Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease BEFREE A determination of the specific mutation in Anderson disease or CMRD is required to ensure diagnosis and allow prompt therapeutic intervention in these children. 17945526 2008
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease BEFREE Targeted next generation DNA sequencing revealed several rare heterozygous missense variants in both MTTP and APOB genes known or predicted to be deleterious, in addition to a novel heterozygous missense variant in SAR1B, which encodes the gene causing chylomicron retention disease. 29540175 2018
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease CLINVAR Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. 12692552 2003
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease UNIPROT Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. 12692552 2003
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease BEFREE Through their inhibition of chylomicron secretion, mutations of the Sar1B gene coding for Sar1 GTPase are associated with chylomicron retention disease (CRD). 19285442 2009
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease CLINVAR Chylomicron retention disease: a long term study of two cohorts. 19285442 2009
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease CLINVAR Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein. 17945526 2008
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease BEFREE Sar1B GTPase is one of the critical proteins governing chylomicron secretion by the small intestine, and its mutations lead to chylomicron retention disease, despite the presence of Sar1A paralog. 28982670 2017
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 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: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease BEFREE We report 4 children with intestinal lipid malabsorption were found to have chylomicron retention disease due to 3 novel variants in the SAR1B gene. 31253576 2019
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease BEFREE Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene. 19846172 2010
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease BEFREE Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. 18786134 2008
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease BEFREE Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. 23043934 2013
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease UNIPROT Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease. 19274794 2009
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease BEFREE Anderson disease is a rare inherited lipid malabsorption syndrome associated with hypocholesterolemia and linked to SAR1B mutations. 22441101 2012
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 GeneticVariation disease UNIPROT SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. 17309654 2007
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		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 		0.130 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 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 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: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.130 GeneticVariation disease BEFREE Anderson disease (ANDD) or chylomicron retention disease (CMRD) is a rare, hereditary lipid malabsorption syndrome associated with mutations in the SAR1B gene that is characterized by failure to thrive and hypocholesterolemia. 25559265 2015
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.130 GeneticVariation disease BEFREE Anderson disease (and/or chylomicron retention disease-CMRD) is a rare, autosomic recessive disorder characterized by chronic diarrhea, failure to thrive, and hypocholesterolemia in childhood. 17945526 2008
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.130 GeneticVariation disease BEFREE Anderson disease is a rare inherited lipid malabsorption syndrome associated with hypocholesterolemia and linked to SAR1B mutations. 22441101 2012
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.120 GeneticVariation disease BEFREE Anderson disease (ANDD) or chylomicron retention disease (CMRD) is a rare, hereditary lipid malabsorption syndrome associated with mutations in the SAR1B gene that is characterized by failure to thrive and hypocholesterolemia. 25559265 2015
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.040 GeneticVariation group BEFREE Here we identify eight mutations in SARA2 that are associated with three severe disorders of fat malabsorption. 12692552 2003