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 Biomarker disease GENOMICS_ENGLAND
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 Biomarker disease CTD_human
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.300 Biomarker disease GENOMICS_ENGLAND
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: 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: 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: 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: 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 (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: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.130 Biomarker disease HPO
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.130 Biomarker disease HPO
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: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.120 Biomarker disease BEFREE Sar1b is defective in chylomicron retention disease and Anderson disease, two rare recessive disorders characterized by severe fat malabsorption and a failure to thrive in infancy. 15017362 2004
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.120 Biomarker disease HPO
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 Biomarker disease HPO
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.100 Biomarker group HPO
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		0.100 Biomarker phenotype HPO
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.100 Biomarker disease HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		0.100 Biomarker disease HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO