Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Abdominal Pain | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Abdominal pain | ClinVar | PMID:10381492 more ... | Alzheimer's disease | | ISO | RGD:1345296 | 8554872 | ClinVar more ... | ClinVar | PMID:10194428 more ... | Alzheimer's disease 1 | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Alzheimer disease type 1 | ClinVar | | cardiomyopathy | | ISO | RGD:1345296 | 8554872 | ClinVar more ... | ClinVar | PMID:10381492 more ... | cardiomyopathy | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:10381492 more ... | cardiomyopathy | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:10381492 more ... | cardiomyopathy | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:10381492 more ... | cystic fibrosis | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar | PMID:11358905 more ... | cystic fibrosis | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar | PMID:11358905 more ... | diabetic angiopathy | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Microvascular complications of diabetes more ... | ClinVar | PMID:10381492 more ... | genetic disease | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10381492 more ... | hemochromatosis | | ISO | RGD:1345296 | 8554872 | ClinVar more ... | ClinVar | PMID:10194428 more ... | hemochromatosis type 1 | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Hemochromatosis type 1 | ClinVar | PMID:10194428 more ... | hemochromatosis type 2 | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Hemochromatosis type 2 | ClinVar | PMID:10381492 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar | PMID:10381492 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:10381492 more ... | Nervous System Malformations | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:10381492 more ... | neuropathy | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:10381492 more ... | Pain | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Pain | ClinVar | PMID:10381492 more ... | peripheral nervous system disease | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:10381492 more ... | porphyria | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar | PMID:10401000, PMID:25741868 | porphyria cutanea tarda | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY | ClinVar | PMID:11358905 more ... | Presenile and Senile Dementia | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Presenile and senile dementia | ClinVar | PMID:10381492 more ... | variegate porphyria | | ISO | RGD:1345296 | 8554872 | ClinVar Annotator: match by term: Variegate porphyria | ClinVar | PMID:10953950 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer. | Abraham BK, etal., Cancer Epidemiol Biomarkers Prev. 2005 May;14(5):1102-7. |
| 2. | HFE C282Y mutation as a genetic modifier influencing disease susceptibility for chronic myeloproliferative disease. | Andrikovics H, etal., Cancer Epidemiol Biomarkers Prev. 2009 Mar;18(3):929-34. doi: 10.1158/1055-9965.EPI-08-0359. Epub 2009 Mar 3. |
| 3. | Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y. | Barton JC, etal., Blood Cells Mol Dis. 2003 Jul-Aug;31(1):102-11. |
| 4. | Genotypic and phenotypic heterogeneity of African Americans with primary iron overload. | Barton JC, etal., Blood Cells Mol Dis. 2003 Nov-Dec;31(3):310-9. |
| 5. | Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders. | Beckman LE, etal., Carcinogenesis. 1999 Jul;20(7):1231-3. |
| 6. | Expanding the natural history of nonalcoholic steatohepatitis: from cryptogenic cirrhosis to hepatocellular carcinoma. | Bugianesi E, etal., Gastroenterology. 2002 Jul;123(1):134-40. |
| 7. | Association between HFE mutations and acute myocardial infarction: a study in patients from Northern and Southern Italy. | Candore G, etal., Blood Cells Mol Dis. 2003 Jul-Aug;31(1):57-62. |
| 8. | Mutation H63D in the HFE gene confers risk for the development of type 2 diabetes mellitus but not for chronic complications. | Colli ML, etal., J Diabetes Complications. 2011 Jan-Feb;25(1):25-30. doi: 10.1016/j.jdiacomp.2009.12.002. Epub 2010 Jan 25. |
| 9. | Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study. | Cribier B, etal., Dermatology. 2009;218(1):15-21. doi: 10.1159/000173696. Epub 2008 Nov 12. |
