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encyclopedia of Rare Disease Annotation for Precision Medicine



   hemochromatosis
  

Disease ID 302
Disease hemochromatosis
Definition
WHAT: Hemochromatosis: Hemochromatosis: a disorder of iron metabolism characterized by excess deposition of iron in the tissues, especially the liver. It is characterized by pigmentation of the skin, hepatic cirrhosis, decreased carbohydrate tolerance, cardiomyopathy and endocrinopathy (especially hypogonadism). Mainly seen in men over the age of 40 years. It has an associated arthropathy distinguished by involvement of the metacarpophalangeal joints (particularly the second and third), wrists, knees, shoulders, and hips. There is often an associated chondrocalcinosis.sWHY:sHemochromatosis is an autosomal recessive disease that produces an arthritis similar to osteoarthritis or pseudogout.sHOW:sHemochromatosis is diagnosed by the typical physical and radiographic findings supported by elevated serum iron concentrations and high transferrin saturations. Serum ferritin is also markedly elevated. Confirmation of the diagnosis can be done by demonstrating hepatic iron deposition on liver biopsy.
Synonym
bronze diabetes
bronze diabetes (disorder)
bronzed cirrhoses
bronzed cirrhosis
bronzed diabetes
cirrhoses, bronzed
cirrhoses, pigmentary
cirrhosis, bronzed
cirrhosis, pigmentary
diabetes bronze
diabetes, bronze
disease, von recklenhausen-applebaum
diseases, von recklenhausen-applebaum
disorder, iron storage
disorders iron storage
disorders, iron storage
haemochromatoses
haemochromatosis
hemochromatose
hemochromatoses
hemochromatosis (disorder)
hemochromatosis [disease/finding]
hemochromatosis nos
hemochromatosis, nos
iron accumulation disorders
iron overload disease
iron storage disease
iron storage disease, nos
iron storage disorder
iron storage disorders
pigmentary cirrhoses
pigmentary cirrhosis
recklenhausen-applebaum disease, von
recklenhausen-applebaum diseases, von
storage disorder, iron
storage disorders, iron
syndrome, troisier-hanot-chauffard
syndromes, troisier-hanot-chauffard
troisier hanot chauffard syndrome
troisier-hanot-chauffard syndrome
troisier-hanot-chauffard syndromes
von recklenhausen applebaum disease
von recklenhausen-applebaum disease
von recklenhausen-applebaum diseases
von recklinghausen-appelbaum disease
Orphanet
OMIM
DOID
UMLS
C0018995
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:45)
C0282193  |  iron overload  |  25
C0011847  |  diabetes  |  5
C0023890  |  cirrhosis  |  3
C0011860  |  type 2 diabetes  |  2
C0003864  |  arthritis  |  2
C0003873  |  rheumatoid arthritis  |  2
C0023895  |  liver disease  |  2
C0878544  |  cardiomyopathy  |  2
C0022408  |  arthropathy  |  2
C0039590  |  testicular cancer  |  1
C0455988  |  nonimmune hydrops fetalis  |  1
C0020305  |  hydrops fetalis  |  1
C0154830  |  proliferative diabetic retinopathy  |  1
C0376358  |  prostate cancer  |  1
C0026986  |  myelodysplastic syndrome  |  1
C0035309  |  retinopathy  |  1
C0345905  |  intrahepatic cholangiocarcinoma  |  1
C0020542  |  pulmonary hypertension  |  1
C0002395  |  alzheimer's disease  |  1
C0159069  |  impaired glucose tolerance  |  1
C0021053  |  immune disease  |  1
C0011884  |  diabetic retinopathy  |  1
C0019204  |  hepatocellular carcinoma  |  1
C0007113  |  rectal cancer  |  1
C0524851  |  neurodegenerative disease  |  1
C0017551  |  gilbert's syndrome  |  1
C0002736  |  amyotrophic lateral sclerosis  |  1
C0033847  |  pseudoxanthoma elasticum  |  1
C0029456  |  osteoporosis  |  1
C0032708  |  porphyria  |  1
C0022661  |  chronic kidney disease  |  1
C0022658  |  kidney disease  |  1
C0009402  |  colorectal cancer  |  1
C0011991  |  diarrhea  |  1
C0002871  |  anemia  |  1
C0011636  |  dermatophytosis  |  1
C0151744  |  ischaemic heart disease  |  1
C0039730  |  thalassemia  |  1
C0162566  |  porphyria cutanea tarda  |  1
C0158995  |  congenital anemia  |  1
C0024523  |  malabsorption  |  1
C0007642  |  cellulitis  |  1
C0022735  |  primary hypogonadism  |  1
C0149521  |  chronic pancreatitis  |  1
C0018799  |  heart disease  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:12)
7124  |  TNF  |  CTD_human
1356  |  CP  |  CTD_human
148738  |  HFE2  |  CTD_human;GHR;UNIPROT
654  |  BMP6  |  CTD_human
7036  |  TFR2  |  CTD_human;GHR;UNIPROT
3077  |  HFE  |  CTD_human;GHR;UNIPROT
57817  |  HAMP  |  CTD_human;GHR;UNIPROT
4891  |  SLC11A2  |  CTD_human
6718  |  AKR1D1  |  CTD_human
3240  |  HP  |  CTD_human
30061  |  SLC40A1  |  CTD_human;GHR
650  |  BMP2  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:23)
3077  |  HFE  |  CIPHER;CTD_human
30061  |  SLC40A1  |  CIPHER;CTD_human
650  |  BMP2  |  CIPHER;CTD_human
652  |  BMP4  |  CIPHER
2153  |  F5  |  CIPHER
57817  |  HAMP  |  CIPHER;CTD_human
148738  |  HFE2  |  CIPHER;CTD_human
3105  |  HLA-A  |  CIPHER
3106  |  HLA-B  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
3272  |  HRES1  |  CIPHER
3569  |  IL6  |  CIPHER
5265  |  SERPINA1  |  CIPHER
4891  |  SLC11A2  |  CIPHER;CTD_human
4086  |  SMAD1  |  CIPHER
4089  |  SMAD4  |  CIPHER
4090  |  SMAD5  |  CIPHER
7036  |  TFR2  |  CIPHER;CTD_human
7124  |  TNF  |  CIPHER;CTD_human
6718  |  AKR1D1  |  CTD_human
3240  |  HP  |  CTD_human
1356  |  CP  |  CTD_human
654  |  BMP6  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:63)
174  |  AFP  |  2.72  |  DISEASES
210  |  ALAD  |  2.298  |  DISEASES
212  |  ALAS2  |  2.623  |  DISEASES
567  |  B2M  |  3.57  |  DISEASES
631  |  BFSP1  |  2.469  |  DISEASES
650  |  BMP2  |  1.956  |  DISEASES
283598  |  C14orf177  |  2.288  |  DISEASES
846  |  CASR  |  4.654  |  DISEASES
6355  |  CCL8  |  1.455  |  DISEASES
146059  |  CDAN1  |  3.427  |  DISEASES
1544  |  CYP1A2  |  1.275  |  DISEASES
28982  |  FLVCR1  |  2.017  |  DISEASES
2512  |  FTL  |  4.098  |  DISEASES
2395  |  FXN  |  1.97  |  DISEASES
139716  |  GAB3  |  1.956  |  DISEASES
2641  |  GCG  |  1.341  |  DISEASES
728441  |  GGT2  |  1.934  |  DISEASES
10539  |  GLRX3  |  1.16  |  DISEASES
8443  |  GNPAT  |  3.4  |  DISEASES
2886  |  GRB7  |  1.111  |  DISEASES
2948  |  GSTM4  |  1.174  |  DISEASES
3043  |  HBB  |  3.871  |  DISEASES
10255  |  HCG9  |  2.267  |  DISEASES
9843  |  HEPH  |  4.78  |  DISEASES
3077  |  HFE  |  9.064  |  DISEASES
148738  |  HFE2  |  7.192  |  DISEASES
3010  |  HIST1H1T  |  2.055  |  DISEASES
3105  |  HLA-A  |  4.876  |  DISEASES
3106  |  HLA-B  |  2.75  |  DISEASES
3107  |  HLA-C  |  1.262  |  DISEASES
3133  |  HLA-E  |  1.476  |  DISEASES
10473  |  HMGN4  |  1.891  |  DISEASES
3240  |  HP  |  2.166  |  DISEASES
284424  |  MIR7-3HG  |  1.283  |  DISEASES
79903  |  NAA60  |  1.859  |  DISEASES
4700  |  NDUFA6  |  4.851  |  DISEASES
9054  |  NFS1  |  1.151  |  DISEASES
84552  |  PARD6G  |  2.098  |  DISEASES
9159  |  PCSK7  |  1.892  |  DISEASES
5313  |  PKLR  |  1.734  |  DISEASES
5498  |  PPOX  |  1.071  |  DISEASES
6992  |  PPP1R11  |  2.93  |  DISEASES
56963  |  RGMA  |  2.943  |  DISEASES
286133  |  SCARA5  |  1.294  |  DISEASES
5265  |  SERPINA1  |  2.84  |  DISEASES
4891  |  SLC11A2  |  5.353  |  DISEASES
6569  |  SLC34A1  |  2.015  |  DISEASES
83650  |  SLC35G5  |  1.361  |  DISEASES
113235  |  SLC46A1  |  1.496  |  DISEASES
4090  |  SMAD5  |  2.473  |  DISEASES
4093  |  SMAD9  |  2.291  |  DISEASES
55576  |  STAB2  |  1.17  |  DISEASES
56670  |  SUCNR1  |  1.852  |  DISEASES
54790  |  TET2  |  2.845  |  DISEASES
7018  |  TF  |  7.514  |  DISEASES
7037  |  TFRC  |  5.99  |  DISEASES
164656  |  TMPRSS6  |  5.066  |  DISEASES
7124  |  TNF  |  1.121  |  DISEASES
7321  |  UBE2D1  |  3.036  |  DISEASES
51465  |  UBE2J1  |  1.875  |  DISEASES
7390  |  UROS  |  1.528  |  DISEASES
7718  |  ZNF165  |  1.391  |  DISEASES
7753  |  ZNF202  |  1.513  |  DISEASES
Locus(Waiting for update.)
