TFRC, transferrin receptor, 7037

N. diseases: 359; N. variants: 40
Disease: IMMUNODEFICIENCY 46 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225219
Disease: IMMUNODEFICIENCY 46
IMMUNODEFICIENCY 46 		0.700 GeneticVariation disease UNIPROT A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. 26642240 2016
CUI: C4225219
Disease: IMMUNODEFICIENCY 46
IMMUNODEFICIENCY 46 		0.700 GermlineCausalMutation disease ORPHANET A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. 26642240 2016
CUI: C4225219
Disease: IMMUNODEFICIENCY 46
IMMUNODEFICIENCY 46 		0.700 Biomarker disease CTD_human
CUI: C4225219
Disease: IMMUNODEFICIENCY 46
IMMUNODEFICIENCY 46 		0.700 CausalMutation disease CLINVAR