CD320, CD320 molecule, 51293

N. diseases: 20; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150900
Disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT 		0.900 Biomarker disease MGD The transcobalamin receptor knockout mouse: a model for vitamin B12 deficiency in the central nervous system. 23430977 2013
CUI: C3150900
Disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT 		0.900 GeneticVariation disease CLINVAR Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). 20524213 2010
CUI: C3150900
Disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT 		0.900 Biomarker disease GENOMICS_ENGLAND Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). 20524213 2010
CUI: C3150900
Disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT 		0.900 GermlineCausalMutation disease ORPHANET Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). 20524213 2010
CUI: C3150900
Disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT 		0.900 CausalMutation disease CLINVAR
CUI: C3150900
Disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT 		0.900 Biomarker disease CTD_human
CUI: C4749905
Disease: Methylmalonic aciduria due to transcobalamin receptor defect
Methylmalonic aciduria due to transcobalamin receptor defect 		0.300 Biomarker disease GENOMICS_ENGLAND Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). 20524213 2010
CUI: C0348484
Disease: Other disorders of branched-chain amino-acid metabolism
Other disorders of branched-chain amino-acid metabolism 		0.200 Biomarker disease MGD The transcobalamin receptor knockout mouse: a model for vitamin B12 deficiency in the central nervous system. 23430977 2013
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.110 GeneticVariation disease BEFREE Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). 20524213 2010
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.110 Biomarker disease HPO
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		0.040 Biomarker disease BEFREE Our Cd320 KO mouse model is an ideal model system for studying vitamin B12 deficiency. 30124850 2018
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		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
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		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
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		0.040 Biomarker disease BEFREE The transcobalamin receptor knockout mouse: a model for vitamin B12 deficiency in the central nervous system. 23430977 2013
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.010 Biomarker disease BEFREE Dietary restriction of vitamin B12 induces a severe macrocytic anemia in Cd320 KO mice after 10-12 months while control mice on this diet are anemia-free up to 2 years. 30124850 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation disease BEFREE Lumbar cerebrospinal fluid samples from 42 pathologically-confirmed cases of Alzheimer's disease and 25 non-demented controls were analyzed for sCD320 employing an in-house ELISA. 28486088 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE In vitro studies employing the CD320 receptor-positive breast cancer cell line MDA-MB-453 showed a 6- to 10-fold greater uptake of <sup>89</sup>Zr-Cbl when compared with the uptake in the presence of 200-fold excess of CN-Cbl at 37 °C. 29104950 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE We used nude mice with MDA-MB-453 tumors to study the feasibility of employing the tracer to visualize CD320 positive tumors. 29104950 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE In vitro studies employing the CD320 receptor-positive breast cancer cell line MDA-MB-453 showed a 6- to 10-fold greater uptake of <sup>89</sup>Zr-Cbl when compared with the uptake in the presence of 200-fold excess of CN-Cbl at 37 °C. 29104950 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 GeneticVariation group BEFREE We identified novel associations between SNPs in CD320 and DNMT2, which had been previously associated with neural tube defects, and vitamin B-12 status, as well as between SNPs in SHMT1, which had been previously associated with colorectal cancer and cardiovascular disease risk, and RBC folate status. 25948668 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 GeneticVariation disease BEFREE We identified novel associations between SNPs in CD320 and DNMT2, which had been previously associated with neural tube defects, and vitamin B-12 status, as well as between SNPs in SHMT1, which had been previously associated with colorectal cancer and cardiovascular disease risk, and RBC folate status. 25948668 2015
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 GeneticVariation disease BEFREE We identified novel associations between SNPs in CD320 and DNMT2, which had been previously associated with neural tube defects, and vitamin B-12 status, as well as between SNPs in SHMT1, which had been previously associated with colorectal cancer and cardiovascular disease risk, and RBC folate status. 25948668 2015
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 GeneticVariation group BEFREE Polymorphisms of genes involved in B vitamin absorption, metabolism and function, such as methylene tetrahydrofolate reductase (MTHFR), cystathionine β synthase (CβS), transcobalamin 2 receptor (TCN2) and methionine synthase reductase (MTRR), have also been linked to increased incidence of psychiatric and cognitive disorders. 25173634 2014
CUI: C3472614
Disease: Plasmablastic lymphoma
Plasmablastic lymphoma 		0.010 Biomarker disease BEFREE Gene expression analysis of 5 of our PT-PBLs revealed upregulation of DNMT3B, PTP4A3, and CD320 in EBV-positive PT-PBL and suggested a role for cancer/testis antigens. 24832164 2014
CUI: C0035302
Disease: Retinal Artery Occlusion
Retinal Artery Occlusion 		0.010 GeneticVariation disease BEFREE A previously healthy 7-week-old boy developed bilateral central retinal artery occlusions in the presence of hyperhomocysteinemia and elevated serum methylmalonic acid and was found to have a transcobalamin receptor mutation. 22819238 2012