HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Disease: alpha 1-Antitrypsin Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799945
rs1799945
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		0.020 GeneticVariation BEFREE Finally, these findings support a larger scale screening for HERPUD1 R50H and HFE H63D variants in the sub-group of 1ATD patients developing significant chronic hepatic injuries (hepatomegaly, chronic cholestasis, elevated liver enzymes) and at risk developing liver cirrhosis. 28617828 2017
dbSNP: rs1799945
rs1799945
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		0.020 GeneticVariation BEFREE In conclusion, total H63D mutations were high (42%) in cirrhotics with alpha-1-antitrypsin deficiency and there was a significant association between HFE mutations and high levels of iron accumulation. 20208481 2010