Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.800 Biomarker disease CTD_human
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.800 CausalMutation disease CLINVAR
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.800 GeneticVariation disease BEFREE Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene. 22843301 2013
Entrez Id: 3087
Gene Symbol: HHEX
HHEX
0.010 Biomarker disease BEFREE HHEX and PROX1 play significant roles in carbohydrate intolerance and diabetes because these transcription factors may be involved in the regulation of insulin secretion and in glucose and lipid metabolism. 27684496 2017
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.800 GeneticVariation disease BEFREE SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption. 28753187 2018
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.800 GeneticVariation disease UNIPROT A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein. 11406349 2001
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.800 GeneticVariation disease BEFREE A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein. 11406349 2001
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.010 Biomarker disease BEFREE A novel double inversion recovery sequence that suppresses CSF and GM signal was used (GM-double inversion recovery). 29700044 2018
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.010 Biomarker disease BEFREE A novel double inversion recovery sequence that suppresses CSF and GM signal was used (GM-double inversion recovery). 29700044 2018
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.800 GeneticVariation disease UNIPROT An SGLT1 missense mutation underlies hereditary glucose/galactose malabsorption, characterized by potentially fatal diarrhea; conversely, oral rehydration therapy exploits normal transport to alleviate life-threatening diarrhea of infectious origin. 8195156 1994
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
0.020 GeneticVariation disease BEFREE As a consequence, mutations in the SLC5A1 gene cause glucose/galactose malabsorption, whereas mutations in SLC5A2 are associated with glucosuria. 30132033 2018
Entrez Id: 2688
Gene Symbol: GH1
GH1
0.010 Biomarker disease BEFREE Diabetic ketoacidosis as a rare complication of GH therapy emphasizes the importance of screening for carbohydrate intolerance before and during GH treatment in patients with Prader-Willi syndrome. 15112913 2004
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.800 Biomarker disease BEFREE Effects associated with the loss of SGLT1 on pancreatic islet (cyto) morphology and function were investigated by analyzing islets of a SGLT1 knockout mouse model, that were fed a glucose-deficient, fat-enriched diet (SGLT1<sup>-/-</sup>-GDFE) to circumvent the glucose-galactose malabsorption syndrome. 29859847 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.010 Biomarker disease BEFREE Further studies are needed to confirm our proposal that the p53 status of GM tumors can be used to guide our choice of fractionation schemes. 10030268 1999
Entrez Id: 5629
Gene Symbol: PROX1
PROX1
0.010 Biomarker disease BEFREE HHEX and PROX1 play significant roles in carbohydrate intolerance and diabetes because these transcription factors may be involved in the regulation of insulin secretion and in glucose and lipid metabolism. 27684496 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.010 Biomarker disease BEFREE In 41 B27+ AAU patients with AS the alpha 1-antitrypsin and Gm phenotype and allotype frequencies were not statistically different from those in B27+ AS patients developing AAU and in B27+ AAU patients without AS, in B27+ AS patients without AAU, B27+ patients with Reiter's syndrome, B27+ patients with low back pain, B27- AAU patients and normal controls. 3498603 1987
Entrez Id: 3929
Gene Symbol: LBP
LBP
0.010 AlteredExpression disease BEFREE In addition, GGM significantly increased the levels of butyric acid and caproic acid, and reduced the levels of LBP in serum. 30256506 2019
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.800 GeneticVariation disease BEFREE In the intestine, uptake of dietary glucose is for its majority mediated by SGLT1, and humans with mutations in the SGLT1 gene show glucose/galactose malabsorption. 31081587 2019
Entrez Id: 929
Gene Symbol: CD14
CD14
0.010 AlteredExpression disease BEFREE Interestingly, AML-193 cells induced with D3 and RA displayed a typical neutrophilic morphology while exhibiting properties specific to monocytic cells, e.g., high expression of CD14 membrane antigen, capacity to bind bacterial lipopolysaccharide, and monocytic-specific esterase activity; this hybrid granulomonocytic (GM) phenotype was not observed upon initial incubation with one inducer and later addition of the other. 7647032 1995
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.800 AlteredExpression disease BEFREE It also considers congenital defects of sugar metabolism caused by aberrant expression of the SGLT1 in glucose-galactose malabsorption and the SGLT2 in familial renal glycosuria. 21049241 2010
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
0.020 AlteredExpression disease BEFREE It also considers congenital defects of sugar metabolism caused by aberrant expression of the SGLT1 in glucose-galactose malabsorption and the SGLT2 in familial renal glycosuria. 21049241 2010
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.800 GeneticVariation disease BEFREE Loss-of-function mutations in the SGLT1 (sodium/glucose co-transporter-1) gene result in a rare glucose/galactose malabsorption disorder and neonatal death if untreated. 30286918 2018
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.800 GeneticVariation disease BEFREE Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects. 10036327 1999
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.800 GeneticVariation disease UNIPROT Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects. 10036327 1999