|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major.
|
31707418 |
2019 |
|
rs1800562
|
|
Cooley's anemia
|
|
0.050 |
GeneticVariation
|
BEFREE |
Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major.
|
31707418 |
2019 |
|
rs1800562
|
|
Cooley's anemia
|
|
0.050 |
GeneticVariation
|
BEFREE |
Investigation of correlation between H63D and C282Y mutations in HFE gene and serum Ferritin level in beta-thalassemia major patients.
|
31679808 |
2019 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene.
|
31582009 |
2019 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.
|
31522215 |
2019 |
|
rs1800562
|
|
Cooley's anemia
|
|
0.050 |
GeneticVariation
|
BEFREE |
Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.
|
31522215 |
2019 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
The rate of HFE c.845G>A (p.Cys282Tyr) homozygotes in the CRC group reinforces a previously reported, but relatively unexplored, association between hemochromatosis and CRC.
|
31422818 |
2019 |
|
rs1800562
|
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The rate of HFE c.845G>A (p.Cys282Tyr) homozygotes in the CRC group reinforces a previously reported, but relatively unexplored, association between hemochromatosis and CRC.
|
31422818 |
2019 |
|
rs1800562
|
|
Colorectal Carcinoma
|
|
0.080 |
GeneticVariation
|
BEFREE |
The rate of HFE c.845G>A (p.Cys282Tyr) homozygotes in the CRC group reinforces a previously reported, but relatively unexplored, association between hemochromatosis and CRC.
|
31422818 |
2019 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
These diagnoses are more common than HH among patients with elevated serum ferritin who are not C282Y homozygotes or C282Y/H63D compound heterozygotes.
|
31335359 |
2019 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
A secondary cause for liver disease should be excluded among patients with suspected iron overload who are not C282Y homozygotes.
|
31335359 |
2019 |
|
rs1800562
|
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
A secondary cause for liver disease should be excluded among patients with suspected iron overload who are not C282Y homozygotes.
|
31335359 |
2019 |
|
rs1800562
|
|
Hepatitis C
|
|
0.100 |
GeneticVariation
|
BEFREE |
Prevalence of anti-HCV in post-screening participants with HFE p.C282Y homozygosity and chronic HCV infection in referred adults with HFE p.C282Y homozygosity in North America is similar to that of Control participants with HFE wt/wt and normal screening TS/SF.
|
31056361 |
2020 |
|
rs1800562
|
|
Hepatitis C, Chronic
|
|
0.070 |
GeneticVariation
|
BEFREE |
Prevalence and characteristics of anti-HCV positivity and chronic hepatitis C virus infection in HFE p.C282Y homozygotes.
|
31056361 |
2020 |
|
rs1800562
|
|
Virus Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
Prevalence and characteristics of anti-HCV positivity and chronic hepatitis C virus infection in HFE p.C282Y homozygotes.
|
31056361 |
2020 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Homozygosity for the p.C282Y substitution in the HFE protein encoded by the hemochromatosis gene on chromosome 6p (HFE) is a common genetic trait that increases susceptibility to iron overload.McLaren et al. used bivariate mixture modeling to analyze the joint population distribution of transferrin saturation (TS) and serum ferritin concentration (SF) measured for participants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
|
30913256 |
2019 |
|
rs1800562
|
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Homozygosity for the p.C282Y substitution in the HFE protein encoded by the hemochromatosis gene on chromosome 6p (HFE) is a common genetic trait that increases susceptibility to iron overload.McLaren et al. used bivariate mixture modeling to analyze the joint population distribution of transferrin saturation (TS) and serum ferritin concentration (SF) measured for participants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
|
30913256 |
2019 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Homozygosity for the p.C282Y substitution in the HFE protein encoded by the hemochromatosis gene on chromosome 6p (HFE) is a common genetic trait that increases susceptibility to iron overload.McLaren et al. used bivariate mixture modeling to analyze the joint population distribution of transferrin saturation (TS) and serum ferritin concentration (SF) measured for participants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
|
30913256 |
2019 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
In hereditary hemochromatosis, iron overload is associated with homozygosity for the p.C282Y mutation.
|
30827762 |
2019 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
In hereditary hemochromatosis, iron overload is associated with homozygosity for the p.C282Y mutation.
|
30827762 |
2019 |
|
rs1800562
|
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
In Northern-European ancestry populations, HFE gene C282Y mutations are relatively common (0.3%-0.6% rare homozygote prevalence) and associated with excessive iron absorption, fatigue, diabetes, arthritis, and liver disease, especially in men.
|
30657865 |
2019 |
|
rs1800562
|
|
Diabetes
|
|
0.100 |
GeneticVariation
|
BEFREE |
In Northern-European ancestry populations, HFE gene C282Y mutations are relatively common (0.3%-0.6% rare homozygote prevalence) and associated with excessive iron absorption, fatigue, diabetes, arthritis, and liver disease, especially in men.
|
30657865 |
2019 |
|
rs1800562
|
|
Diabetes Mellitus
|
|
0.100 |
GeneticVariation
|
BEFREE |
In Northern-European ancestry populations, HFE gene C282Y mutations are relatively common (0.3%-0.6% rare homozygote prevalence) and associated with excessive iron absorption, fatigue, diabetes, arthritis, and liver disease, especially in men.
|
30657865 |
2019 |
|
rs1800562
|
|
Arthritis
|
|
0.080 |
GeneticVariation
|
BEFREE |
In Northern-European ancestry populations, HFE gene C282Y mutations are relatively common (0.3%-0.6% rare homozygote prevalence) and associated with excessive iron absorption, fatigue, diabetes, arthritis, and liver disease, especially in men.
|
30657865 |
2019 |
|
rs1800562
|
|
Fatigue
|
|
0.020 |
GeneticVariation
|
BEFREE |
In Northern-European ancestry populations, HFE gene C282Y mutations are relatively common (0.3%-0.6% rare homozygote prevalence) and associated with excessive iron absorption, fatigue, diabetes, arthritis, and liver disease, especially in men.
|
30657865 |
2019 |