Disease: Abetalipoproteinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease HPO
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease CTD_human
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease GENOMICS_ENGLAND Peripheral neuropathy in abetalipoproteinemia. 2991816 1985
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease GENOMICS_ENGLAND Peripheral neuropathy in abetalipoproteinemia. 2991816 1985
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease BEFREE We constructed a long-range restriction map of the tuberous sclerosis (TSC1) region of human chromosome 9q34, extending from ABL (T39-2-2) to D9S114. 7590733 1995
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 Biomarker disease BEFREE Mutations in MTP which result in an absence of MTP function have been shown to cause abetalipoproteinemia. 7782284 1995
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 BEFREE Thus, mutations in the gene for the large subunit of MTP are a cause of abetalipoproteinemia, which indicates that the MTP is a necessary component for the assembly and secretion of apoB-containing lipoproteins from the liver and intestine. 8044420 1994
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 Biomarker disease BEFREE The results indicate that a defect in the gene for the large subunit of MTP is the proximal cause of abetalipoproteinaemia in these two subjects, and that MTP is required for the secretion of plasma lipoproteins that contain apolipoprotein B. 8361539 1993
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease CLINVAR Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. 8533758 1995
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 GeneticVariation disease BEFREE In the current study we have characterized the gene encoding a microsomal triglyceride-transfer protein (MTP), localized to chromosome 4q22-24, and have identified a mutation of the MTP gene in both alleles of all individuals in a cohort of eight patients with classical ABL. 8533758 1995
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease BEFREE It is not clear how loss of MTP in ABL patients leads to a complete, but specific, block in the secretion of apoB. 8808765 1996
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. 8939939 1996
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease UNIPROT A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. 8939939 1996
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 CausalMutation disease CLINVAR A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. 8939939 1996
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 GeneticVariation disease BEFREE Abetalipoproteinemia (ABL) is a rare autosomal recessive deficiency of apoB-containing lipoproteins caused by a microsomal triglyceride transfer protein (MTP) deficiency. 10446076 1999
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease UNIPROT 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 GeneticVariation disease BEFREE 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 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 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 These results indicated that defects of the MTP gene are the proximal cause of ABL. 10946006 2000