DGAT1, diacylglycerol O-acyltransferase 1, 8694

N. diseases: 64; N. variants: 4
Disease: Pediatric failure to thrive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.010 GeneticVariation disease BEFREE A patient presenting at our institution at 7 weeks of life with failure to thrive and diarrhea was found by whole-exome sequencing to have a homozygous DGAT1 truncation mutation. 30095213 2018