TFRC, transferrin receptor, 7037

N. diseases: 359; N. variants: 40
Disease: Combined immunodeficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.400 Biomarker disease GENOMICS_ENGLAND A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. 26642240 2016
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.400 CausalMutation disease CLINVAR