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: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		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: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		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: C0557874
Disease: Global developmental delay
Global developmental delay 		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: C1836830
Disease: Developmental regression
Developmental regression 		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: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		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: C1855755
Disease: Abnormal immunoglobulin level
Abnormal immunoglobulin level 		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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group 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: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		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: C0023418
Disease: leukemia
leukemia 		0.010 AlteredExpression disease BEFREE The main transporter for biotin is sodium dependent multivitamin transporter (SMVT), which is overexpressed in various aggressive cancer cell lines such as ovarian (OV 2008, ID8), leukemia (L1210FR), mastocytoma (P815), colon (Colo-26), breast (4T1, JC, MMT06056), renal (RENCA, RD0995), and lung (M109) cancer cell lines. 29324341 2018
CUI: C0024897
Disease: Mastocytoma
Mastocytoma 		0.010 AlteredExpression disease BEFREE The main transporter for biotin is sodium dependent multivitamin transporter (SMVT), which is overexpressed in various aggressive cancer cell lines such as ovarian (OV 2008, ID8), leukemia (L1210FR), mastocytoma (P815), colon (Colo-26), breast (4T1, JC, MMT06056), renal (RENCA, RD0995), and lung (M109) cancer cell lines. 29324341 2018
CUI: C0334664
Disease: Mast Cell Neoplasm
Mast Cell Neoplasm 		0.010 AlteredExpression disease BEFREE The main transporter for biotin is sodium dependent multivitamin transporter (SMVT), which is overexpressed in various aggressive cancer cell lines such as ovarian (OV 2008, ID8), leukemia (L1210FR), mastocytoma (P815), colon (Colo-26), breast (4T1, JC, MMT06056), renal (RENCA, RD0995), and lung (M109) cancer cell lines. 29324341 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 AlteredExpression disease BEFREE The main transporter for biotin is sodium dependent multivitamin transporter (SMVT), which is overexpressed in various aggressive cancer cell lines such as ovarian (OV 2008, ID8), leukemia (L1210FR), mastocytoma (P815), colon (Colo-26), breast (4T1, JC, MMT06056), renal (RENCA, RD0995), and lung (M109) cancer cell lines. 29324341 2018
CUI: C2242987
Disease: Benign Mastocytoma
Benign Mastocytoma 		0.010 AlteredExpression disease BEFREE The main transporter for biotin is sodium dependent multivitamin transporter (SMVT), which is overexpressed in various aggressive cancer cell lines such as ovarian (OV 2008, ID8), leukemia (L1210FR), mastocytoma (P815), colon (Colo-26), breast (4T1, JC, MMT06056), renal (RENCA, RD0995), and lung (M109) cancer cell lines. 29324341 2018
CUI: C0268680
Disease: Biotin deficiency
Biotin deficiency 		0.020 GeneticVariation disease BEFREE We have previously shown that mice with an embryonic intestinal-specific SMVT knockout (KO) develop biotin deficiency and severe spontaneous intestinal inflammation in addition to growth retardation, developmental delays, and death within the first 6-7 wk of life. 31369292 2019
CUI: C2937225
Disease: Biotin deficiency disease
Biotin deficiency disease 		0.020 GeneticVariation disease BEFREE We have previously shown that mice with an embryonic intestinal-specific SMVT knockout (KO) develop biotin deficiency and severe spontaneous intestinal inflammation in addition to growth retardation, developmental delays, and death within the first 6-7 wk of life. 31369292 2019