Disease ID 302
Disease hemochromatosis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:33)
HP:0001394  |  Hepatic cirrhosis  |  3
HP:0001369  |  Arthritis  |  2
HP:0001370  |  Rheumatoid arthritis  |  2
HP:0002863  |  Myelodysplastic syndrome  |  2
HP:0001638  |  Cardiomyopathy  |  2
HP:0003040  |  Arthropathy  |  2
HP:0002180  |  Neurodegeneration  |  2
HP:0001790  |  Nonimmune hydrops fetalis  |  1
HP:0003281  |  Increased ferritin  |  1
HP:0002092  |  Pulmonary artery hypertension  |  1
HP:0000135  |  Hypogonadism  |  1
HP:0000815  |  Primary hypogonadism  |  1
HP:0000488  |  Noninflammatory retina disease  |  1
HP:0002901  |  Hypocalcemia  |  1
HP:0012125  |  Prostate cancer  |  1
HP:0000819  |  Diabetes mellitus  |  1
HP:0008660  |  Renotubular dysgenesis  |  1
HP:0006280  |  Chronic pancreas inflammation  |  1
HP:0001789  |  Hydrops fetalis  |  1
HP:0002155  |  Increased triglycerides  |  1
HP:0000969  |  Dropsy  |  1
HP:0001903  |  Anemia  |  1
HP:0012531  |  Pain  |  1
HP:0001402  |  Hepatocellular carcinoma  |  1
HP:0002664  |  Neoplasia  |  1
HP:0000939  |  Osteoporosis  |  1
HP:0011675  |  Arrhythmias  |  1
HP:0002024  |  Intestinal malabsorption  |  1
HP:0012622  |  Chronic kidney disease  |  1
HP:0000833  |  Glucose intolerance  |  1
HP:0002014  |  Diarrhea  |  1
HP:0007354  |  Amyotrophic lateral sclerosis  |  1
HP:0100658  |  Bacterial infection of skin  |  1
Disease ID 302
Disease hemochromatosis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:74)
C2700513  |  aplastic anemia
C2697402  |  hypogonadotropic hypogonadism
C2678504  |  osteoporosis
C2242620  |  gonadal insufficiency
C2186538  |  thyroid disease
C2186532  |  liver disease
C2105245  |  hip arthropathy
C1963198  |  pancreatitis
C1963148  |  iron overload
C1963059  |  adrenal insufficiency
C1881236  |  interstitial disease
C1839611  |  n syndrome
C1706412  |  lipemia
C1623038  |  cirrhosis
C1504665  |  diabetic ketoacidosis
C1421374  |  porphyria cutanea tarda
C1384672  |  hypoparathyroidism
C1333387  |  endocrine syndrome
C1332124  |  nephrogenic diabetes insipidus
C1306589  |  congenital dyserythropoietic anemia type ii
C1167791  |  skin toxicity
C0878544  |  cardiomyopathy
C0751230  |  hypothalamic dysfunction
C0743125  |  insulin-resistant diabetes mellitus
C0574960  |  sacroiliitis
C0553730  |  chondrocalcinosis
C0549622  |  sexual dysfunction
C0456909  |  blindness
C0419203  |  osteopathy
C0271650  |  glucose intolerance
C0271623  |  secondary hypogonadism
C0271623  |  hypogonadotrophic hypogonadism
C0271001  |  siderosis
C0267830  |  pyogenic liver abscess
C0240066  |  iron deficiency
C0239946  |  liver fibrosis
C0239946  |  hepatic fibrosis
C0235259  |  subcapsular cataracts
C0151482  |  folic acid deficiency anemia
C0085605  |  liver failure
C0043407  |  yersinia infection
C0041782  |  deficiency anemia
C0040128  |  thyroid diseases
C0039103  |  synovitis
C0038454  |  apoplexy
C0037889  |  hereditary spherocytosis
C0029408  |  degenerative arthropathy
C0029166  |  oral manifestations
C0025517  |  metabolism disorders
C0023903  |  hepatoma
C0022408  |  joint diseases
C0022408  |  arthropathy
C0022408  |  arthropathies
C0020676  |  thyroid insufficiency
C0020619  |  hypogonadism
C0020541  |  portal hypertension
C0019204  |  hepatocellular carcinomas
C0019204  |  hepatocarcinoma
C0019151  |  hepatic encephalopathy
C0018801  |  heart failure
C0018799  |  heart disease
C0018799  |  cardiopathy
C0018799  |  cardiac disorders
C0017667  |  diabetic glomerulosclerosis
C0016412  |  folic acid deficiency
C0015411  |  eye manifestations
C0014130  |  endocrine disturbance
C0011884  |  diabetic retinopathy
C0011860  |  diabetes
C0011849  |  diabetes mellitus
C0004153  |  atherosclerosis
C0003864  |  arthritis
C0002879  |  acquired hemolytic anemia
C0000737  |  abdominal pain
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:13)
C0282193  |  iron overload  |  25
C0011847  |  diabetes  |  6
C0023890  |  cirrhosis  |  3
C0239946  |  liver fibrosis  |  2
C0878544  |  cardiomyopathy  |  2
C0022408  |  arthropathy  |  2
C0003864  |  arthritis  |  2
C0029456  |  osteoporosis  |  1
C0162566  |  porphyria cutanea tarda  |  1
C0011884  |  diabetic retinopathy  |  1
C0011849  |  diabetes mellitus  |  1
C0025517  |  metabolism disorders  |  1
C0019204  |  hepatocellular carcinoma  |  1
Manually Genotype(Total Manually Genotypes:2)
Gene Mutation DOI Article Title
HFEp.C282Y; Ex4:c.845G>A / p.C282Y (Other Reportable)doi:10.1038/gim.2015.30Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
HFEp.H63D36doi:10.1038/gim.2015.123Expanded genetic screening panel for the Ashkenazi Jewish population
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:246)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1048936621254723330061SLC40A1umls:C0018995BeFreeDominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics.0.1523387662002SLC40A12189571799TG
rs104894422103838946445SGCGumls:C0018995BeFreeThe HFE wild-type gene product complexes with the transferrin receptor (TF) and two different HFE mutations (Cys282Tyr and His63Asp) have been found to increase the affinity of TFR for TF and increase cellular iron uptake.0.0002714421999SGCG1323324513GA
rs143396368248160012395FXNumls:C0018995BeFreeAtypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.0.0002714422014FXN969072623GA,C
rs16952529335227306HPGDSumls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.0002714422015GSTP11167585218AG
rs1695252933526647SOD1umls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.0005428842015GSTP11167585218AG
rs1695252933523077HFEumls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.362015GSTP11167585218AG
rs1695252933522950GSTP1umls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.0002714422015GSTP11167585218AG
rs1695252933523483IGFALSumls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.0005428842015GSTP11167585218AG
rs1799945118872103077HFEumls:C0018995BeFreeAnalysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.0.362002HFE626090951CG
rs1799945147036883077HFEumls:C0018995BeFreeFrequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods.0.362003HFE626090951CG
rs1799945181578333077HFEumls:C0018995BeFreeAn 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 1.0.362008HFE626090951CG
rs1799945174830723077HFEumls:C0018995BeFreeIdentification of heterozygosity for the HFE gene mutation C282Y/H63D confirmed the diagnosis of hemochromatosis type 1.0.362007HFE626090951CG
rs1799945100249153133HLA-Eumls:C0018995BeFreeTwo siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although the brother harboured a single copy of the 187C-->G (H63D) allele, segregation analysis showed that in neither sibling was the iron-storage disease linked to MHC Class I markers on chromosome 6p.0.0024429771998HFE626090951CG
rs1799945253113143077HFEumls:C0018995BeFreeThe risk of hemochromatosis-related morbidity for HFE simple heterozygosity for either the C282Y or H63D substitutions in the HFE protein was assessed using a prospective community-based cohort study.0.362014HFE626090951CG
rs1799945164196113077HFEumls:C0018995BeFreeTwo sites of point mutations in the HFE gene, C282Y and H63D, are associated with more than 80% of haemochromatosis cases.0.362005HFE626090951CG
rs1799945181578337037TFRCumls:C0018995BeFreeAn 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 1.0.0182500762008HFE626090951CG
rs1799945116862233077HFEumls:C0018995BeFreeThe aims of this study were: 1) To determine the prevalence of the hemochromatosis associated mutations C282Y and H63D of the HFE gene in patients from Southern Germany with hemochromatosis phenotype; and 2) to test two new, time- and cost-saving methods: automated SSCP-based capillary electrophoresis (SSCP-CE) and a PCR-ELISA technique for the analysis of HFE mutations.0.362001HFE626090951CG
rs1799945120913673077HFEumls:C0018995BeFreeThe clinical features of HFE-related hemochromatosis were absent, as were the Cys282Tyr and His63Asp mutations.0.362002HFE626090951CG
rs1799945118872103105HLA-Aumls:C0018995BeFreeAnalysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.0.0312806242002HFE626090951CG
rs1799945217365623077HFEumls:C0018995BeFreeSimultaneous detection of HFE C282Y, H63D and S65C mutations associated with type 1 haemochromatosis using a multiplex luminex bead assay.0.362011HFE626090951CG
rs1799945219470863077HFEumls:C0018995BeFreeThe screening of Lithuanian blood donors has detected 13 (1.3%) subjects with a genotype C282Y/C282Y or C282Y/H63D responsible for the development of HFE-hemochromatosis.0.362012HFE626090951CG
rs1799945113589053077HFEumls:C0018995BeFreeFirst considered as a polymorphism of the HFE gene, the H63D mutation is now widely recognised as a haemochromatosis associated allele.0.362001HFE626090951CG
