Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 Biomarker disease BEFREE Intestinal lipid malabsorption, resulting from an impaired formation or secretion of chylomicrons and associated with severe hypobetalipoproteinemia (HBL), may be due to biallelic mutations in APOB (homozygous FHBL type-1), MTTP (abetalipoproteinemia), or SAR1B (chylomicron retention disease). 31253576 2019
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease BEFREE Abetalipoproteinemia (ABL) is a rare recessive monogenic disease due to MTTP (microsomal triglyceride transfer protein) mutations leading to the absence of plasma apoB-containing lipoproteins. 30875496 2019
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease BEFREE Nevertheless, we found increased abundance of fecal Akkermansia from two adult ABL subjects with MTTP mutations compared to their heterozygous parents and within the range noted in six healthy control subjects. 31004524 2019
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease BEFREE Three ABL (Abelson) kinase inhibitors prevented cell proliferation of HUVEC-TIE2-L914F. 30626204 2019
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease BEFREE Abetalipoproteinemia and homozygous hypobetalipoproteinemia are classical Mendelian autosomal recessive and co-dominant conditions, respectively, which are phenotypically similar and are usually caused by bi-allelic mutations in MTTP and APOB genes, respectively. 29540175 2018
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 Biomarker disease BEFREE Fifty-two percent were MDD positive by RT-PCR and 37% had more than 10 copies of NPM-ALK per 10<sup>4</sup> copies of ABL (10NCNs) by qPCR. 29030834 2018
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease BEFREE Her cousin was homozygous for 1867+1G>A MTTP mutation and presented most of the classical symptoms of ABL. 27578136 2017
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease BEFREE Using induced pluripotent stem cells (iPSCs) generated from an ABL patient homozygous for a missense mutation (MTTP<sup>R46G</sup>), we show that human hepatocytes and cardiomyocytes exhibit defects associated with ABL disease, including loss of apolipoprotein B (apoB) secretion and intracellular accumulation of lipids. 28514664 2017
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 Biomarker disease BEFREE ABL (ABL1) and ARG (ABL2) are highly homologous to each other in overall domain structure and amino-acid sequence, with the exception of their C termini. 28386107 2017
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease BEFREE Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects. 27487388 2016
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 Biomarker disease GENOMICS_ENGLAND Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up. 27160094 2016
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease BEFREE Characterization of mutations in MTP causing abetalipoproteinemia has revealed that the central α-helical and C-terminal β-sheet domains are important for protein disulfide isomerase binding and lipid transfer activity. 26224785 2015
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease UNIPROT Characterization of mutations in MTP causing abetalipoproteinemia has revealed that the central α-helical and C-terminal β-sheet domains are important for protein disulfide isomerase binding and lipid transfer activity. 26224785 2015
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease BEFREE Our results demonstrated that ABL SH3 mutant T79Y markedly repressed the expression of BCR-ABL signaling pathways in IM-resistant cell lines KCL22 and K562/G01 as well as IM-sensitive cell line K562. 26321052 2015
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 Biomarker disease BEFREE Knowledge of the molecular basis for abetalipoproteinemia has led to the development of therapies for dyslipidemia that inhibit MTP. 25552696 2015
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease BEFREE Cases of MTTP gene mutation is characterized by abetalipoproteinemia and remarkable hepatic steatosis or cirrhosis. 26458397 2015
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease BEFREE Several mutations in the apoB, proprotein convertase subtilisin/kexin type 9 (PCSK9), and MTP genes result in low or absent levels of apoB and LDL-cholesterol in plasma, which cause familial hypobetalipoproteinemia and abetalipoproteinemia. 24751931 2014
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 Biomarker disease BEFREE Sanger sequencing of MTTP was performed for two unrelated consanguineous Tunisian families with two affected individuals each, presenting a more severe ABL phenotype than previously reported in the literature. 24139731 2014
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease UNIPROT These studies indicate that missense mutations Y528H, R540C, and N649S appear to cause ABL by reducing MTTP activity rather than by reducing binding of MTTP with protein disulfide isomerase or apoB. 25108285 2014
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GermlineCausalMutation disease ORPHANET Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. 24288038 2014
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease BEFREE Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. 23043934 2013
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation disease BEFREE We discovered a novel mutation in MTTP gene and we confirmed the diagnosis of abetalipoproteinemia in new Tunisian families. 23556456 2013
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GermlineCausalMutation disease ORPHANET We discovered a novel mutation in MTTP gene and we confirmed the diagnosis of abetalipoproteinemia in new Tunisian families. 23556456 2013
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 CausalMutation disease CLINVAR These studies point out that ABL is associated with the absence of both triglyceride and phospholipid transfer activities in MTP. 23475612 2013