Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2694
Gene Symbol: CBLIF
CBLIF
0.050 Biomarker disease BEFREE This disease is characterized by the deficiency of vitamin B12 due to the presence of anti-intrinsic factor and anti-parietal cell antibodies which inhibit the absorption of the vitamin B12. 31417815 2019
Entrez Id: 2694
Gene Symbol: CBLIF
CBLIF
0.050 Biomarker disease BEFREE Pernicious anemia (PA) is an autoimmune disease of multifactorial etiologies characterized by autoimmune chronic atrophic gastritis, cobalamin deficiency (CD) due to defective absorption of dietary cobalamin from the terminal ileum, and by the presence of intrinsic factor and parietal cell antibodies. 28972879 2017
Entrez Id: 2694
Gene Symbol: CBLIF
CBLIF
0.050 Biomarker disease BEFREE Diagnosis of PA relies on histologically proven atrophic body gastritis, peripheral blood examination showing megaloblastic anemia with hypersegmented neutrophils, cobalamin deficiency and antibodies to intrinsic factor and to gastric parietal cells. 24424200 2014
Entrez Id: 2694
Gene Symbol: CBLIF
CBLIF
0.050 Biomarker disease BEFREE Cubulin mutations cause a hereditary form of megaloblastic anemia secondary to vitamin B(12) deficiency, and proteinuria occurs in 50% of cases since cubilin is coreceptor for both the intestinal vitamin B(12)-intrinsic factor complex and the tubular reabsorption of protein in the proximal tubule. 21903995 2011
Entrez Id: 51293
Gene Symbol: CD320
CD320
0.040 Biomarker disease BEFREE Our Cd320 KO mouse model is an ideal model system for studying vitamin B12 deficiency. 30124850 2018
Entrez Id: 51293
Gene Symbol: CD320
CD320
0.040 Biomarker disease BEFREE Our study suggests that the CD320 knockout mouse develops behavioral deficits associated with cobalamin deficiency and therefore could provide a model to understand the metabolic and genetic basis of neuro-pathologic changes due to cobalamin deficiency. 28545069 2017
Entrez Id: 51293
Gene Symbol: CD320
CD320
0.040 Biomarker disease BEFREE Although not significant when corrected for multiple testing, eight single nucleotide polymorphisms (SNPs) in two genes, transcobalamin II (TCN2) and the transcobalamin II-receptor (TCblR), were found to influence several clinical traits of cobalamin deficiency. 25657319 2015
Entrez Id: 51293
Gene Symbol: CD320
CD320
0.040 Biomarker disease BEFREE The transcobalamin receptor knockout mouse: a model for vitamin B12 deficiency in the central nervous system. 23430977 2013
Entrez Id: 23531
Gene Symbol: MMD
MMD
0.030 Biomarker disease BEFREE Cobalamin deficiency was noted in 35/40 (87.5%) but fold increases in MMA and HC were 30 and 6, respectively. 29454538 2018
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
0.030 GeneticVariation disease BEFREE TCN2 (rs1801198, rs9606756) polymorphisms as well as folate deficiency and vitamin B12 deficiency are correlated with CD. 28472811 2017
Entrez Id: 23531
Gene Symbol: MMD
MMD
0.030 AlteredExpression disease BEFREE In the folic acid post-fortification era, we have shown that in elderly participants in NHANES 1999-2002, high plasma folate level is associated with exacerbation of both clinical (anemia and cognitive impairment) and biochemical (high MMA and high Hcy plasma levels) signs of vitamin B12 deficiency. 27131640 2016
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
0.030 Biomarker disease BEFREE Although not significant when corrected for multiple testing, eight single nucleotide polymorphisms (SNPs) in two genes, transcobalamin II (TCN2) and the transcobalamin II-receptor (TCblR), were found to influence several clinical traits of cobalamin deficiency. 25657319 2015
Entrez Id: 23531
Gene Symbol: MMD
MMD
0.030 GeneticVariation disease BEFREE Individuals with MMA concentrations >0.5 micromol/l (vitamin B(12) deficiency) were found only in the CAD group (P = 0.004). 19283448 2010
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
0.030 Biomarker disease BEFREE Complete absence of TC-II or total functional abnormality causes tissue vitamin B12 deficiency resulting in a severe disease with megaloblastic anemia and immunologic and intestinal abnormalities in the first months of life. 14689755 2003
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
0.020 GeneticVariation disease BEFREE The other two variants displayed negative effects on the expression of the HCFC1 target gene MMACHC, which is responsible for the metabolism of cobalamin, suggesting that these individuals may also be susceptible to cobalamin deficiency. 25740848 2015
Entrez Id: 6947
Gene Symbol: TCN1
TCN1
0.020 AlteredExpression disease BEFREE Haptocorrin levels were within the reference range and no signs of cobalamin deficiency were found. 23183759 2013
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
0.020 Biomarker disease BEFREE The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans. 21497120 2011
Entrez Id: 5473
Gene Symbol: PPBP
PPBP
0.020 AlteredExpression disease BEFREE They also add new approaches to studying mild and severe TC I deficiency and to reducing confusion of its low cobalamin levels with those of cobalamin deficiency and its often dramatically different prognosis and management. 19686235 2009
Entrez Id: 6947
Gene Symbol: TCN1
TCN1
0.020 AlteredExpression disease BEFREE They also add new approaches to studying mild and severe TC I deficiency and to reducing confusion of its low cobalamin levels with those of cobalamin deficiency and its often dramatically different prognosis and management. 19686235 2009
Entrez Id: 5473
Gene Symbol: PPBP
PPBP
0.020 Biomarker disease BEFREE Complete absence of TC-II or total functional abnormality causes tissue vitamin B12 deficiency resulting in a severe disease with megaloblastic anemia and immunologic and intestinal abnormalities in the first months of life. 14689755 2003
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
0.010 Biomarker disease BEFREE CA 15-3 predicting breast cancer relapse: beware of vitamin B12 deficiency. 29745746 2018
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
0.010 AlteredExpression disease BEFREE In contrast, the plasma hepcidin levels were significantly lower in the iron deficiency group (p < 0.01) when compared to the control group; however, no significant differences were observed in the vitamin B12 deficiency group. 28691407 2017
Entrez Id: 4925
Gene Symbol: NUCB2
NUCB2
0.010 AlteredExpression disease BEFREE Nesfatin-1 hormone levels were identified for the first time in childhood iron deficiency and vitamin B12 deficiency anemias within this study and this hormone may also be useful in the differential diagnosis of anemias. 28691407 2017
Entrez Id: 57215
Gene Symbol: THAP11
THAP11
0.010 Biomarker disease BEFREE Putative binding sites for HCFC1 and its binding partner THAP11 were identified near genes of the glycine cleavage enzyme, providing a potential mechanistic link between HCFC1 mutations and increased glycine. 28363510 2017
Entrez Id: 106480993
Gene Symbol: RN7SL263P
RN7SL263P
0.010 Biomarker disease BEFREE The adjusted geometric means of the RBC folate concentration increased significantly (<i>P</i>-trend < 0.001) in WCBA who had normal vitamin B-12 status relative to WCBA who were vitamin B-12 deficient.<b>Conclusions:</b> In Belize, the prevalence of folate and vitamin B-12 deficiencies continues to be a public health concern among WCBA. 28404832 2017