| 10. | An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemia. | Davis CF and Dorak MT, Ann Hematol. 2010 Apr;89(4):375-84. doi: 10.1007/s00277-009-0839-y. Epub 2009 Oct 6. |
| 11. | The role of TMPRSS6 and HFE variants in iron deficiency anemia in celiac disease. | De Falco L, etal., Am J Hematol. 2018 Mar;93(3):383-393. doi: 10.1002/ajh.24991. Epub 2017 Dec 18. |
| 12. | Iron-dependent regulation of MDM2 influences p53 activity and hepatic carcinogenesis. | Dongiovanni P, etal., Am J Pathol. 2010 Feb;176(2):1006-17. Epub 2009 Dec 17. |
| 13. | The C282Y mutation of HFE is another male-specific risk factor for childhood acute lymphoblastic leukemia. | Dorak MT, etal., Blood. 1999 Dec 1;94(11):3957. |
| 14. | Decreased Bone Formation Explains Osteoporosis in a Genetic Mouse Model of Hemochromatosiss. | Doyard M, etal., PLoS One. 2016 Feb 1;11(2):e0148292. doi: 10.1371/journal.pone.0148292. eCollection 2016. |
| 15. | Clinical characteristics of type 2 diabetes in patients with mutations of HFE. | Dubois-Laforgue D, etal., Diabetes Metab. 2000 Feb;26(1):65-8. |
| 16. | Beyond Human Leukocyte Antigen Class I Antigens: Hereditary Hemochromatosis Gene Mutations in Recurrent Aphthous Oral Ulcers and Behçet Disease in the South of Tunisia. | ElAoud S, etal., Med Princ Pract. 2017;26(5):427-432. doi: 10.1159/000481782. Epub 2017 Sep 26. |
| 17. | The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. | Farrell CP, etal., PLoS One. 2016 Sep 23;11(9):e0163322. doi: 10.1371/journal.pone.0163322. eCollection 2016. |
| 18. | A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. | Feder JN, etal., Nat Genet. 1996 Aug;13(4):399-408. |
| 19. | Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis. | George DK, etal., Gastroenterology. 1998 Feb;114(2):311-8. |
| 20. | Absence of iron-regulatory protein Hfe results in hyperproliferation of retinal pigment epithelium: role of cystine/glutamate exchanger. | Gnana-Prakasam JP, etal., Biochem J. 2009 Nov 11;424(2):243-52. doi: 10.1042/BJ20090424. |
| 21. | Frequency of HFE gene mutations in Iranian beta-thalassaemia minor patients. | Jazayeri M, etal., Eur J Haematol. 2003 Dec;71(6):408-11. |
| 22. | Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population. | Juzėnas S, etal., Medicina (Kaunas). 2016;52(5):269-275. doi: 10.1016/j.medici.2016.09.004. Epub 2016 Oct 3. |
| 23. | The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation. | Kallianpur AR, etal., Bone Marrow Transplant. 2005 Jun;35(12):1155-64. |
| 24. | Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer. | Kallianpur AR, etal., Cancer Epidemiol Biomarkers Prev. 2004 Feb;13(2):205-12. |
| 25. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 26. | Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancers. | Kondrashova TV, etal., Biochim Biophys Acta. 2006 Jan;1762(1):59-65. Epub 2005 Sep 23. |
| 27. | Hemochromatosis gene (HFE) polymorphisms are not associated with peripheral arterial disease. | Koppel H, etal., Thromb Haemost. 2004 Jun;91(6):1258-9. |
| 28. | Long-term sequelae of HFE deletion in C57BL/6 x 129/O1a mice, an animal model for hereditary haemochromatosis. | Lebeau A, etal., Eur J Clin Invest. 2002 Aug;32(8):603-12. |
| 29. | Transcriptome Analysis of Acute Phase Liver Graft Injury in Liver Transplantation. | Lee NP, etal., Biomedicines. 2018 Apr 6;6(2). pii: biomedicines6020041. doi: 10.3390/biomedicines6020041. |
| 30. | Impact of hemochromatosis gene mutations on cardiac status in doxorubicin-treated survivors of childhood high-risk leukemia. | Lipshultz SE, etal., Cancer. 2013 Oct 1;119(19):3555-62. doi: 10.1002/cncr.28256. Epub 2013 Jul 16. |
| 31. | Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy. | Mahon NG, etal., Heart. 2000 Nov;84(5):541-7. |
| 32. | Nonalcoholic fatty liver disease: a feature of the metabolic syndrome. | Marchesini G, etal., Diabetes. 2001 Aug;50(8):1844-50. |
| 33. | H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers. | Melis MA, etal., Haematologica. 2002 Mar;87(3):242-5. |
| 34. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
| 35. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 36. | MGD IEA | MGD IEA |
| 37. | HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. | Mura C, etal., Blood. 1999 Apr 15;93(8):2502-5. |
| 38. | Hemochromatosis-associated gene mutations in patients with myelodysplastic syndromes with refractory anemia with ringed sideroblasts. | Nearman ZP, etal., Am J Hematol. 2007 Dec;82(12):1076-9. |