rs1799945126732763077HFEumls:C0018995BeFreeOur study shows that the HFE C282Y and H63D are determinants of iron parameters in the elderly and will be effective in detecting individuals at high risk of hemochromatosis.0.362003HFE626090951CG
rs1799945150423173077HFEumls:C0018995BeFreeFrequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands.0.362005HFE626090951CG
rs1799945100249153077HFEumls:C0018995BeFreeTwo siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although the brother harboured a single copy of the 187C-->G (H63D) allele, segregation analysis showed that in neither sibling was the iron-storage disease linked to MHC Class I markers on chromosome 6p.0.361998HFE626090951CG
rs1799945125089663077HFEumls:C0018995BeFreeClinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis.0.362002HFE626090951CG
rs179994524081379348APOEumls:C0018995BeFreeFactors included: apolipoprotein E (ApoE) gene variants (the E4 allele is the strongest confirmed genetic predisposing factor for Alzheimer's disease), the hemochromatosis-HFE gene mutations (H63D and C282Y), diabetes, and stroke.0.0029957922014HFE626090951CG
rs1799945195545413077HFEumls:C0018995BeFreeHFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.0.362009HFE626090951CG
rs1799945240541783077HFEumls:C0018995BeFreeHFE C282Y homozygotes and compound heterozygotes (C282Y/H63D) are at risk of developing manifestations of hemochromatosis.0.362013HFE626090951CG
rs1799945115799433077HFEumls:C0018995BeFreeOur results suggested that neither C282Y nor H63D in HFE affect Japanese patients with hemochromatosis or chronic hepatitis C.0.362001HFE626090951CG
rs1799945115680903077HFEumls:C0018995BeFreeWe then examined transferrin and ferritin concentrations relative to these centiles in 81 individuals homozygous for the major hemochromatosis mutation C282Y and 438 individuals with the compound heterozygous HFE genotype C282Y/H63D.0.362001HFE626090951CG
rs1799945118864253077HFEumls:C0018995BeFreeTo test whether genetic haemochromatosis is associated with myocardial infarction, we determined the prevalence of three mutations in the HFE gene (Cys282Tyr, His63Asp and Ser65Cys) in a 2 : 1 case-control study including 177 patients who survived an acute myocardial infarction and 89 controls.0.362002HFE626090951CG
rs1799945263653383077HFEumls:C0018995BeFreePenetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.0.362015HFE626090951CG
rs1799945170675863077HFEumls:C0018995BeFreeThe aim of this study was to find out whether C282Y and H63D mutations in the hemochromatosis (HFE) gene are associated with male infertility and whether the prevalence of the HFE mutations is higher in a group of 262 infertile men in comparison to 200 fertile men.0.362006HFE626090951CG
rs1799945121522433077HFEumls:C0018995BeFreeNoniatrogenic haemochromatosis in congenital dyserythropoietic anaemia type II is not related to C282Y and H63D mutations in the HFE gene: report on two brothers.0.362002HFE626090951CG
rs1799945220482703077HFEumls:C0018995BeFreeHaemochromatosis HFE gene polymorphisms (p.H63D and p.C282Y) have shown significant association with several neurological diseases.0.362011HFE626090951CG
rs1799945216791293077HFEumls:C0018995BeFreeGenotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument.0.362011HFE626090951CG
rs1799945213460983077HFEumls:C0018995BeFreeThe H63D HFE variant appears less frequently associated with hemochromatosis, but its role in the neurodegenerative diseases has received more attention.0.362011HFE626090951CG
rs1799945167552363077HFEumls:C0018995BeFreePrimary osteoarthritis in the ankle joint is associated with finger metacarpophalangeal osteoarthritis and the H63D mutation in the HFE gene: evidence for a hemochromatosis-like polyarticular osteoarthritis phenotype.0.362006HFE626090951CG
rs1799945179193543077HFEumls:C0018995BeFreeShe was heterozygous for the common H63D mutation of the hemochromatosis-associated HFE gene.0.362007HFE626090951CG
rs179994595105593077HFEumls:C0018995BeFreeMajor histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis.0.361998HFE626090951CG
rs1799945252933522950GSTP1umls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.0002714422015HFE626090951CG
rs1799945189253113077HFEumls:C0018995BeFreeThe recipient did not carry either the C282Y or the H63D mutation of the HFE gene for hemochromatosis.0.362008HFE626090951CG
rs1799945114235003077HFEumls:C0018995BeFreeRole of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.0.362001HFE626090951CG
rs1799945252933526647SOD1umls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.0005428842015HFE626090951CG
rs1799945213899803077HFEumls:C0018995BeFreeHigher brain iron levels are associated with male gender and presence of highly prevalent allelic variants in genes encoding for iron metabolism proteins (hemochromatosis H63D (HFE H63D) and transferrin C2 (TfC2)).0.362011HFE626090951CG
rs1799945116769833077HFEumls:C0018995BeFreeWe used the LightCycler technology for simultaneous detection of the H63D and C282Y mutations of the HFE gene in patients with a higher prevalence for hemochromatosis.0.362001HFE626090951CG
rs1799945116015573077HFEumls:C0018995BeFreeBiochemical testing returned high levels of iron and percentage transferrin saturation, and genetic testing for hemochromatosis was remarkable for a heterozygous H63D mutation in the HFE gene on chromosome 6.0.362001HFE626090951CG
rs179994521495455148738HFE2umls:C0018995BeFreeAmong 549 patients we found 10 to have the phenotype of hemochromatosis and 3 out of the 10 were found to carry mutations: two in the HFE gene (one homozygous C282Y and one compound heterozygous C282Y/H63D) and one in the hemojuvelin (HJV) gene (a G320V).0.1701516972010HFE626090951CG
rs1799945214954553077HFEumls:C0018995BeFreeAmong 549 patients we found 10 to have the phenotype of hemochromatosis and 3 out of the 10 were found to carry mutations: two in the HFE gene (one homozygous C282Y and one compound heterozygous C282Y/H63D) and one in the hemojuvelin (HJV) gene (a G320V).0.362010HFE626090951CG
rs1799945185214563077HFEumls:C0018995BeFreeTo assess the frequency of 2 different forms of hemochromatosis HFE gene mutations (C282Y and H63D mutations) in a normal population in comparison with type 2 diabetic patients.0.362008HFE626090951CG
rs179994594622203077HFEumls:C0018995BeFreeTo determine the prevalence of the haemochromatosis associated HFE mutations C282Y and H63D in United Kingdom affected and control populations.0.361997HFE626090951CG
rs1799945174287023077HFEumls:C0018995BeFreeLiver is the primary target organ of Hereditary Hemochromatosis Type I, with the HFE mutations C282Y and H63D recognized as markers of this iron-overload disease.0.362007HFE626090951CG
rs1799945228833883077HFEumls:C0018995BeFreeFive SNPs in 4 genes were assessed: hemochromatosis (HFE: C282Y, H63D), ferroportin (FPN1: -8CG), hepcidin (HEPC: -582AG), and transferrin (TF: P570S).0.362012HFE626090951CG
rs1799945252933523077HFEumls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.362015HFE626090951CG
rs1799945235128443077HFEumls:C0018995BeFreeWe analyzed data from the Hemochromatosis and Iron Overload Screening Study to assess the relationship among HFE genotype (individuals with either homozygous or compound heterozygous status for C282Y and/or H63D HFE mutations were defined as genotype positive, or G+), elevated iron phenotype (individuals exceeding gender-specific transferrin saturation and serum ferritin threshold levels were considered phenotype positive, or P+), and leukocyte telomere length, a marker of biological aging and cumulative oxidative stress.0.362013HFE626090951CG
rs1799945206692313077HFEumls:C0018995BeFreeTwo frequent mutations in the HFE gene, H63D and C282Y, are associated with hemochromatosis type I, an inherited iron overload disease and, possibly, with cancer.0.362011HFE626090951CG
rs1799945199312643077HFEumls:C0018995BeFreeMutations in the hemochromatosis gene (HFE) (C282Y and H63D) lead to parenchymal iron accumulation, hemochromatosis, and liver damage.0.362010HFE626090951CG
rs1799945192141083077HFEumls:C0018995BeFreeIn conclusion, clinical suspicion of hemochromatosis and elevated serum iron parameters should prompt HFE genotyping for C282Y and H63D.0.362009HFE626090951CG
rs1799945252933523483IGFALSumls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.0005428842015HFE626090951CG
rs1799945158710183077HFEumls:C0018995BeFreeAlthough the higher allele frequency of the H63D mutation in Turkish HH patients than in the general population implies a role of the H63D mutation in iron overload, there is a strong possibility that Turkish HH patients have non-HFE hemochromatosis.0.362005HFE626090951CG
rs17999452529335227306HPGDSumls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.0002714422015HFE626090951CG
rs1800562128504933077HFEumls:C0018995BeFreeCommon variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y.0.362003HFE626092913GA
