SLC46A1, solute carrier family 46 member 1, 113235

N. diseases: 97; N. variants: 20
Disease: Folate Malabsorption, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 CausalMutation disease CLINVAR
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 Biomarker disease CTD_human
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 Biomarker disease GENOMICS_ENGLAND A family study of congenital malabsorption of folate. 11804211 2001
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease UNIPROT Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. 17129779 2006
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease UNIPROT These findings further substantiate the role that mutations in PCFT play in the pathogenesis of HFM and will make possible rapid diagnosis and treatment of this disorder in infants, and prenatal diagnosis in families that carry a mutated gene. 17446347 2007
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. 17446347 2007
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease UNIPROT These findings establish a novel loss of function mutation in HFM residing in an intracellular loop of PCFT crucial for folate transport. 18559978 2008
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption. 18718264 2008
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function. 18559978 2008
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Hereditary folate malabsorption is a rare inborn error of metabolism due to mutations in the proton-coupled folate transporter (PCFT). 19740703 2009
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE PCFT is critical to intestinal folate absorption and transport into the central nervous system because there are loss-of-function mutations in this gene in the autosomal recessive disorder, hereditary folate malabsorption. 19074442 2009
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Some loss of folic acid (FA) transport mutations in PCFT from hereditary folate malabsorption (HFM) patients cluster in R113, thereby suggesting a functional role for this residue. 19508863 2009
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease UNIPROT This report characterizes properties and requirements of the R376 residue in PCFT function, including a R376Q mutant associated with HFM. 20686069 2010
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption. 20795774 2010
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption. 20686069 2010
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption. 20005757 2010
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease UNIPROT Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption. 20805364 2010
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption. 20805364 2010
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption. 21333572 2011
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease UNIPROT In this report, novel mutations are described in three subjects with HFM: A335D/N68Kfs (c.1004C>A/c.204-205delCC), compound heterozygous mutations, and two homozygous PCFT mutations, G338R (c.1012G>C) and E9Gfs (c.17-18insC). 21333572 2011
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico. 21489556 2011
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 Biomarker disease BEFREE In this report, we describe a new murine model of the hereditary folate malabsorption syndrome that we developed through targeted disruption of the first 3 coding exons of the murine homolog of the PCFT gene. 21346251 2011
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE A P425R mutation of the proton-coupled folate transporter causing hereditary folate malabsorption produces a highly selective alteration in folate binding. 22345511 2012
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE PCFT was identified in 2006 as the primary transporter for intestinal absorption of dietary folates, as mutations in PCFT are causal in hereditary folate malabsorption (HFM) syndrome. 22954694 2012