SLC40A1, solute carrier family 40 member 1, 30061

N. diseases: 101; N. variants: 31
Disease: Hereditary hemochromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis. 29154924 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE Mutations of SLC40A1 that encodes ferroportin, the only cellular iron exporter, causes either HH type 4A (loss-of-function mutations) or HH type 4B (gain-of-function mutations). 29134618 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE Hereditary Hemochromatosis (HH) is a genetically heterogeneous disorder caused by mutations in at least five different genes (HFE, HJV, TFR2, SLC40A1, HAMP) involved in the production or activity of the liver hormone hepcidin, a key regulator of systemic iron homeostasis. 28335084 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis. 27896572 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE However, in certain geographical regions like the Mediterranean area, up to 30% of patients with a HH phenotype has a negative or non-diagnostic (i.e. simple heterozygosity) test, because of a known heterogeneity involving at least four other genes (HAMP, HJV, TFR2, and SLC40A1). 26799139 2016
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE Our results make it likely the role of rs10421768, rs235756, rs2230267 and rs1439816 polymorphisms, respectively in HAMP, BMP2, FTL and SLC40A1 genes in HH expressivity. 25976471 2015
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4. 26059880 2015
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE In addition to HFE gene, mutations in the genes that encode hemojuvelin (HJV), hepcidin (HAMP), transferrin receptor 2 (TFR2) and ferroportin (SLC40A1) have been associated with regulation of iron homeostasis and development of HH. 22408404 2012
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease CTD_human Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients. 21411349 2011
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE To screen exon-by-exon DNA sequences of HFE, HJV, HAMP, TFR2 and SLC40A1 genes to characterize the molecular basis of HH in a sample of the Brazilian population. 21411349 2011
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE There is coordinated regulation between duodenal expression of FPN1 and DMT1, FPN1 and DCYTB, and FPN1 and HEPH and also DCYTB and HEPH in HH subjects regardless of phenotype. 19892936 2010
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE We have identified novel mutations in HJV, HAMP, and SLC40A1 in countries not normally associated with hereditary hemochromatosis (Pakistan, Bangladesh, Sri Lanka, and Thailand). 19342478 2009
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE To evaluate the role of HFE, TfR2 and SCL40A1 mutations in Brazilian subjects with HH. 19759876 2009
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV. 17997113 2008
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE We focused on two biologically relevant gene categories: genes involved in non-HFE GH (TFR2, HAMP, and SLC40A1) and genes involved in the regulation of hepcidin expression, including genes from the bone morphogenetic protein (BMP) regulatory pathway (BMP2, BMP4, HJV, SMAD1, SMAD4, and SMAD5) and the IL6 gene from the inflammation-mediated regulation pathway. 17847004 2007
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease CTD_human Wild-type and mutant ferroportins do not form oligomers in transfected cells. 16457665 2006
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE Previous reports concerning gene expression levels of the duodenal iron transporters DMT1 and IREG1 in HH patients and animal models are controversial, however, and in many cases only mRNA expression levels were investigated. 14618243 2004
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 AlteredExpression disease BEFREE DMT1 and IREG1 mRNA levels were not significantly different in non-phlebotomised (untreated) HH patients compared with controls. 15247188 2004
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 AlteredExpression disease BEFREE In HFE associated hereditary haemochromatosis, the duodenal enterocyte behaves as if iron deficient and previous reports have shown increased duodenal expression of divalent metal transporter 1 (DMT1) and iron regulated gene 1 (Ireg1) in affected subjects. 12801950 2003
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE Using polymerase chain reaction sequence-specific primer (PCR-SSP) technology, we have developed an HH diagnosis assay capable of detecting 19 non-synonymous HFE mutations (including a previously unreported mutation, V295A) and several TFR2, SLC11A3 and H ferritin alleles implicated in HH. 12542741 2002