rs1800562117839427037TFRCumls:C0018995BeFreeWe have examined transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin for mutations that might modulate the iron burden of individuals harboring the common mutant hemochromatosis HFE genotype C282Y/C282Y or cause hemochromatosis independent of mutations in the HFE gene.0.0182500762001HFE626092913GA
rs1800562164768693077HFEumls:C0018995BeFreeHemochromatosis in white subjects is mostly due to homozygosity for the common C282Y substitution in HFE.0.362006HFE626092913GA
rs1800562150149783077HFEumls:C0018995BeFreeDirect comparison of the telomerically extended portion of the MS susceptibility haplotype in HFE-Cys282Tyr (C282Y)-homozygous haemochromatosis patients identified a common ancestry for this genomic segment, which translated into an increased frequency of the C282Y allele in 489 MS cases from Tasmania and Victoria (10.2%) compared with controls (6.7%).0.362004HFE626092913GA
rs1800562217365623077HFEumls:C0018995BeFreeSimultaneous detection of HFE C282Y, H63D and S65C mutations associated with type 1 haemochromatosis using a multiplex luminex bead assay.0.362011HFE626092913GA
rs1800562104230723077HFEumls:C0018995BeFreeHigh prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression.0.361999HFE626092913GA
rs1800562170675863077HFEumls:C0018995BeFreeThe aim of this study was to find out whether C282Y and H63D mutations in the hemochromatosis (HFE) gene are associated with male infertility and whether the prevalence of the HFE mutations is higher in a group of 262 infertile men in comparison to 200 fertile men.0.362006HFE626092913GA
rs1800562214954553077HFEumls:C0018995BeFreeAmong 549 patients we found 10 to have the phenotype of hemochromatosis and 3 out of the 10 were found to carry mutations: two in the HFE gene (one homozygous C282Y and one compound heterozygous C282Y/H63D) and one in the hemojuvelin (HJV) gene (a G320V).0.362010HFE626092913GA
rs1800562100249153077HFEumls:C0018995BeFreeTwo siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although the brother harboured a single copy of the 187C-->G (H63D) allele, segregation analysis showed that in neither sibling was the iron-storage disease linked to MHC Class I markers on chromosome 6p.0.361998HFE626092913GA
rs1800562198929369843HEPHumls:C0018995BeFreeDuodenal biopsy samples were analyzed using real-time PCR for expression of DMT1, FPN1, DCYTB, and HEPH relative to GAPDH from 23 C282Y homozygotes, including 5 nonexpressors (serum ferritin < upper limit of normal and absence of phenotypic features of hemochromatosis) and 18 expressors. Four subjects of wild type for HFE mutations without iron overload or liver disease served as controls.0.0008143262010HFE626092913GA
rs1800562167625693077HFEumls:C0018995BeFreeThe CD8+ T-lymphocyte profile as a modifier of iron overload in HFE hemochromatosis: an update of clinical and immunological data from 70 C282Y homozygous subjects.0.362006HFE626092913GA
rs1800562198929363077HFEumls:C0018995BeFreeDuodenal biopsy samples were analyzed using real-time PCR for expression of DMT1, FPN1, DCYTB, and HEPH relative to GAPDH from 23 C282Y homozygotes, including 5 nonexpressors (serum ferritin < upper limit of normal and absence of phenotypic features of hemochromatosis) and 18 expressors. Four subjects of wild type for HFE mutations without iron overload or liver disease served as controls.0.362010HFE626092913GA
rs1800562239905223105HLA-Aumls:C0018995BeFreeRESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis probands with HFE C282Y homozygosity: age; sex; BMI; diabetes reports in first-degree family members (dichotomous); heavy ethanol consumption; cigarette smoking; elevated serum alanine aminotransferase/aspartate aminotransferase levels; nonalcoholic fatty liver; chronic viral hepatitis; cirrhosis; hand arthropathy; iron removed by phlebotomy; and positivity for HLA-A*01, B*08; A*03, B*07; and A*03, B*14 haplotypes.0.0312806242015HFE626092913GA
rs1800562216791293077HFEumls:C0018995BeFreeGenotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument.0.362011HFE626092913GA
rs1800562230982413077HFEumls:C0018995BeFreeHemochromatosis is a common disorder of iron overload most commonly due to homozogosity for the HFE C282Y substitution.0.362013HFE626092913GA
rs1800562146143953077HFEumls:C0018995BeFreeThe purpose of this study was to estimate analytic sensitivity and specificity of HFE testing for C282Y homozygosity in the hypothetical setting of population screening for hemochromatosis.0.362003HFE626092913GA
rs1800562220482703077HFEumls:C0018995BeFreeHaemochromatosis HFE gene polymorphisms (p.H63D and p.C282Y) have shown significant association with several neurological diseases.0.362011HFE626092913GA
rs1800562151201713077HFEumls:C0018995BeFreeTwenty-four male patients (mean age 47.2 +/- 12 years) homozygous for the C282Y mutation in the hemochromatosis associated HFE gene and twenty-four male healthy volunteers (mean age 47 +/- 11 years) as age-matched controls were included in this study.0.362004HFE626092913GA
rs1800562221836423077HFEumls:C0018995BeFreeHemochromatosis is considered by many to be an uncommon disorder, although the prevalence of HFE (High Iron) 282 Cys → Tyr (C282Y) homozygosity is relatively high in Caucasians.0.362012HFE626092913GA
rs1800562115680903077HFEumls:C0018995BeFreeWe then examined transferrin and ferritin concentrations relative to these centiles in 81 individuals homozygous for the major hemochromatosis mutation C282Y and 438 individuals with the compound heterozygous HFE genotype C282Y/H63D.0.362001HFE626092913GA
rs1800562165334073077HFEumls:C0018995BeFreeEffect of Native American ancestry on iron-related phenotypes of Alabama hemochromatosis probands with HFE C282Y homozygosity.0.362006HFE626092913GA
rs180056294622203077HFEumls:C0018995BeFreeTo determine the prevalence of the haemochromatosis associated HFE mutations C282Y and H63D in United Kingdom affected and control populations.0.361997HFE626092913GA
rs1800562201170273077HFEumls:C0018995BeFreeHeterozygosity for p.Cys282YTyr is not ordinarily associated with a hemochromatosis phenotype, unless associated in the compound heterozygous state with other HFE mutations.0.362010HFE626092913GA
rs1800562198929362597GAPDHumls:C0018995BeFreeDuodenal biopsy samples were analyzed using real-time PCR for expression of DMT1, FPN1, DCYTB, and HEPH relative to GAPDH from 23 C282Y homozygotes, including 5 nonexpressors (serum ferritin < upper limit of normal and absence of phenotypic features of hemochromatosis) and 18 expressors. Four subjects of wild type for HFE mutations without iron overload or liver disease served as controls.0.0002714422010HFE626092913GA
rs1800562105200443077HFEumls:C0018995BeFreeFactor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease?0.361999HFE626092913GA
rs1800562154860693077HFEumls:C0018995BeFreePatients with C282Y HFE hemochromatosis also have inappropriately low hepcidin levels for the degree of iron loading.0.362005HFE626092913GA
rs1800562195545413077HFEumls:C0018995BeFreeHFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.0.362009HFE626092913GA
rs1800562128469043240HPumls:C0018995BeFreeHaptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: phenotype and genotype analysis.0.1205428842003HFE626092913GA
rs1800562178749813077HFEumls:C0018995BeFreeReasons prompting requests for HFE genotype testing and compliance with accepted clinical indications (biochemical evidence of iron overload on repeated samples, or a first-degree relative with either haemochromatosis or a C282Y mutation).0.362007HFE626092913GA
rs1800562119010603077HFEumls:C0018995BeFreeWe determined serum ferritin, as a biochemical estimate of iron stores, and the C282Y mutation in the HFE gene, i.e., the main cause of hemochromatosis in Caucasians.0.362002HFE626092913GA
rs1800562104913703077HFEumls:C0018995BeFreeBackground-Homozygosity for a relatively common Cys282Tyr mutation of the human hemochromatosis-associated (HFE) gene was recently found to account for most cases of hereditary hemochromatosis.0.361999HFE626092913GA
rs1800562199312643077HFEumls:C0018995BeFreeMutations in the hemochromatosis gene (HFE) (C282Y and H63D) lead to parenchymal iron accumulation, hemochromatosis, and liver damage.0.362010HFE626092913GA
rs1800562116769833077HFEumls:C0018995BeFreeWe used the LightCycler technology for simultaneous detection of the H63D and C282Y mutations of the HFE gene in patients with a higher prevalence for hemochromatosis.0.362001HFE626092913GA
rs1800562152902373077HFEumls:C0018995BeFreeThe origin and spread of the HFE-C282Y haemochromatosis mutation.0.362004HFE626092913GA
rs1800562256056153077HFEumls:C0018995BeFreeTo identify polymorphisms associated with variability of iron overload severity in HFE-associated hemochromatosis, we performed exome sequencing of DNA from 35 male HFE C282Y homozygotes with either markedly increased iron stores (n = 22; cases) or with normal or mildly increased iron stores (n = 13; controls).0.362015HFE626092913GA
