PMID-sentid Pub_year Sent_text compound_name comp_offset prot_official_name organism prot_offset 11040018-1 2000 BACKGROUND: Two common mutations of the haemochromatosis associated gene (HFE) (cys282tyr (C282Y) and his63asp (H63D)) have been implicated in haemochromatosis and as modulators in cardiovascular disease. cys282tyr 80-89 homeostatic iron regulator Homo sapiens 74-77 9199565-9 1997 The cys282tyr mutation in HLA-H, a candidate gene for hh, was found in 85% of disease chromosomes. cys282tyr 4-13 major histocompatibility complex, class I, H (pseudogene) Homo sapiens 26-31 32329251-1 2020 BACKGROUND: A 61-year-old woman underwent direct to consumer genetic testing and was found to be homozygous for the C282Y HFE variant (c.845G>A :p.Cys282Tyr) which is classified as pathogenic/likely pathogenic for hereditary hemochromatosis. cys282tyr 147-156 homeostatic iron regulator Homo sapiens 122-125 9732941-2 1998 He was also found to be heterozygous for the cys282tyr mutation of the HFE gene, which is the chief cause of HLA-linked hereditary hemochromatosis (HHC). cys282tyr 45-54 homeostatic iron regulator Homo sapiens 71-74 34824033-3 2022 In the present review, the main aims are to show updates on hemochromatosis and to report a practical set of therapeutic recommendations for the human factors engineering protein (HFE) hemochromatosis for the p.Cys282Tyr (C282Y/C282Y) homozygous genotype, elaborated by the Haemochromatosis International Taskforce. cys282tyr 211-220 homeostatic iron regulator Homo sapiens 180-183