TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
Disease: Anemia, Pernicious ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002892
Disease: Anemia, Pernicious
Anemia, Pernicious 		0.020 GeneticVariation disease BEFREE TCN2 (rs9606756) GG genotype, related with lower vitamin B12 levels, was found in 3 (3.6%) autoimmune gastritis patients (2 with pernicious anaemia), but in none of controls (p = 0.02). 25681243 2015
CUI: C0002892
Disease: Anemia, Pernicious
Anemia, Pernicious 		0.020 GeneticVariation disease BEFREE The patient was heterozygous for the transcobalamin (TC) II polymorphism 776C --> G. This case demonstrates the importance of functional assessment of intracellular B12 activity (e.g. serum homocysteine) in excluding B12 deficiency, the role of steroids in pernicious anaemia and a possible clinical correlation of a TCII polymorphism. 16343274 2006