Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker GENOMICS_ENGLAND Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up. 27160094

2016
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation 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
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation 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
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GermlineCausalMutation ORPHANET Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. 24288038

2014
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GermlineCausalMutation ORPHANET We discovered a novel mutation in MTTP gene and we confirmed the diagnosis of abetalipoproteinemia in new Tunisian families. 23556456

2013
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation UNIPROT These studies point out that ABL is associated with the absence of both triglyceride and phospholipid transfer activities in MTP. 23475612

2013
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation UNIPROT Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. 22236406

2012
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GermlineCausalMutation ORPHANET Clinical utility gene card for: Abetalipoproteinaemia. 22378282

2012
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation UNIPROT These findings suggest that genetic and non-genetic factors can modulate the clinical impact of mutant MTP in ABL patients. 10679949

2000
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation UNIPROT These results indicated that defects of the MTP gene are the proximal cause of ABL. 10946006

2000
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation 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
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker GENOMICS_ENGLAND Peripheral neuropathy in abetalipoproteinemia. 2991816

1985
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker GENOMICS_ENGLAND Peripheral neuropathy in abetalipoproteinemia. 2991816

1985
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker CTD_human