SLC5A6, solute carrier family 5 member 6, 8884

N. diseases: 37; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma
0.010 Biomarker disease BEFREE Biotin supply affects rates of cell proliferation, biotinylation of carboxylases and histones, and expression of the gene encoding the sodium-dependent multivitamin transporter in JAr choriocarcinoma cells. 14991266 2004
Precursor cell lymphoblastic lymphoma
0.010 AlteredExpression disease BEFREE Sodium-dependent multivitamin transporter gene is regulated at the chromatin level by histone biotinylation in human Jurkat lymphoblastoma cells. 19056636 2009
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 Biomarker disease BEFREE Biotinylated PAMAM dendrimers for intracellular delivery of cisplatin to ovarian cancer: role of SMVT. 21498711 2011
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 Biomarker disease BEFREE Biotinylated PAMAM dendrimers for intracellular delivery of cisplatin to ovarian cancer: role of SMVT. 21498711 2011
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 Biomarker disease BEFREE Biotinylated PAMAM dendrimers for intracellular delivery of cisplatin to ovarian cancer: role of SMVT. 21498711 2011
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.010 AlteredExpression disease BEFREE This work demonstrated for the first time the higher expression and affinity of FR-α, SMVT, and B ((0, +)) mRNA levels in retinoblastoma (Y-79) cells compared with retinal pigment epithelial (ARPE-19) cells. 22304562 2012
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.100 GeneticVariation disease GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
CUI: C0018099
Disease: Gout
Gout
0.100 GeneticVariation disease GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 AlteredExpression disease BEFREE Quantitative real time PCR analysis was also performed to compare the relative expression of SMVT in T47D and MCF-12A cells. 23142496 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 AlteredExpression disease BEFREE Quantitative real time PCR analysis was also performed to compare the relative expression of SMVT in T47D and MCF-12A cells. 23142496 2013
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement
0.100 GeneticVariation phenotype GWASCAT Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. 25625282 2015
CUI: C0268680
Disease: Biotin deficiency
Biotin deficiency
0.020 GeneticVariation disease BEFREE Utilizing a conditional (intestinal-specific) knockout (cKO) mouse model, we have recently shown that the sodium-dependent multivitamin transporter (SMVT) (SLC5A6) is the only biotin uptake system that operates in the gut and that its deletion leads to biotin deficiency. 27492331 2016
CUI: C2937225
Disease: Biotin deficiency disease
Biotin deficiency disease
0.020 GeneticVariation disease BEFREE Utilizing a conditional (intestinal-specific) knockout (cKO) mouse model, we have recently shown that the sodium-dependent multivitamin transporter (SMVT) (SLC5A6) is the only biotin uptake system that operates in the gut and that its deletion leads to biotin deficiency. 27492331 2016
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.010 GeneticVariation disease BEFREE No relation to risk was found.Three SNPs were associated with CRPC prognosis in Caucasians: ABCB11 rs7602171G>A (p = 0.003; n = 30; hazard ratio [HR]: 0.307), GSTP1 rs1799811C>T (p = 0.001; n = 38; HR: 0.254) and SLC5A6 rs1395 (p = 0.004; n = 35; HR: 3.15). 27883295 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.300 Biomarker disease GENOMICS_ENGLAND Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. 27904971 2017
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. 27904971 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. 27904971 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.300 Biomarker disease GENOMICS_ENGLAND Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. 27904971 2017
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.300 Biomarker disease GENOMICS_ENGLAND Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects. 29669219 2018
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage
0.300 Biomarker phenotype GENOMICS_ENGLAND Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects. 29669219 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.300 Biomarker disease GENOMICS_ENGLAND Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects. 29669219 2018
CUI: C0029453
Disease: Osteopenia
Osteopenia
0.300 Biomarker disease GENOMICS_ENGLAND Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects. 29669219 2018
CUI: C0036572
Disease: Seizures
Seizures
0.300 Biomarker phenotype GENOMICS_ENGLAND Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects. 29669219 2018
CUI: C0042963
Disease: Vomiting
Vomiting
0.300 Biomarker phenotype GENOMICS_ENGLAND Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects. 29669219 2018
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.300 Biomarker phenotype GENOMICS_ENGLAND Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects. 29669219 2018