| 39. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 40. | The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2. | Oliva R, etal., Endocrine. 2004 Jul;24(2):111-4. |
| 41. | HFE gene mutations in Brazilian thalassemic patients. | Oliveira TM, etal., Braz J Med Biol Res. 2006 Dec;39(12):1575-80. |
| 42. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 43. | Hemochromatosis gene variants in patients with cardiomyopathy. | Pereira AC, etal., Am J Cardiol. 2001 Aug 15;88(4):388-91. |
| 44. | A mouse model of familial porphyria cutanea tarda. | Phillips JD, etal., Proc Natl Acad Sci U S A. 2001 Jan 2;98(1):259-64. |
| 45. | Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank. | Pilling LC, etal., BMJ. 2019 Jan 16;364:k5222. doi: 10.1136/bmj.k5222. |
| 46. | [Mutations in the HFE gene in patients with rheumatic diseases]. | Putova I, etal., Cas Lek Cesk. 2005;144(6):391-7; discussion 397-8. |
| 47. | Transferrin Level Before Treatment and Genetic Polymorphism in HFE Gene as Predictive Markers for Response to Adalimumab in Crohn's Disease Patients. | Repnik K, etal., Biochem Genet. 2016 Aug;54(4):476-486. doi: 10.1007/s10528-016-9734-0. Epub 2016 Apr 26. |
| 48. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 49. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 50. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 51. | Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. | Robson KJ, etal., J Med Genet 2004 Apr;41(4):261-5. |
| 52. | Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: comparison of the human, mouse and rat HFE promoter regions. | Sanchez M, etal., Gene 1998 Dec 28;225(1-2):77-87. |
| 53. | Glutathione S-transferase (GST) polymorphisms as risk factors for cancer in a highly homogeneous population from southern Italy. | Sgambato A, etal., Anticancer Res. 2002 Nov-Dec;22(6B):3647-52. |
| 54. | Mutations in the HFE gene can be associated with increased lung disease severity in cystic fibrosis. | Smith DJ, etal., Gene. 2019 Jan 30;683:12-17. doi: 10.1016/j.gene.2018.10.002. Epub 2018 Oct 3. |
| 55. | Iron overload exacerbates age-associated cardiac hypertrophy in a mouse model of hemochromatosis. | Sukumaran A, etal., Sci Rep. 2017 Jul 18;7(1):5756. doi: 10.1038/s41598-017-05810-2. |
| 56. | Haemochromatosis (HFE) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: a study in 1279 patients undergoing coronary angiography. | Surber R, etal., J Med Genet. 2003 May;40(5):e58. |
| 57. | Hereditary Hemochromatosis Associations with Frailty, Sarcopenia and Chronic Pain: Evidence from 200,975 Older UK Biobank Participants. | Tamosauskaite J, etal., J Gerontol A Biol Sci Med Sci. 2019 Feb 15;74(3):337-342. doi: 10.1093/gerona/gly270. |
| 58. | The C282Y mutation of the HFE gene is not found in Chinese haemochromatotic patients: multicentre retrospective study. | Tsui WM, etal., Hong Kong Med J. 2000 Jun;6(2):153-8. |
| 59. | Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation : a prospective cohort study in men in eastern Finland. | Tuomainen TP, etal., Circulation. 1999 Sep 21;100(12):1274-9. |
| 60. | High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest Study on 50 patients. | Varkonyi J, etal., Acta Haematol. 2003;109(2):64-7. |
| 61. | HFE gene mutations in patients with acute leukemia. | Viola A, etal., Leuk Lymphoma. 2006 Nov;47(11):2331-4. |
| 62. | [Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. | Wolff CF, etal., Medicina (B Aires). 2006;66(5):421-6. |
| 63. | Hepatic macrophage iron aggravates experimental alcoholic steatohepatitis. | Xiong S, etal., Am J Physiol Gastrointest Liver Physiol. 2008 Sep;295(3):G512-21. doi: 10.1152/ajpgi.90327.2008. Epub 2008 Jul 3. |
| 64. | The effect of iron status on vascular health. | Yunker LM, etal., Vasc Med. 2006 May;11(2):85-91. |
| 65. | The overlapping of local iron overload and HFE mutation in venous leg ulcer pathogenesis. | Zamboni P, etal., Free Radic Biol Med. 2006 May 15;40(10):1869-73. Epub 2006 Feb 14. |
| 66. | Hemochromatosis C282Y gene mutation increases the risk of venous leg ulceration. | Zamboni P, etal., J Vasc Surg. 2005 Aug;42(2):309-14. |
Additional References at PubMed
| PMID:8889548 | PMID:9020055 | PMID:9396865 | PMID:9482913 | PMID:9486091 | PMID:9548560 | PMID:10077651 | PMID:10081226 | PMID:10349636 | PMID:10381492 | PMID:10557317 | PMID:10681454 |
