TFRC, transferrin receptor, 7037

N. diseases: 359; N. variants: 40
Disease: Mucopolysaccharidosis II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.030 Biomarker disease BEFREE Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial. 30595526 2019
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.030 Biomarker disease BEFREE A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II. 29606503 2018
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.030 Biomarker disease BEFREE We recently developed a BBB-penetrating IDS fusion protein, JR-141, and demonstrated its ability to reduce GAG accumulation in the brain of human transferrin receptor knock-in and Ids knock-out mice (TFRC-KI/Ids-KO), an animal model of MPS II, following intravenous administration. 30064964 2018