CD320, CD320 molecule, 51293

N. diseases: 20; N. variants: 5
Disease: Vitamin B 12 Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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