Disease: Abetalipoproteinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.130 GeneticVariation disease BEFREE Abetalipoproteinemia and chylomicron retention disease are due to mutations in the microsomal transfer protein and Sar1b-GTPase genes, which affect the secretion of apoB containing lipoproteins. 26546829 2016
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.130 GeneticVariation disease BEFREE Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. 23043934 2013
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.130 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 		0.130 Biomarker disease HPO