DGAT1, diacylglycerol O-acyltransferase 1, 8694

N. diseases: 64; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.440 GeneticVariation phenotype 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
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.440 GeneticVariation phenotype BEFREE Congenital diarrheal disorders are rare inherited intestinal disorders characterized by intractable, sometimes life-threatening, diarrhea and nutrient malabsorption; some have been associated with mutations in diacylglycerol-acyltransferase 1 (DGAT1), which catalyzes formation of triacylglycerol from diacylglycerol and acyl-CoA. 29604290 2018
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.440 Biomarker phenotype BEFREE Our findings add to the growing recognition of DGAT1 deficiency as a cause of congenital diarrhea with protein-losing enteropathy and indicate that <i>DGAT1</i> mutations result in a spectrum of diseases. 28373485 2017
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.440 Biomarker phenotype BEFREE The precise cause of diarrhea is unknown, but we speculate that it relates to abnormal fat absorption and buildup of DGAT substrates in the intestinal mucosa. 23114594 2012
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.440 Biomarker phenotype CTD_human
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.440 Biomarker phenotype HPO
CUI: C4014516
Disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE
DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE 		0.400 GeneticVariation disease CLINVAR Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. 26883093 2016
CUI: C4014516
Disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE
DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE 		0.400 GeneticVariation disease CLINVAR DGAT1 mutation is linked to a congenital diarrheal disorder. 23114594 2012
CUI: C4014516
Disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE
DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE 		0.400 GermlineCausalMutation disease ORPHANET DGAT1 mutation is linked to a congenital diarrheal disorder. 23114594 2012
CUI: C4014516
Disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE
DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE 		0.400 CausalMutation disease CLINVAR DGAT1 mutation is linked to a congenital diarrheal disorder. 23114594 2012
CUI: C4748579
Disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE
DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE 		0.300 GermlineCausalMutation disease ORPHANET DGAT1 mutation is linked to a congenital diarrheal disorder. 23114594 2012
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.200 Biomarker disease RGD Dysregulation of hepatic fatty acid metabolism in chronic kidney disease. 23045433 2013
CUI: C0042842
Disease: Vitamin A Deficiency
Vitamin A Deficiency 		0.200 Biomarker disease RGD Alterations in the lipid metabolism of rat aorta: effects of vitamin a deficiency. 17047345 2006
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.200 Biomarker group RGD Nephrotic syndrome results in up-regulation of hepatic DGAT-1 expression and activity, which can potentially contribute to the associated hypertriglyceridemia by enhancing triglyceride synthesis. 15200432 2004
CUI: C0033680
Disease: Protein-Losing Enteropathies
Protein-Losing Enteropathies 		0.120 Biomarker group BEFREE DGAT1-deficient patients suffer from vomiting, diarrhea, and protein losing enteropathy, illustrating the importance of this process to intestinal homeostasis. 31315900 2019
CUI: C0033680
Disease: Protein-Losing Enteropathies
Protein-Losing Enteropathies 		0.120 GeneticVariation group BEFREE Recently, a unique syndrome of congenital PLE associated with biallelic mutations in the DGAT1 gene has been reported in a single family. 26883093 2016
CUI: C0033680
Disease: Protein-Losing Enteropathies
Protein-Losing Enteropathies 		0.120 Biomarker group HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.110 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
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.110 Biomarker disease HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease BEFREE Here we report the discovery and characterization of a novel selective DGAT1 inhibitor 29 to potentially treat obesity. 29699923 2018
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease BEFREE Discovery of an Orally Bioavailable Benzimidazole Diacylglycerol Acyltransferase 1 (DGAT1) Inhibitor That Suppresses Body Weight Gain in Diet-Induced Obese Dogs and Postprandial Triglycerides in Humans. 28498655 2017
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease BEFREE Diacylglycerol acyltransferase-1 (DGAT1), a key enzyme in triglyceride (TG) biogenesis, is highly associated with metabolic abnormalities, such as obesity and type 2 diabetes. 26493024 2016
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease BEFREE These cases of DGAT1 deficiency extend the molecular and phenotypic spectrum of PLE, suggesting a re-evaluation of the use of DGAT1 inhibitors for metabolic disorders including obesity and diabetes. 26883093 2016
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease BEFREE Dgat1(-/-) mice exhibit a number of beneficial metabolic effects including reduced obesity and improved insulin sensitivity and no known cardiac dysfunction. 25157099 2014