Disease: Abetalipoproteinemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1367079155
rs1367079155
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		0.700 GeneticVariation UNIPROT Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function. 26224785 2015
dbSNP: rs1367079155
rs1367079155
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		0.700 GeneticVariation UNIPROT In two patients with ABL, we identified in MTTP a novel frameshift mutation (K35Ffs*37), and four novel missense mutations, namely, G264R, Y528H, R540C, and N649S. 25108285 2014
dbSNP: rs1367079155
rs1367079155
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		0.700 GeneticVariation UNIPROT Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. 23475612 2013
dbSNP: rs1367079155
rs1367079155
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		0.700 GeneticVariation UNIPROT Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. 22236406 2012
dbSNP: rs1367079155
rs1367079155
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		0.700 GeneticVariation UNIPROT Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. 10679949 2000
dbSNP: rs1367079155
rs1367079155
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		0.700 GeneticVariation UNIPROT Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. 10946006 2000
dbSNP: rs1367079155
rs1367079155
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		0.700 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