rs1800562219470863077HFEumls:C0018995BeFreeThe screening of Lithuanian blood donors has detected 13 (1.3%) subjects with a genotype C282Y/C282Y or C282Y/H63D responsible for the development of HFE-hemochromatosis.0.362012HFE626092913GA
rs180056293829623077HFEumls:C0018995BeFreePredominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis.0.361997HFE626092913GA
rs1800562212280383077HFEumls:C0018995BeFreeHeterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype.0.362011HFE626092913GA
rs1800562118872103077HFEumls:C0018995BeFreeAnalysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.0.362002HFE626092913GA
rs1800562121522433077HFEumls:C0018995BeFreeNoniatrogenic haemochromatosis in congenital dyserythropoietic anaemia type II is not related to C282Y and H63D mutations in the HFE gene: report on two brothers.0.362002HFE626092913GA
rs1800562189253113077HFEumls:C0018995BeFreeThe recipient did not carry either the C282Y or the H63D mutation of the HFE gene for hemochromatosis.0.362008HFE626092913GA
rs1800562240541783077HFEumls:C0018995BeFreeHFE C282Y homozygotes and compound heterozygotes (C282Y/H63D) are at risk of developing manifestations of hemochromatosis.0.362013HFE626092913GA
rs1800562117839423077HFEumls:C0018995BeFreeWe have examined transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin for mutations that might modulate the iron burden of individuals harboring the common mutant hemochromatosis HFE genotype C282Y/C282Y or cause hemochromatosis independent of mutations in the HFE gene.0.362001HFE626092913GA
rs1800562218227373077HFEumls:C0018995BeFreeThe frequency of PIL, and the HFE gene mutaion (C282Y) are both rare in Indian patients and explain why hemochromatosis is a rare cause of liver cirrhosis in India.0.362011HFE626092913GA
rs1800562151473843077HFEumls:C0018995BeFreeMore than 80% of hemochromatosis probands of Northern European descent are homozygous for the C282Y HFE gene mutation.0.362004HFE626092913GA
rs1800562170984543077HFEumls:C0018995BeFreeUntreated C282Y homozygous HH patients (n=20) with elevated serum ferritin (SF) and patients with physiological iron overload (n=12) with positive hepatocellular iron staining and negative HFE mutation analysis were evaluated.0.362007HFE626092913GA
rs1800562174830723077HFEumls:C0018995BeFreeIdentification of heterozygosity for the HFE gene mutation C282Y/H63D confirmed the diagnosis of hemochromatosis type 1.0.362007HFE626092913GA
rs1800562164196113077HFEumls:C0018995BeFreeTwo sites of point mutations in the HFE gene, C282Y and H63D, are associated with more than 80% of haemochromatosis cases.0.362005HFE626092913GA
rs18005621178394257817HAMPumls:C0018995BeFreeWe have examined transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin for mutations that might modulate the iron burden of individuals harboring the common mutant hemochromatosis HFE genotype C282Y/C282Y or cause hemochromatosis independent of mutations in the HFE gene.0.1674635662001HFE626092913GA
rs1800562239533973077HFEumls:C0018995BeFreePhenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies.0.362013HFE626092913GA
rs1800562228833883077HFEumls:C0018995BeFreeFive SNPs in 4 genes were assessed: hemochromatosis (HFE: C282Y, H63D), ferroportin (FPN1: -8CG), hepcidin (HEPC: -582AG), and transferrin (TF: P570S).0.362012HFE626092913GA
rs1800562253113143077HFEumls:C0018995BeFreeThe risk of hemochromatosis-related morbidity for HFE simple heterozygosity for either the C282Y or H63D substitutions in the HFE protein was assessed using a prospective community-based cohort study.0.362014HFE626092913GA
rs1800562254955623077HFEumls:C0018995BeFreeNon-invasive assessment of liver fibrosis in C282Y homozygous HFE hemochromatosis.0.362014HFE626092913GA
rs1800562113860223077HFEumls:C0018995BeFreeThe most frequent mutation causing hemochromatosis is C282Y in the HFE gene, the highest frequency of which has been observed in populations of Celtic origin.0.362001HFE626092913GA
rs1800562263653383077HFEumls:C0018995BeFreePenetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.0.362015HFE626092913GA
rs1800562234685522638GCumls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013HFE626092913GA
rs18005629723005567B2Mumls:C0018995BeFreeThe first important step toward establishing the role of HFE in the pathogenesis of HC came with the recent observation that the C282Y mutation disrupts the binding of beta 2-microglobulin to the HFE protein and as a result the mutant molecule is not expressed on the cell surface.0.0005428841998HFE626092913GA
rs1800562180795643077HFEumls:C0018995BeFreeHFE-related hereditary haemochromatosis (HH) is an iron overload disease attributed to the highly prevalent homozygosity for the C282Y mutation in the HFE gene.0.362007HFE626092913GA
rs1800562235128443077HFEumls:C0018995BeFreeWe analyzed data from the Hemochromatosis and Iron Overload Screening Study to assess the relationship among HFE genotype (individuals with either homozygous or compound heterozygous status for C282Y and/or H63D HFE mutations were defined as genotype positive, or G+), elevated iron phenotype (individuals exceeding gender-specific transferrin saturation and serum ferritin threshold levels were considered phenotype positive, or P+), and leukocyte telomere length, a marker of biological aging and cumulative oxidative stress.0.362013HFE626092913GA
rs1800562111993713077HFEumls:C0018995BeFreeThe clinical expression of hemochromatosis in Oslo, Norway. Excessive oral iron intake may lead to secondary hemochromatosis even in HFE C282Y mutation negative subjects.0.362000HFE626092913GA
rs180056294259353077HFEumls:C0018995BeFreeOur data do not confirm an association of PCT with the Cys282Tyr HFE mutation, strongly associated with hemochromatosis in Northern European countries.0.361998HFE626092913GA
rs1800562185859643077HFEumls:C0018995BeFreeThere was 100% concordance of HFE genotype C282Y/C282Y in 6 probands and 8 of their siblings who reported having hemochromatosis or iron overload.0.362008HFE626092913GA
rs1800562103488243077HFEumls:C0018995BeFreeIVS3 + 1G --> T in the compound heterozygous state with C282Y results in iron overload that can progress to a severe phenotype of classical hemochromatosis.0.361999HFE626092913GA
rs1800562208637247036TFR2umls:C0018995BeFreeHuman hemochromatosis (HC) has been associated with the common C282Y polymorphism of HFE or rare pathogenic mutations of TfR2, HJV, FPN and HAMP.0.145860382010HFE626092913GA
rs1800562115799433077HFEumls:C0018995BeFreeOur results suggested that neither C282Y nor H63D in HFE affect Japanese patients with hemochromatosis or chronic hepatitis C.0.362001HFE626092913GA
rs1800562109809233077HFEumls:C0018995BeFreeAlthough liver biopsy has been the standard diagnostic test for hemochromatosis, a new genetic blood test for a missense mutation (C282Y) of the HFE gene on chromosome 6 now provides a powerful noninvasive method of diagnosis.0.361999HFE626092913GA
rs1800562207227013077HFEumls:C0018995BeFreeIn hemochromatosis probands with HFE C282Y/C282Y, survival was longer in those with HLA-A*03, B*14.0.362010HFE626092913GA
rs1800562156076983077HFEumls:C0018995BeFreeHLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload.0.362005HFE626092913GA
rs1800562163440623077HFEumls:C0018995BeFreeWe studied 214 patients with hemochromatosis who were homozygous for the C282Y substitution in HFE and had undergone liver biopsy prior to phlebotomy.0.362005HFE626092913GA
rs1800562185214563077HFEumls:C0018995BeFreeTo assess the frequency of 2 different forms of hemochromatosis HFE gene mutations (C282Y and H63D mutations) in a normal population in comparison with type 2 diabetic patients.0.362008HFE626092913GA
rs1800562181578337037TFRCumls:C0018995BeFreeAn 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 1.0.0182500762008HFE626092913GA
rs1800562167047633077HFEumls:C0018995BeFreeClinical expression of C282Y homozygous HFE haemochromatosis at 14 years of age.0.362006HFE626092913GA
rs1800562178524573077HFEumls:C0018995BeFreeThe patient was heterozygous for HFE gene C282Y mutation (type I hemochromatosis).0.362007HFE626092913GA
rs1800562154479003077HFEumls:C0018995BeFreeIron absorption by heterozygous carriers of the HFE C282Y mutation associated with hemochromatosis.0.362004HFE626092913GA
rs1800562234685522524FUT2umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013HFE626092913GA
rs1800562125089663077HFEumls:C0018995BeFreeClinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis.0.362002HFE626092913GA
rs180056296095373077HFEumls:C0018995BeFreeHigh frequencies of the haemochromatosis-related HFE C282Y mutation have been reported in North European populations, in which a high proportion of patients with the disease are homozygotes.0.361998HFE626092913GA
