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 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 BEFREE Abetalipoproteinemia (ABL) is a recessive disorder due to mutations of microsomal triglyceride transfer protein (MTP) gene. 14732481 2004
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE ABL and CRD are rare disorders due to mutations in the MTP and SARA2 genes, respectively. 17570373 2007
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease LHGDN ABL results from mutations in the MTP gene; Ho-FHBL may be due to mutations in the APOB gene. 19056372 2009
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Abetalipoproteinemia (ABL; OMIM 200100) is an inherited disorder resulting from mutations in the microsomal triglyceride transfer protein gene and characterized by a major lipid malabsorption leading to extremely low plasma cholesterol and triglyceride levels and fat-soluble vitamins deficiencies. 19066957 2009
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Abetalipoproteinemia and homozygous hypobetalipoproteinemia are classical Mendelian autosomal recessive and co-dominant conditions, respectively, which are phenotypically similar and are usually caused by bi-allelic mutations in MTTP and APOB genes, respectively. 29540175 2018
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Abetalipoproteinemia (ABL) is a rare recessive monogenic disease due to MTTP (microsomal triglyceride transfer protein) mutations leading to the absence of plasma apoB-containing lipoproteins. 30875496 2019
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease BEFREE Microsomal triglyceride transfer protein (MTP) is necessary for the assembly and secretion of VLDL and when the protein is not functional, such as in abetalipoproteinaemia, a steatohepatitis occurs. 10990076 2000
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease BEFREE ABL (ABL1) and ARG (ABL2) are highly homologous to each other in overall domain structure and amino-acid sequence, with the exception of their C termini. 28386107 2017
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 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 GeneticVariation disease BEFREE A search for sequence variants in the large subunit of MTP in a kindred of 10 individuals from Saguenay-Lac-St Jean area with a propositus exhibiting ABL as well as in four independent patients from the greater Quebec city area and exhibiting very low apoB and LDL-cholesterol levels identified 12 variations. 14741197 2004
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GermlineCausalMutation disease ORPHANET Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. 24288038 2014
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 CausalMutation disease 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
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease 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
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease CLINVAR Abetalipoproteinemia: two case reports and literature review. 18611256 2008
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 AlteredExpression disease BEFREE BCR-ABL signals from patient RNA samples were quantified relative to known amounts of K562 RNA and normalised to levels of ABL. 11896544 2002
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Cases of MTTP gene mutation is characterized by abetalipoproteinemia and remarkable hepatic steatosis or cirrhosis. 26458397 2015
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease 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
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE 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