Source: CLINVAR

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 CausalMutation CLINVAR 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 CausalMutation CLINVAR 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 GeneticVariation CLINVAR Abetalipoproteinemia: two case reports and literature review. 18611256

2008
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 CausalMutation CLINVAR Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. 17275380

2007
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation CLINVAR Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. 17275380

2007
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 CausalMutation CLINVAR Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. 12630961

2003
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 CausalMutation CLINVAR 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 CausalMutation CLINVAR 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 CausalMutation 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
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation CLINVAR Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. 8533758

1995
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 CausalMutation CLINVAR Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. 8533758

1995
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 CausalMutation 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