Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8694
Gene Symbol: DGAT1
DGAT1
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
Entrez Id: 8694
Gene Symbol: DGAT1
DGAT1
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
Entrez Id: 8694
Gene Symbol: DGAT1
DGAT1
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
Entrez Id: 8694
Gene Symbol: DGAT1
DGAT1
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
Entrez Id: 8694
Gene Symbol: DGAT1
DGAT1
0.440 Biomarker phenotype CTD_human
Entrez Id: 8694
Gene Symbol: DGAT1
DGAT1
0.440 Biomarker phenotype HPO
Entrez Id: 2984
Gene Symbol: GUCY2C
GUCY2C
0.430 Biomarker phenotype BEFREE Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea. 30353760 2019
Entrez Id: 2984
Gene Symbol: GUCY2C
GUCY2C
0.430 GeneticVariation phenotype BEFREE Prolonged intestinal transit and diarrhea in patients with an activating GUCY2C mutation. 28957388 2017
Entrez Id: 2984
Gene Symbol: GUCY2C
GUCY2C
0.430 Biomarker phenotype CTD_human Familial diarrhea syndrome caused by an activating GUCY2C mutation. 22436048 2012
Entrez Id: 2984
Gene Symbol: GUCY2C
GUCY2C
0.430 Biomarker phenotype BEFREE Because GUCY2C heterozygous and homozygous mutant mice are resistant to E. coli STa enterotoxin-induced diarrhea, it is plausible that GUCY2C mutations in the desert-dwelling Bedouin kindred are of selective advantage. 22521417 2012
Entrez Id: 2984
Gene Symbol: GUCY2C
GUCY2C
0.430 Biomarker phenotype HPO
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
0.410 Biomarker phenotype BEFREE MYO5B deficiency appears to impair targeting of BSEP to the canalicular membrane with hampered bile acid excretion, resulting in a spectrum of cholestasis without diarrhea.(Hepatology 2017;65:1655-1669). 28027573 2017
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
0.410 Biomarker phenotype CTD_human MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 18724368 2008
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
0.410 Biomarker phenotype HPO
Entrez Id: 6550
Gene Symbol: SLC9A3
SLC9A3
0.390 Biomarker phenotype BEFREE Enterotoxigenic <i>Escherichia coli</i> (ETEC) is a leading cause of childhood death from diarrhea and the leading cause of Traveler's diarrhea.<i>E. coli</i> heat-stable enterotoxin (ST) is a major virulence factor of ETEC and inhibits the brush border Na/H exchanger NHE3 in producing diarrhea. 31365292 2019
Entrez Id: 6550
Gene Symbol: SLC9A3
SLC9A3
0.390 AlteredExpression phenotype BEFREE Reduced NHE3 expression or function has been implicated in the pathogenesis of diarrhea associated with inflammatory bowel disease (IBD) or enteric infections. 28882825 2018
Entrez Id: 6550
Gene Symbol: SLC9A3
SLC9A3
0.390 Biomarker phenotype BEFREE Er Shen Wan extract reduces diarrhea and regulates AQP 4 and NHE 3 in a rat model of spleen-kidney Yang deficiency-induced diarrhea. 29571254 2018
Entrez Id: 6550
Gene Symbol: SLC9A3
SLC9A3
0.390 Biomarker phenotype BEFREE Na<sup>+</sup>/H<sup>+</sup> exchanger-3 (NHE3) is crucial for intestinal Na<sup>+</sup> absorption, and its reduction has been implicated in infectious and inflammatory bowel diseases (IBD)-associated diarrhea. 29167115 2018
Entrez Id: 6550
Gene Symbol: SLC9A3
SLC9A3
0.390 Biomarker phenotype BEFREE Studies have shown that a decrease in both NHE3 (Na<sup>+</sup>/H<sup>+</sup> exchanger) and DRA (downregulated in adenoma, Cl<sup>-</sup>/[Formula: see text] exchanger), resulting in decreased electrolyte absorption, is implicated in infectious and inflammatory diarrhea. 29597352 2018
Entrez Id: 6550
Gene Symbol: SLC9A3
SLC9A3
0.390 Biomarker phenotype BEFREE Furthermore, they support the notion that mislocalization of transporters, such as NHE3 substantially contributes to the reported sodium loss diarrhea. 28407399 2017
Entrez Id: 6550
Gene Symbol: SLC9A3
SLC9A3
0.390 Biomarker phenotype CTD_human Role of the Na+/H+ exchanger 3 in angiotensin II-induced hypertension in NHE3-deficient mice with transgenic rescue of NHE3 in small intestines. 26564064 2015
Entrez Id: 6550
Gene Symbol: SLC9A3
SLC9A3
0.390 AlteredExpression phenotype BEFREE It was shown that the expression levels of NHE3 and AQP4 were significantly increased in the diarrhoea mice treated with berberine compared with the untreated diarrhoea mice. 22668974 2012
Entrez Id: 6550
Gene Symbol: SLC9A3
SLC9A3
0.390 AlteredExpression phenotype BEFREE α-MD-G normalized NHE3 activity after cholera toxin-induced diarrhea. 20977906 2011
Entrez Id: 6550
Gene Symbol: SLC9A3
SLC9A3
0.390 Biomarker phenotype BEFREE These findings suggest functional NHE3 transport as a novel factor for inflammatory diarrhea in UC patients. 20027604 2010
Entrez Id: 3552
Gene Symbol: IL1A
IL1A
0.310 Biomarker phenotype BEFREE In SMP30 deficient mice, colitis was significantly exacerbated as demonstrated by increased mortality (p = 0.001), body weight loss (p = 0.0105 at day 8), rectal bleeding (p = 0.0047 at day 8) and diarrhea (p = 0.0030 at day 8), histological scores (ulcers, p = 0.0002; edema, p = 0.0125; leukocyte infiltration, p = 0.0016) and productions of pro-inflammatory cytokines (IL-1α, p = 0.0452; IL-6, p = 0.0074; G-CSF, p = 0.0036). 30266650 2018