|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
This GNPAT variant does not appear be a co-modifying gene affecting expression of HFE related hemochromatosis in this population.
|
27740525 |
2017 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic mutations in the HFE gene are present in most patients with hemochromatosis.
|
14673391 |
2004 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Non-invasive assessment of liver fibrosis in C282Y homozygous HFE hemochromatosis.
|
25495562 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
RT-PCR was performed using HFE specific primers and duodenal RNA obtained from patients with hemochromatosis, iron deficiency, secondary iron overload and normal controls.
|
10349514 |
1999 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Current directions in hemochromatosis research: towards an understanding of the role of iron overload and the HFE gene mutations in the development of clinical disease.
|
12638463 |
2003 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
|
9106528 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
|
14633868 |
2003 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
In iron-normalized patients with HFE hemochromatosis, both the low baseline hepcidin level and the weak response to iron contribute to hyperabsorption of iron.
|
21173098 |
2011 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Conditional probabilities were determined using published Australian allele frequencies and penetrance data to determine the detection rate of hemochromatosis by testing the siblings and offspring of heterozygotes (subjects with only one HFE mutation).
|
12121511 |
2002 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
The natural history of untreated HFE-related hemochromatosis.
|
19907150 |
2009 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
Some clinical and pathologic characteristics, such as low penetrance in the premenopausal woman, and early iron deposition in periportal hepatocytes resembled those of classic, HFE-related hemochromatosis.
|
11984516 |
2002 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
Non-HFE hemochromatosis.
|
16315138 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Subjects with hemochromatosis are valuable as blood donors independent of their HFE genotype.
|
20345568 |
2010 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The identification of the HFE gene involved in hemochromatosis allows genetic tests based on mutation analysis to be performed.
|
10870847 |
2000 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
We conclude that uncommon HFE exon and intron mutations may be discovered among hemochromatosis patients who have "atypical" HFE genotypes.
|
10575540 |
1999 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
Iron chelation with deferasirox in two patients with HFE hemochromatosis and chronic anemia.
|
21659727 |
2011 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.
|
9024376 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A.
|
9531249 |
1998 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Rare HFE variants are therefore the most frequent cause of hemochromatosis in non-C282Y homozygote HFE patients.Am.J. Hematol.91:1202-1205, 2016.
|
27518069 |
2016 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The low prevalence of the C282Y mutation of the HFE gene in Japan means that the genetic background of hemochromatosis in Japanese patients remains unclear.
|
15749661 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.
|
11812557 |
2002 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A recently developed strip-assay for hemochromatosis provides a rapid method for simultaneous detection of multiple mutations, which among others includes the HFE gene mutations V53M, V59M, H63D, H63H, S65C, Q127H, E168Q, and C282Y, previously detected in the general South African population using gel-based mutation-screening methods.
|
15025725 |
2004 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation.
|
10477778 |
1999 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The evidence that mutations in the HFE gene for hemochromatosis are associated with increased cancer risk is inconsistent.
|
20099304 |
2010 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands.
|
15042317 |
2005 |