Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE ABL and CRD are rare disorders due to mutations in the MTP and SARA2 genes, respectively. 17570373 2007
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease CLINVAR Abetalipoproteinemia: two case reports and literature review. 18611256 2008
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease BEFREE We report here the use of a polymorphic CA dinucleotide repeat in intron 10, MTPIVS10, of the large subunit of the human MTP protein in the analysis of a pregnancy in a consanguineous family, in which abetalipoproteinaemia was suspected, although prenatal diagnosis was subsequently refused. 9467817 1997
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 CausalMutation disease CLINVAR These findings suggest that genetic and non-genetic factors can modulate the clinical impact of mutant MTP in ABL patients. 10679949 2000
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 CausalMutation disease CLINVAR Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. 12630961 2003
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 CausalMutation disease CLINVAR Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. 8533758 1995
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease GENOMICS_ENGLAND Peripheral neuropathy in abetalipoproteinemia. 2991816 1985
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 CausalMutation disease CLINVAR A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia. 7782284 1995
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 Mutations in the gene encoding the 97-kDa subunit of a microsomal triglyceride transfer protein (MTP) cause ABL (Sharp, D., Blinderman, L., Combs, K. A., Klenzle, B., Ricci, B., Wager-Smith, K., Gil, C. M., Turck, C. W., Bouma, M. E., Rader, D. J., Aggerbeck, L. P., Gregg, R. E., Gordon, D. A., and Wetterau, J. R. (1993) Nature 365, 65-69; Shoulders, C. C., Brett, D. J., Bayliss, J. D., Narcisi, T. M., Jarmuz, A., Grantham, T. T., Leoni, P. R. D., Bhattacharya, S., Pease, R. J., Cullen, P. M., Levi, S., Byfield, P. G. H., Purkiss, P., and Scott, J.(1993) Hum.Mol.Genet.2, 2109-2116). 8071315 1994
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 GeneticVariation disease BEFREE Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia. 21502686 2011
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 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 GeneticVariation disease LHGDN ABL results from mutations in the MTP gene; Ho-FHBL may be due to mutations in the APOB gene. 19056372 2009
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 CausalMutation disease CLINVAR These results indicated that defects of the MTP gene are the proximal cause of ABL. 10946006 2000
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease UNIPROT Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. 22236406 2012
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 CausalMutation disease CLINVAR Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. 22236406 2012
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 GeneticVariation disease BEFREE Fluorescence in situ hybridization (FISH) analyses using BCR and ABL probes showed that in 20% of metaphases BCR and ABL signals were present on one chromosome 6 at 6p23, whilst in 80% of metaphases BCR and ABL signals were identified on both copies of chromosome 6. 7596189 1995
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 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 Biomarker disease HPO
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