|
rs111033563
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.
|
12737937 |
2004 |
|
rs111033563
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene.
|
11446670 |
2001 |
|
rs111033563
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation |
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 |
|
rs111033563
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.
|
9024376 |
1997 |
|
rs111033563
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.
|
10094552 |
1999 |
|
rs111033563
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation |
BEFREE |
We previously supported implication of the C282Y/Q283P compound heterozygous genotype in hemochromatosis phenotypes and, based on molecular dynamics simulations, proposed that the Q283P substitution prevents normal folding of the HFE alpha3-domain.
|
15965644 |
2005 |
|
rs111033563
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Comprehensive hereditary hemochromatosis genotyping.
|
12542741 |
2002 |
|
rs111033563
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.
|
11423500 |
2001 |
|
rs111033563
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America.
|
9620340 |
1998 |
|
rs111033563
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Gene symbol: HFE. Disease: Haemochromatosis.
|
15046077 |
2004 |
|
rs111033563
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.
|
18157833 |
2008 |
|
rs111033563
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Combined, our results indicate that the Q283P mutation leads to structural and functional consequences similar to those described for the main hereditary hemochromatosis mutation.
|
15965644 |
2005 |
|
rs111033563
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
|
8696333 |
1996 |
|
rs111033563
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
|
10194428 |
1999 |
|
rs111033563
|
HFE;LOC108783645
|
Adult Acute Lymphocytic Leukemia
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
rs111033563
|
HFE;LOC108783645
|
Acute leukemia
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
rs111033563
|
HFE;LOC108783645
|
Acute lymphocytic leukemia
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
rs111033563
|
HFE;LOC108783645
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
rs111033563
|
HFE;LOC108783645
|
Hemochromatosis
|
|
0.010 |
GeneticVariation |
BEFREE |
We previously supported implication of the C282Y/Q283P compound heterozygous genotype in hemochromatosis phenotypes and, based on molecular dynamics simulations, proposed that the Q283P substitution prevents normal folding of the HFE alpha3-domain.
|
15965644 |
2005 |
|
rs111033563
|
HFE;LOC108783645
|
Hereditary hemochromatosis
|
|
0.010 |
GeneticVariation |
BEFREE |
Combined, our results indicate that the Q283P mutation leads to structural and functional consequences similar to those described for the main hereditary hemochromatosis mutation.
|
15965644 |
2005 |
|
rs111033563
|
HFE;LOC108783645
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
rs1156920296
|
HFE;LOC108783645
|
Endometrial Hyperplasia
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with EH (n = 89), EH concurrent with ECa (n = 76), ECa (n = 186), and healthy controls (n = 1110) were genotyped for five polymorphic variants in the genes involved in metabolism of lipoproteins (APOE Cys112Arg and Arg158Cys), iron (HFE Cys282Tyr and His63Asp), and catecholamines (COMT Val158Met).
|
25741405 |
2015 |
|
rs1156920296
|
HFE;LOC108783645
|
Endometrial Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with EH (n = 89), EH concurrent with ECa (n = 76), ECa (n = 186), and healthy controls (n = 1110) were genotyped for five polymorphic variants in the genes involved in metabolism of lipoproteins (APOE Cys112Arg and Arg158Cys), iron (HFE Cys282Tyr and His63Asp), and catecholamines (COMT Val158Met).
|
25741405 |
2015 |
|
rs1167115018
|
HFE;LOC108783645
|
Hereditary hemochromatosis
|
|
0.010 |
GeneticVariation |
BEFREE |
The population also contain individuals with the Swedish long QT syndrome (LQTS1) founder mutation (<i>KCNQ1</i>/p.Y111C) which in homozygotes causes the Jervell & Lange Nielsen syndrome (JLNS) and hearing loss (HL).Aims of the study were to test whether the Swedish long QT founder mutation originated in an ancestral HFE family and if carriers had an increased risk for hemochromatosis (HH), a treatable disorder.
|
29270100 |
2017 |
|
rs1167115018
|
HFE;LOC108783645
|
Hemochromatosis
|
|
0.010 |
GeneticVariation |
BEFREE |
The population also contain individuals with the Swedish long QT syndrome (LQTS1) founder mutation (<i>KCNQ1</i>/p.Y111C) which in homozygotes causes the Jervell & Lange Nielsen syndrome (JLNS) and hearing loss (HL).Aims of the study were to test whether the Swedish long QT founder mutation originated in an ancestral HFE family and if carriers had an increased risk for hemochromatosis (HH), a treatable disorder.
|
29270100 |
2017 |