Disease: Abetalipoproteinemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1485375137
rs1485375137
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: rs372321643
rs372321643
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: rs1485375137
rs1485375137
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: rs1560621495
rs1560621495
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		A 0.700 CausalMutation CLINVAR Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. 22236406 2012
dbSNP: rs372321643
rs372321643
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: rs755681036
rs755681036
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		A 0.700 GeneticVariation CLINVAR Abetalipoproteinemia: two case reports and literature review. 18611256 2008
dbSNP: rs146064714
rs146064714
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		T 0.700 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
dbSNP: rs1560614646
rs1560614646
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		T 0.700 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
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: rs146064714
rs146064714
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		T 0.700 CausalMutation CLINVAR Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. 10679949 2000
dbSNP: rs1485375137
rs1485375137
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: rs1485375137
rs1485375137
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: rs372321643
rs372321643
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: rs372321643
rs372321643
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
dbSNP: rs1485375137
rs1485375137
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
dbSNP: rs372321643
rs372321643
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
dbSNP: rs146064714
rs146064714
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		T 0.700 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
dbSNP: rs146064714
rs146064714
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		T 0.700 CausalMutation CLINVAR Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. 8533758 1995
dbSNP: rs755681036
rs755681036
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		A 0.700 GeneticVariation CLINVAR Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. 8533758 1995
dbSNP: rs1553926818
rs1553926818
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553927840
rs1553927840
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1560614154
rs1560614154
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		T 0.700 CausalMutation CLINVAR