rs1800562185577453077HFEumls:C0018995BeFreeSerum hepcidin levels are innately low in HFE-related haemochromatosis but differ between C282Y-homozygotes with elevated and normal ferritin levels.0.362008HFE626092913GA
rs1800562252933522950GSTP1umls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.0002714422015HFE626092913GA
rs180056225352340406ARNTLumls:C0018995BeFreeSNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis.0.0002714422014HFE626092913GA
rs180056294534923077HFEumls:C0018995BeFreeThe aim of this study was to reassess the phenotypic diagnostic criteria for hemochromatosis in patients homozygous for the C282Y mutation of the HFE gene.0.361998HFE626092913GA
rs1800562114235003077HFEumls:C0018995BeFreeRole of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.0.362001HFE626092913GA
rs1800562239905223077HFEumls:C0018995BeFreeDiabetes in first-degree family members: a predictor of type 2 diabetes in 159 nonscreening Alabama hemochromatosis probands with HFE C282Y homozygosity.0.362015HFE626092913GA
rs1800562157496613077HFEumls:C0018995BeFreeThe low prevalence of the C282Y mutation of the HFE gene in Japan means that the genetic background of hemochromatosis in Japanese patients remains unclear.0.362005HFE626092913GA
rs180056298640393077HFEumls:C0018995BeFreeHigh incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population--implications for haemochromatosis.0.361998HFE626092913GA
rs1800562118872103105HLA-Aumls:C0018995BeFreeAnalysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.0.0312806242002HFE626092913GA
rs1800562156036613077HFEumls:C0018995BeFreeIron absorption is decreased in some patients with hemochromatosis and HFE C282Y homozygosity after bariatric surgery, but their risk of developing iron deficiency may be diminished.0.362004HFE626092913GA
rs1800562178863353077HFEumls:C0018995BeFreeThe term hemochromatosis should refer to a unique clinicopathologic subset of iron-overload syndromes that currently includes the disorder related to the C282Y homozygote mutation of the hemochromatosis protein HFE (by far the most common form of hemochromatosis) and the rare disorders more recently attributed to the loss of transferrin receptor 2, HAMP (hepcidin antimicrobial peptide), or hemojuvelin or to certain ferroportin mutations.0.362007HFE626092913GA
rs1800562107563573077HFEumls:C0018995BeFreeHFE is a class-I MHC related protein which carries the C282Y mutation in most patients with hereditary hemochromatosis, an iron overload disease.0.362000HFE626092913GA
rs1800562253523407036TFR2umls:C0018995BeFreeSNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis.0.145860382014HFE626092913GA
rs180056219214511148738HFE2umls:C0018995BeFreeMutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.0.1701516972009HFE626092913GA
rs1800562146752483077HFEumls:C0018995BeFreeAbsence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatosis phenotype in nonalcoholic chronic liver disease patients in India.0.362004HFE626092913GA
rs1800562186518283077HFEumls:C0018995BeFreeThyroid-stimulating hormone and free thyroxine levels in persons with HFE C282Y homozygosity, a common hemochromatosis genotype: the HEIRS study.0.362008HFE626092913GA
rs1800562120913673077HFEumls:C0018995BeFreeThe clinical features of HFE-related hemochromatosis were absent, as were the Cys282Tyr and His63Asp mutations.0.362002HFE626092913GA
rs1800562186658273077HFEumls:C0018995BeFreeSerial serum ferritin measurements in untreated HFE C282Y homozygotes in the Hemochromatosis and Iron Overload Screening Study.0.362008HFE626092913GA
rs1800562161399173077HFEumls:C0018995BeFreeIn HFE-related haemochromatosis, a large proportion of C282Y homozygotes, especially women, are not detected by phenotypic screening using transferrin saturation.0.362005HFE626092913GA
rs1800562100249153133HLA-Eumls:C0018995BeFreeTwo siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although the brother harboured a single copy of the 187C-->G (H63D) allele, segregation analysis showed that in neither sibling was the iron-storage disease linked to MHC Class I markers on chromosome 6p.0.0024429771998HFE626092913GA
rs1800562116862233077HFEumls:C0018995BeFreeThe aims of this study were: 1) To determine the prevalence of the hemochromatosis associated mutations C282Y and H63D of the HFE gene in patients from Southern Germany with hemochromatosis phenotype; and 2) to test two new, time- and cost-saving methods: automated SSCP-based capillary electrophoresis (SSCP-CE) and a PCR-ELISA technique for the analysis of HFE mutations.0.362001HFE626092913GA
rs180056224081379348APOEumls:C0018995BeFreeFactors included: apolipoprotein E (ApoE) gene variants (the E4 allele is the strongest confirmed genetic predisposing factor for Alzheimer's disease), the hemochromatosis-HFE gene mutations (H63D and C282Y), diabetes, and stroke.0.0029957922014HFE626092913GA
rs1800562210829253077HFEumls:C0018995BeFreeClinical penetrance of C282Y homozygous HFE hemochromatosis.0.362008HFE626092913GA
rs1800562192141083077HFEumls:C0018995BeFreeIn conclusion, clinical suspicion of hemochromatosis and elevated serum iron parameters should prompt HFE genotyping for C282Y and H63D.0.362009HFE626092913GA
rs1800562161320523077HFEumls:C0018995BeFreeAfter the 1996 identification of the main causative gene HFE and confirmation that most patients were homozygous for the founder C282Y mutation, it became clear that some families were linked to rarer conditions, first named 'non-HFE haemochromatosis'.0.362005HFE626092913GA
rs1800562113132653077HFEumls:C0018995BeFreeThe impact of HFE on iron transport was examined in B-lymphoid cell lines developed from a patient with hemochromatosis with the HFE C282Y mutation (C282Y cells) and an individual with the wild-type HFE gene (WT cells).0.362001HFE626092913GA
rs180056223468552164656TMPRSS6umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0008143262013HFE626092913GA
rs180056298518973077HFEumls:C0018995BeFreeThe C282Y mutation in the HFE gene is the main mutation causing hemochromatosis, and C282Y frequencies have been reported for various European populations.0.361998HFE626092913GA
rs1800562193802923077HFEumls:C0018995BeFreeHere we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene.0.362009HFE626092913GA
rs1800562157378853077HFEumls:C0018995BeFreeOver the last decade, the finding of a relatively high prevalence of the C282Y polymorphism of the HFE gene associated with hemochromatosis in Northern European populations suggested that the disease may be much more common than previously thought.0.362005HFE626092913GA
rs18005622346855253630BCO1umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013HFE626092913GA
rs1800562153243193077HFEumls:C0018995BeFreeA previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote.0.362004HFE626092913GA
rs1800562206692313077HFEumls:C0018995BeFreeTwo frequent mutations in the HFE gene, H63D and C282Y, are associated with hemochromatosis type I, an inherited iron overload disease and, possibly, with cancer.0.362011HFE626092913GA
rs180056297230053077HFEumls:C0018995BeFreeThe first important step toward establishing the role of HFE in the pathogenesis of HC came with the recent observation that the C282Y mutation disrupts the binding of beta 2-microglobulin to the HFE protein and as a result the mutant molecule is not expressed on the cell surface.0.361998HFE626092913GA
rs1800562109862203077HFEumls:C0018995BeFreeHFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis.0.362000HFE626092913GA
rs180056297530403077HFEumls:C0018995BeFreeTo test whether genetic haemochromatosis is associated with increased atherosclerosis, we determined the prevalence of two mutations in the HFE gene related to haemochromatosis (845G-->A; Cys282Tyr.0.361998HFE626092913GA
rs1800562109539543077HFEumls:C0018995BeFree5569G/A polymorphism of the HFE gene: no implications for C282Y genotyping in a hemochromatosis screening study of 65,238 individuals.0.362000HFE626092913GA
rs1800562179492883077HFEumls:C0018995BeFreeWe characterized HFE C282Y homozygotes aged 25-29 years in the HEmochromatosis and IRon Overload Screening (HEIRS) Study using health questionnaire responses, transferrin saturation (TfSat), serum ferritin (SF), and HFE genotyping.0.362007HFE626092913GA
rs1800562189399383077HFEumls:C0018995BeFreeThe purpose of this study was to assess the level of satisfaction and understanding of test results, by a sample of non-C282Y homozygous participants in the hemochromatosis and iron overload screening (HEIRS) study, who received serum ferritin (SF), transferrin saturation (TS), and HFE gene test results by mail.0.362008HFE626092913GA
rs1800562252933523077HFEumls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.362015HFE626092913GA
rs1800562223955703077HFEumls:C0018995BeFreeUncommon HFE mutations resulting in phenotypic hemochromatosis among C282Y heterozygotes have been identified from HFE gene sequencing.0.362012HFE626092913GA
