TFRC, transferrin receptor, 7037

N. diseases: 359; N. variants: 40
Disease: Omenn Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.300 Biomarker disease CTD_human A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. 26642240 2016