis
Typhlitis
disease Digestive System Diseases; Infections Disease or Syndrome 4 0.300 strong 1.000 3 1999 2009
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency
disease Disease or Syndrome 5 5 0.720 None 1.000 9 5 1984 2014
CUI: C0041782
Disease: Deficiency anemias
Deficiency anemias
group Hemic and Lymphatic Diseases Disease or Syndrome 5 0.010 None 1.000 1 1994 1994
Structural Clinical Interview for DSM-III
phenotype Diagnostic Procedure 5 0.300 strong 1.000 1 2009 2009
CUI: C0002892
Disease: Anemia, Pernicious
Anemia, Pernicious
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 16 4 0.020 None 1.000 2 2 2006 2015
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia
phenotype Finding 17 0.100 None 0
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
disease Hemic and Lymphatic Diseases Disease or Syndrome 26 2 0.330 None 1.000 4 1972 2003
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 26 0.100 None 0
CUI: C3887639
Disease: Autoimmune gastritis
Autoimmune gastritis
disease Digestive System Diseases Disease or Syndrome 28 1 0.010 None 1.000 1 1 2015 2015
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 29 11 0.030 None 1.000 3 2 2003 2017
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 33 4 0.100 None 0
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability
phenotype Cell or Molecular Dysfunction 34 1 0.100 None 0
CUI: C0205649
Disease: Adenoma, Monomorphic
Adenoma, Monomorphic
disease Neoplasms Neoplastic Process 36 0.300 None 1.000 1 2007 2007
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular
disease Neoplasms Neoplastic Process 37 0.300 None 1.000 1 2007 2007
CUI: C0205650
Disease: Papillary adenoma
Papillary adenoma
disease Neoplasms Neoplastic Process 39 0.300 None 1.000 1 2007 2007
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 43 1 0.300 strong 1.000 3 1999 2009
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic
disease Neoplasms Neoplastic Process 45 0.300 None 1.000 1 2007 2007
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell
disease Neoplasms Neoplastic Process 49 0.300 None 1.000 1 2007 2007
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect
disease Congenital Abnormality 51 45 0.010 None 1.000 1 1 2012 2012
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 51 2 0.100 None 0
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 55 8 0.300 strong 1.000 1 2009 2009
Childhood Ataxia with Central Nervous System Hypomyelinization
disease Nervous System Diseases Disease or Syndrome 59 63 0.300 None 1.000 1 2005 2005