| PMID:10791995 | PMID:11042159 | PMID:11076861 | PMID:11159549 | PMID:11226304 | PMID:11313312 | PMID:11340100 | PMID:11358357 | PMID:11641716 | PMID:11875007 | PMID:11943867 | PMID:12149232 |
| PMID:12297827 | PMID:12367579 | PMID:12468424 | PMID:12477932 | PMID:12540785 | PMID:12547226 | PMID:12631660 | PMID:12704388 | PMID:12704390 | PMID:12706501 | PMID:12750309 | PMID:12805055 |
| PMID:12880182 | PMID:14510961 | PMID:14610273 | PMID:14618243 | PMID:14656876 | PMID:14656877 | PMID:14673107 | PMID:15098034 | PMID:15131800 | PMID:15155457 | PMID:15192150 | PMID:15257718 |
| PMID:15308612 | PMID:15319276 | PMID:15382179 | PMID:15389541 | PMID:15613548 | PMID:15684062 | PMID:15718038 | PMID:15782199 | PMID:15849611 | PMID:15866286 | PMID:15914561 | PMID:16123136 |
| PMID:16141072 | PMID:16141073 | PMID:16239432 | PMID:16339398 | PMID:16491649 | PMID:16565419 | PMID:16688533 | PMID:16893896 | PMID:17003411 | PMID:17062627 | PMID:17064691 | PMID:17116709 |
| PMID:17207112 | PMID:17255318 | PMID:17258727 | PMID:17264297 | PMID:17293870 | PMID:17376729 | PMID:17495347 | PMID:17971451 | PMID:18042040 | PMID:18249176 | PMID:18316026 | PMID:18367482 |
| PMID:18393371 | PMID:18684963 | PMID:18694968 | PMID:19254567 | PMID:19348938 | PMID:19426170 | PMID:19591830 | PMID:19622835 | PMID:19700664 | PMID:19787063 | PMID:19809161 | PMID:19824072 |
| PMID:20060900 | PMID:20110460 | PMID:20177050 | PMID:20338170 | PMID:20530874 | PMID:20634490 | PMID:20837779 | PMID:20876715 | PMID:20976594 | PMID:21059897 | PMID:21245482 | PMID:21267068 |
| PMID:21349849 | PMID:21355094 | PMID:21364282 | PMID:21408141 | PMID:21677750 | PMID:21817060 | PMID:21873635 | PMID:22058337 | PMID:22244935 | PMID:22370144 | PMID:22383097 | PMID:22466002 |
| PMID:22496346 | PMID:22497726 | PMID:22531912 | PMID:22745741 | PMID:22858058 | PMID:22960056 | PMID:22996660 | PMID:23169885 | PMID:23223430 | PMID:23429074 | PMID:23524968 | PMID:23705020 |
| PMID:24126888 | PMID:24155934 | PMID:24439478 | PMID:24685134 | PMID:24904118 | PMID:24952961 | PMID:25283820 | PMID:25427953 | PMID:25608116 | PMID:25609138 | PMID:25880808 | PMID:26028554 |
| PMID:26301810 | PMID:26660104 | PMID:26707700 | PMID:26835538 | PMID:27295312 | PMID:27354540 | PMID:27741349 | PMID:27796299 | PMID:28350201 | PMID:28378742 | PMID:28558946 | PMID:28784700 |
| PMID:28864822 | PMID:29315562 | PMID:29445185 | PMID:30277817 | PMID:30427936 | PMID:31132316 | PMID:31188032 | PMID:31298936 | PMID:31339576 | PMID:31442254 | PMID:31717526 | PMID:32019729 |
| PMID:32083318 | PMID:32108988 | PMID:32227235 | PMID:32239172 | PMID:32380257 | PMID:32574378 | PMID:32746697 | PMID:32861780 | PMID:32955078 | PMID:33054105 | PMID:33148716 | PMID:33839281 |
| PMID:34855211 | PMID:34995689 | PMID:35359834 | PMID:36064805 | PMID:36322932 |
Genomics
Comparative Map Data
| Hfe (Mus musculus - house mouse) |
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| HFE (Homo sapiens - human) |
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| Hfe (Rattus norvegicus - Norway rat) |
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| Hfe (Chinchilla lanigera - long-tailed chinchilla) |
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| HFE (Pan paniscus - bonobo/pygmy chimpanzee) |
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| HFE (Canis lupus familiaris - dog) |
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| Hfe (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| HFE (Sus scrofa - pig) |
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| HFE (Chlorocebus sabaeus - green monkey) |
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| Hfe (Heterocephalus glaber - naked mole-rat) |
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miRNA Target Status
Predicted Target Of
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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QTLs in Region (GRCm39)
| The following QTLs overlap with this region. | | Full Report | | CSV | | TAB | | Printer | | Gviewer |
Markers in Region
| RH142147 |
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| U66849 |
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| PMC23944P1 |
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| PMC315447P1 |
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