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 GeneticVariation disease UNIPROT These studies point out that ABL is associated with the absence of both triglyceride and phospholipid transfer activities in MTP. 23475612 2013
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease BEFREE These studies point out that ABL is associated with the absence of both triglyceride and phospholipid transfer activities in MTP. 23475612 2013
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease UNIPROT Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. 22236406 2012
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 CausalMutation disease CLINVAR Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. 22236406 2012
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. 22236406 2012
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GermlineCausalMutation disease ORPHANET Clinical utility gene card for: Abetalipoproteinaemia. 22378282 2012
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE The rare recessive forms of primary monogenic HBL are represented by abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) due to mutations in MTP and SARA2 genes, respectively. 21874758 2011
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia. 21502686 2011
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 CLINVAR Abetalipoproteinemia: two case reports and literature review. 18611256 2008
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 Biomarker disease BEFREE Numbers of NPM-ALK transcripts were normalized to 10(4) copies ABL (NCNs). 17392503 2007
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 BEFREE We describe two novel mutations: one an APOB gene mutation causing FHBL and the other a microsomal triglyceride transfer protein (MTP) gene mutation causing ABL. 18027103 2007
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE We also report the first case of ABL and additional abnormalities in a Muslim Arab patient, due to a homozygous contiguous gene deletion of approximately 481 kb, including MTP and eight other genes. 17275380 2007
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE We describe a patient with sub-clinical hypothyroidism and ABL found to be compound heterozygous for a novel splice site mutation of intron 1 (c.61 + 2T > C) and a single adenine insertion in MTP exon 4 (c.419-420insA) that results in a frameshift and a protein truncated at 140 amino acids. 17132287 2006
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Here we report three patients with severe deficiency of plasma low-density lipoprotein (LDL) and apo B.Two of them (probands F.A. and P.E.) had clinical and biochemical phenotype consistent with ABL.Proband F.A. was homozygous for a minute deletion/insertion (c.1228delCCCinsT) in exon 9 of MTP gene predicted to cause a truncated MTP protein of 412 amino acids. 15910857 2005
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE The pigmentary retinopathy and neuropathy of abetalipoproteinemia (Mendelian Inheritance of Man 200100; Bassen-Kornzwieg disease), which is caused by mutations in the MTP gene, may involve loss of function at the retina. 15654125 2005
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Truncation-causing mutations in the APOB gene cause familial hypobetalipoproteinaemia, whereas mutations in MTP result in abetalipoproteinaemia; both rare conditions are characterised by marked hypocholesterolaemia. 16390683 2005
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 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 CausalMutation disease CLINVAR Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. 12630961 2003
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