PPBP, pro-platelet basic protein, 5473

N. diseases: 111; N. variants: 0
Disease: Transcobalamin II deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.010 AlteredExpression disease BEFREE Some of the specific findings include (a) identification of the structural relationship of the ligand TC II with other members of the Cbl-binding family of proteins, intrinsic factor (IF) and haptocorrin (HC), (b) regulation of TC II gene expression, (c) molecular basis for human TC II deficiency in patients with a lack of plasma TC II, (d) membrane expression, interactions, and dimerization of TC II-R, and (e) targeting and function of TC II-R in polarized epithelial cells. 10714245 2000