TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: Iron Overload ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338880
rs80338880
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0282193
Disease:
Iron Overload 		0.030 GeneticVariation BEFREE Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload. 15020277 2004
dbSNP: rs80338880
rs80338880
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0282193
Disease:
Iron Overload 		0.030 GeneticVariation BEFREE The pathogenetic role of TFR2 in hemochromatosis has been recently further demonstrated through the targeted expression of the Y250X human mutation in mice, which develop sings of iron overload identical to the human disease. 12547237 2003
dbSNP: rs80338880
rs80338880
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0282193
Disease:
Iron Overload 		0.030 GeneticVariation BEFREE We conclude that Y250X is uncommon in Caucasians with hemochromatosis associated with atypical HFE genotypes, in African Americans with primary iron overload, and in the general Caucasian and African American population subgroups in central Alabama. 11358388 2001