Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant
0.020 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: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant
0.020 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