rs1800562252933526647SOD1umls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.0005428842015HFE626092913GA
rs18005622529335227306HPGDSumls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.0002714422015HFE626092913GA
rs1800562107858723077HFEumls:C0018995BeFreeAuthors of a recent study identified a mutation in HLA-H gene, C282Y, that is an excellent marker for hemochromatosis, which is the most common cause of iron overload.0.362000HFE626092913GA
rs1800562126732763077HFEumls:C0018995BeFreeOur study shows that the HFE C282Y and H63D are determinants of iron parameters in the elderly and will be effective in detecting individuals at high risk of hemochromatosis.0.362003HFE626092913GA
rs1800562192145113077HFEumls:C0018995BeFreeMutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.0.362009HFE626092913GA
rs180056221495455148738HFE2umls:C0018995BeFreeAmong 549 patients we found 10 to have the phenotype of hemochromatosis and 3 out of the 10 were found to carry mutations: two in the HFE gene (one homozygous C282Y and one compound heterozygous C282Y/H63D) and one in the hemojuvelin (HJV) gene (a G320V).0.1701516972010HFE626092913GA
rs1800562181578333077HFEumls:C0018995BeFreeAn 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 1.0.362008HFE626092913GA
rs1800562105200442153F5umls:C0018995BeFreeFactor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease?0.0031813581999HFE626092913GA
rs180056220863724148738HFE2umls:C0018995BeFreeHuman hemochromatosis (HC) has been associated with the common C282Y polymorphism of HFE or rare pathogenic mutations of TfR2, HJV, FPN and HAMP.0.1701516972010HFE626092913GA
rs1800562174287023077HFEumls:C0018995BeFreeLiver is the primary target organ of Hereditary Hemochromatosis Type I, with the HFE mutations C282Y and H63D recognized as markers of this iron-overload disease.0.362007HFE626092913GA
rs180056297530423077HFEumls:C0018995BeFreeWe performed PCR-based analysis for the haemochromatosis-related HFE C282Y mutation in an extended family with inherited haemolytic anaemia in which several members exhibited iron overload.0.361998HFE626092913GA
rs1800562175974763077HFEumls:C0018995BeFreeDeterminants and characteristics of mean corpuscular volume and hemoglobin concentration in white HFE C282Y homozygotes in the hemochromatosis and iron overload screening study.0.362007HFE626092913GA
rs18005621921451157817HAMPumls:C0018995BeFreeMutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.0.1674635662009HFE626092913GA
rs1800562109539483077HFEumls:C0018995BeFreeOver 90% of patients with hemochromatosis in the United Kingdom are homozygous for the C282Y mutation on the HFE gene.0.362000HFE626092913GA
rs1800562200315653077HFEumls:C0018995BeFreeHFE C282Y homozygosity is associated with lower total and low-density lipoprotein cholesterol: The hemochromatosis and iron overload screening study.0.362009HFE626092913GA
rs1800562147036883077HFEumls:C0018995BeFreeFrequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods.0.362003HFE626092913GA
rs18005621855774557817HAMPumls:C0018995BeFreeSerum hepcidin levels are innately low in HFE-related haemochromatosis but differ between C282Y-homozygotes with elevated and normal ferritin levels.0.1674635662008HFE626092913GA
rs1800562250647043077HFEumls:C0018995BeFreeHFE-related (type 1) hemochromatosis remains the most frequent form, characterized by C282Y mutation homozygosity.0.362015HFE626092913GA
rs1800562128469043077HFEumls:C0018995BeFreeHaptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: phenotype and genotype analysis.0.362003HFE626092913GA
rs1800562125682993077HFEumls:C0018995BeFreeFrom a literature survey, the calculated hemochromatosis allele frequencies from 16 studies using phenotypic biochemical markers (threshold levels for transferrin saturation [range, 46%-70%] and serum ferritin [range, 164-700 microg/L]) were compared with allele frequencies of the Cys282Tyr mutation of the hemochromatosis gene reported in 19 genotypic studies.0.362003HFE626092913GA
rs1800562107563573133HLA-Eumls:C0018995BeFreeHFE is a class-I MHC related protein which carries the C282Y mutation in most patients with hereditary hemochromatosis, an iron overload disease.0.0024429772000HFE626092913GA
rs1800562253523403077HFEumls:C0018995BeFreeSNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis.0.362014HFE626092913GA
rs1800562150423173077HFEumls:C0018995BeFreeFrequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands.0.362005HFE626092913GA
rs1800562129572973077HFEumls:C0018995BeFreeIn the third study (2002), 371 C282Y-homozygous relatives of patients with HFE-associated hemochromatosis were assessed.0.362003HFE626092913GA
rs1800562118864253077HFEumls:C0018995BeFreeTo test whether genetic haemochromatosis is associated with myocardial infarction, we determined the prevalence of three mutations in the HFE gene (Cys282Tyr, His63Asp and Ser65Cys) in a 2 : 1 case-control study including 177 patients who survived an acute myocardial infarction and 89 controls.0.362002HFE626092913GA
rs1800562252933523483IGFALSumls:C0018995BeFreeOur objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.0.0005428842015HFE626092913GA
rs1800562178863357036TFR2umls:C0018995BeFreeThe term hemochromatosis should refer to a unique clinicopathologic subset of iron-overload syndromes that currently includes the disorder related to the C282Y homozygote mutation of the hemochromatosis protein HFE (by far the most common form of hemochromatosis) and the rare disorders more recently attributed to the loss of transferrin receptor 2, HAMP (hepcidin antimicrobial peptide), or hemojuvelin or to certain ferroportin mutations.0.145860382007HFE626092913GA
rs1800730217365623077HFEumls:C0018995BeFreeSimultaneous detection of HFE C282Y, H63D and S65C mutations associated with type 1 haemochromatosis using a multiplex luminex bead assay.0.362011HFE626090957AT
rs1800730118864253077HFEumls:C0018995BeFreeTo test whether genetic haemochromatosis is associated with myocardial infarction, we determined the prevalence of three mutations in the HFE gene (Cys282Tyr, His63Asp and Ser65Cys) in a 2 : 1 case-control study including 177 patients who survived an acute myocardial infarction and 89 controls.0.362002HFE626090957AT
rs1800730155386483077HFEumls:C0018995BeFreeA third HFE mutation, S65C, has been associated with the development of a mild form of hemochromatosis.0.362004HFE626090957AT
rs1800730105755403077HFEumls:C0018995BeFreeTwo novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.0.361999HFE626090957AT
rs1800730106604833077HFEumls:C0018995BeFreeThe results do not support the use of DNA genotyping for the HFE S65C mutation in population screening studies for hemochromatosis.0.361999HFE626090957AT
rs1800730101944283077HFEumls:C0018995BeFreeHFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.0.361999HFE626090957AT
rs1800730150423173077HFEumls:C0018995BeFreeFrequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands.0.362005HFE626090957AT
rs1800730123778143077HFEumls:C0018995BeFreeThe HFE S65C mutation may lead to mild to moderate hepatic iron overload but neither clinically manifest haemochromatosis nor iron associated extensive liver fibrosis was encountered in any of the patients carrying this mutation.0.362002HFE626090957AT
rs199474387118872103077HFEumls:C0018995BeFreeAnalysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.0.362002NANANANANA
rs199474387118872103105HLA-Aumls:C0018995BeFreeAnalysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.0.0312806242002NANANANANA
rs2282679234685522638GCumls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013GC471742666TG
rs22826792346855253630BCO1umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013GC471742666TG
rs228267923468552164656TMPRSS6umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0008143262013GC471742666TG
rs2282679234685522524FUT2umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013GC471742666TG
rs2858996211458033077HFEumls:C0018995BeFreeTwo markers (rs2858996 and rs707889) in the HFE gene, which are not yet known to be associated with hemochromatosis, showed evidence for replication.0.362011HFE626093798GA,T
rs28934596105755403077HFEumls:C0018995BeFreeTwo novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.0.361999HFE626091078TC
rs28934597105755403077HFEumls:C0018995BeFreeTwo novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.0.361999HFE626091041GC
rs41303501164246587036TFR2umls:C0018995BeFreeHemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R.0.145860382006TFR2;LOC1053754287100629279CT
rs4820268234685522524FUT2umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013TMPRSS62237073551GA
rs482026823468552164656TMPRSS6umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0008143262013TMPRSS62237073551GA
rs4820268234685522638GCumls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013TMPRSS62237073551GA
rs48202682346855253630BCO1umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013TMPRSS62237073551GA
rs492602234685522524FUT2umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013FUT2;LOC1054476451948703160AG
rs492602234685522638GCumls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013FUT2;LOC1054476451948703160AG
rs49260223468552164656TMPRSS6umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0008143262013FUT2;LOC1054476451948703160AG
rs4926022346855253630BCO1umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013FUT2;LOC1054476451948703160AG
rs65648512346855253630BCO1umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013NA1681230992TG
rs6564851234685522638GCumls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013NA1681230992TG
rs656485123468552164656TMPRSS6umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0008143262013NA1681230992TG
rs6564851234685522524FUT2umls:C0018995BeFreeAs part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 44 and 90 y from 6 UK cohorts were genotyped for polymorphisms associated with circulating concentrations of iron [rs4820268 transmembrane protease, serine 6 (TMPRSS6) and rs1800562 hemochromatosis (HFE)], vitamin B-12 [(rs492602 fucosyltransferase 2 (FUT2)], vitamin D ([rs2282679 group-specific component (GC)] and β-carotene ([rs6564851 beta-carotene 15,15'-monooxygenase 1 (BCMO1)].0.0002714422013NA1681230992TG
rs707889211458033077HFEumls:C0018995BeFreeTwo markers (rs2858996 and rs707889) in the HFE gene, which are not yet known to be associated with hemochromatosis, showed evidence for replication.0.362011HFE626095703GA
rs74315323214954553077HFEumls:C0018995BeFreeAmong 549 patients we found 10 to have the phenotype of hemochromatosis and 3 out of the 10 were found to carry mutations: two in the HFE gene (one homozygous C282Y and one compound heterozygous C282Y/H63D) and one in the hemojuvelin (HJV) gene (a G320V).0.362010HFE21146018399CA
rs7431532321495455148738HFE2umls:C0018995BeFreeAmong 549 patients we found 10 to have the phenotype of hemochromatosis and 3 out of the 10 were found to carry mutations: two in the HFE gene (one homozygous C282Y and one compound heterozygous C282Y/H63D) and one in the hemojuvelin (HJV) gene (a G320V).0.1701516972010HFE21146018399CA
rs80338880113583887036TFR2umls:C0018995BeFreeA mutation of the transferrin receptor-2 gene (TFR2; exon 6, nt 750 C --> G, replaces TAC with stop signal TAG; Y250X) on Ch7q22 was recently identified in two Sicilian families with HFE mutation-negative hemochromatosis.0.145860382001TFR2;LOC1053754287100633100GC
rs80338880113132417036TFR2umls:C0018995BeFreePatients with HFE3 have transferrin receptor 2 (TFR2) inactivated by a homozygous nonsense mutation (Y250X).0.145860382001TFR2;LOC1053754287100633100GC
rs80338880115510997036TFR2umls:C0018995BeFreeA rapid PCR-SSP assay for the hemochromatosis-associated Tyr250Stop mutation in the TFR2 gene.0.145860382001TFR2;LOC1053754287100633100GC
rs80338882164246587036TFR2umls:C0018995BeFreeHemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R.0.145860382006TFR2;LOC1053754287100630973GA
rs80338886157496617036TFR2umls:C0018995BeFreeTwo novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.0.145860382005TFR2;LOC1053754287100628228AC
rs80338891164246587036TFR2umls:C0018995BeFreeHemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R.0.145860382006TFR2;LOC1053754287100620889CT
GWASdb Annotation(Total Genotypes:6)
Chr Pos SNP_Id RefGene EnsemblGene ENCODE_Factor ENCODE_TFBS Chromosome_interaction GTEx_eQTL SNP_TFBS_affinity_GWAS3D SNP_miRNA_target_affinity_PolymiRTS SNP_splicing_effect_Skippy SNP_splicing_effect_MutPred_Splice SNP_ns_protein_effect_dbNSFP SNP_syn_effect_Silva SNP_phosphorylation_effect_PhosSNP PhastCons_score PhyloP_score GERP++_RS Segway_state Ancestral_allele ESP_AF ESP_AFR ESP_AFR ESP_EUR TG_ASN TG_AMR TG_AFR TG_EUR Type Consequence bStatistic EncH3K27Ac EncH3K4Me1 EncH3K4Me3 EncNucleo OMIM Clinvar
626088890rs2794719NM_139008,HFENM_139006,HFENM_000410,HFENM_139003,HFENM_139004,HFENM_139007,HFENM_139009,HFENM_139010,HFENM_139011,HFEENST00000353147,ENSG00000010704ENST00000317896,ENSG00000010704ENST00000397022,ENSG00000010704ENST00000349999,ENSG00000010704ENST00000352392,ENSG00000010704ENST00000357618,ENSG00000010704ENST00000483782,ENSG00000010704ENST00000470149,ENSG00000010704ENST00000336625,ENSG00000010704ENST00000486147,ENSG00000010704ENST00000488199,ENSG00000010704ENST00000461397,ENSG00000010704ENST00000309234,ENSG00000010704TFP.EBF1NAchr6,26080001,26090000,chr6,26060001,26070000,27,Hi-Cchr6,26080001,26090000,chr7,74280001,74290000,83,Hi-CNALM96,3.5623LM155,3.0595LM190,1.4048LM200,4.0544TFAP2A,1.5937NANANA
626091179rs1799945NM_139008,HFENM_139006,HFENM_000410,HFENM_139003,HFENM_139004,HFENM_139007,HFENM_139009,HFENM_139010,HFENM_139011,HFEENST00000353147,ENSG00000010704ENST00000317896,ENSG00000010704ENST00000397022,ENSG00000010704ENST00000349999,ENSG00000010704ENST00000352392,ENSG00000010704ENST00000357618,ENSG00000010704ENST00000483782,ENSG00000010704ENST00000470149,ENSG00000010704ENST00000336625,ENSG00000010704ENST00000486147,ENSG00000010704ENST00000488199,ENSG00000010704ENST00000461397,ENSG00000010704ENST00000309234,ENSG00000010704MCV-2NAchr6,26090001,26100000,chr6,26060001,26070000,29,Hi-Cchr6,26090001,26100000,chr6,26140001,26150000,41,Hi-Cchr6,26090001,26100000,chr6,26070001,26080000,43,Hi-CNALM42,1.2592LM63,1.6858LM227,3.2931TCF11-MafG,1.311NR1H2-RXRA,1.2918NANA
626091336rs2071303NM_139008,HFENM_139006,HFENM_000410,HFENM_139003,HFENM_139004,HFENM_139007,HFENM_139009,HFENM_139010,HFENM_139011,HFEENST00000353147,ENSG00000010704ENST00000317896,ENSG00000010704ENST00000397022,ENSG00000010704ENST00000349999,ENSG00000010704ENST00000352392,ENSG00000010704ENST00000357618,ENSG00000010704ENST00000483782,ENSG00000010704ENST00000470149,ENSG00000010704ENST00000336625,ENSG00000010704ENST00000486147,ENSG00000010704ENST00000488199,ENSG00000010704ENST00000461397,ENSG00000010704ENST00000309234,ENSG00000010704NANAchr6,26090001,26100000,chr6,26060001,26070000,29,Hi-Cchr6,26090001,26100000,chr6,26140001,26150000,41,Hi-Cchr6,26090001,26100000,chr6,26070001,26080000,43,Hi-CNABapx1_2343,1.5768Bas1-primary,1.2849Nrg1-primary,10.7208Pho4-primary,9.1694Pho4-primary,2.5449NAENSE00001689128,0.3578
626093141rs1800562NM_139008,HFENM_139006,HFENM_000410,HFENM_139003,HFENM_139004,HFENM_139007,HFENM_139009,HFENM_139010,HFENM_139011,HFEENST00000353147,ENSG00000010704ENST00000317896,ENSG00000010704ENST00000397022,ENSG00000010704ENST00000349999,ENSG00000010704ENST00000352392,ENSG00000010704ENST00000357618,ENSG00000010704ENST00000483782,ENSG00000010704ENST00000470149,ENSG00000010704ENST00000336625,ENSG00000010704ENST00000486147,ENSG00000010704ENST00000488199,ENSG00000010704ENST00000461397,ENSG00000010704ENST00000309234,ENSG00000010704ENST00000485729,ENSG00000010704MCV-4NAchr6,26090001,26100000,chr6,26060001,26070000,29,Hi-Cchr6,26090001,26100000,chr6,26140001,26150000,41,Hi-Cchr6,26090001,26100000,chr6,26070001,26080000,43,Hi-CNAAft1-primary,1.3851Cbf1-primary,3.3167Cbf1-primary,3.2902Gat3-primary,2.5924Pho4-primary,1.309NA
626093236rs1800758NM_139008,HFENM_139006,HFENM_000410,HFENM_139003,HFENM_139004,HFENM_139007,HFENM_139009,HFENM_139010,HFENM_139011,HFEENST00000353147,ENSG00000010704ENST00000317896,ENSG00000010704ENST00000397022,ENSG00000010704ENST00000349999,ENSG00000010704ENST00000352392,ENSG00000010704ENST00000357618,ENSG00000010704ENST00000483782,ENSG00000010704ENST00000470149,ENSG00000010704ENST00000336625,ENSG00000010704ENST00000486147,ENSG00000010704ENST00000488199,ENSG00000010704ENST00000461397,ENSG00000010704ENST00000309234,ENSG00000010704ENST00000485729,ENSG00000010704NANAchr6,26090001,26100000,chr6,26060001,26070000,29,Hi-Cchr6,26090001,26100000,chr6,26140001,26150000,41,Hi-Cchr6,26090001,26100000,chr6,26070001,26080000,43,Hi-CNABapx1_2343,7.8028Ceh-22,1.3414Mig2-primary,3.738Mig3-primary,2.5119Nkx2-4_3074,1.9937NA
626094367rs1572982NM_139008,HFENM_139006,HFENM_000410,HFENM_139003,HFENM_139004,HFENM_139007,HFENM_139009,HFENM_139010,HFENM_139011,HFEENST00000353147,ENSG00000010704ENST00000317896,ENSG00000010704ENST00000397022,ENSG00000010704ENST00000349999,ENSG00000010704ENST00000352392,ENSG00000010704ENST00000357618,ENSG00000010704ENST00000470149,ENSG00000010704ENST00000336625,ENSG00000010704ENST00000486147,ENSG00000010704ENST00000488199,ENSG00000010704ENST00000461397,ENSG00000010704ENST00000309234,ENSG00000010704ENST00000485729,ENSG00000010704NANAchr6,26090001,26100000,chr6,26060001,26070000,29,Hi-Cchr6,26090001,26100000,chr6,26140001,26150000,41,Hi-Cchr6,26090001,26100000,chr6,26070001,26080000,43,Hi-CNALM23,1.6472LM58,1.3788LM73,2.8248LM87,1.5014LM121,1.7622NANA
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 302
Disease hemochromatosis
Case(Waiting for update.)