TF, transferrin, 7018

N. diseases: 168; N. variants: 74
Disease: Congenital atransferrinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 GeneticVariation disease BEFREE A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene. 18097132 2007
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 GeneticVariation disease CLINVAR Effects of plasma transfusion on hepcidin production in human congenital hypotransferrinemia. 17768112 2007
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 GeneticVariation disease UNIPROT Molecular characterization of a third case of human atransferrinemia. 15466165 2004
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 Biomarker disease CTD_human Molecular analysis of the transferrin gene in a patient with hereditary hypotransferrinemia. 12111369 2002
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 GeneticVariation disease CLINVAR Biochemical and genetic defects underlying human congenital hypotransferrinemia. 11920219 2000
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 Biomarker disease GENOMICS_ENGLAND The effect of transferrin polymorphisms on iron metabolism. 10660486 2000
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 GeneticVariation disease UNIPROT Molecular characterization of a case of atransferrinemia. 11110675 2000
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 Biomarker disease GENOMICS_ENGLAND Molecular characterization of a case of atransferrinemia. 11110675 2000
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 Biomarker disease CTD_human Molecular characterization of a case of atransferrinemia. 11110675 2000
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 Biomarker disease GENOMICS_ENGLAND Congenital atransferrinemia. A case report and review of the literature. 1862777 1991
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 Biomarker disease MGD Hereditary hypotransferrinemia with hemosiderosis, a murine disorder resembling human atransferrinemia. 3681112 1987
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 Biomarker disease HPO
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 CausalMutation disease CLINVAR
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 GermlineCausalMutation disease ORPHANET