Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.020 Biomarker disease BEFREE Recent emergence of PAT-1 as a novel therapeutic target for nephrolithiasis warrants detailed understanding of the mechanisms of PAT-1 regulation in health and disease. 31042422 2019
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.020 Biomarker disease BEFREE Recent emergence of PAT-1 as a novel therapeutic target for nephrolithiasis warrants detailed understanding of the mechanisms of PAT-1 regulation in health and disease. 31042422 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE We identified a group of genes (GSTK1, PRDX2, PRDX3 and SLC36A1) that differentiate Luminal B tumors in two clusters and predict survival of patients with Luminal B breast cancers. 29545070 2018
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.020 Biomarker disease BEFREE Intestinal oxalate secretion mediated by anion exchanger SLC26A6 (PAT1) plays a crucial role in limiting net absorption of ingested oxalate, thereby preventing hyperoxaluria and related KS, reflecting the importance of understanding regulation of intestinal oxalate transport. 30020825 2018
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.020 Biomarker disease BEFREE Intestinal oxalate secretion mediated by anion exchanger SLC26A6 (PAT1) plays a crucial role in limiting net absorption of ingested oxalate, thereby preventing hyperoxaluria and related KS, reflecting the importance of understanding regulation of intestinal oxalate transport. 30020825 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE 17q23 amplifications in breast cancer involve the PAT1, RAD51C, PS6K, and SIGma1B genes. 11034073 2000
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		0.010 Biomarker disease BEFREE We measured unidirectional and net fluxes of oxalate across tissues removed from colonized PAT1 and DRA knockout (KO) mice and also across two double knockout (dKO) mouse models with primary hyperoxaluria, type 1 (i.e., deficient in alanine-glyoxylate aminotransferase; AGT KO), including PAT1/AGT dKO and DRA/AGT dKO mice compared to non-colonized mice. 31201468 2020
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.010 AlteredExpression disease BEFREE Increased expression of SLC36A1 reflects two distinct mechanisms: (i) Rb loss, which drives SLC36A1 via reduced suppression of E2f; (ii) fragile X mental retardation syndrome-associated protein 1 overexpression, which promotes SLC36A1 translation and subsequently mTORC1. 31555743 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 GeneticVariation disease BEFREE However the XPC PAT I/I genotype was found to be associated with 3.83-fold increased risk of prostate cancer compared to controls (p = 0.00006; OR 3.83; 95% CI (1.83-8.05)). 30552616 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 GeneticVariation disease BEFREE However the XPC PAT I/I genotype was found to be associated with 3.83-fold increased risk of prostate cancer compared to controls (p = 0.00006; OR 3.83; 95% CI (1.83-8.05)). 30552616 2019
CUI: C0020500
Disease: Hyperoxaluria
Hyperoxaluria 		0.010 Biomarker disease BEFREE Intestinal oxalate secretion mediated by anion exchanger SLC26A6 (PAT1) plays a crucial role in limiting net absorption of ingested oxalate, thereby preventing hyperoxaluria and related KS, reflecting the importance of understanding regulation of intestinal oxalate transport. 30020825 2018
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 AlteredExpression group BEFREE We conclude that ADO inhibits oxalate transport by lowering PAT1 surface expression in C2 cells through signaling pathways including the A<sub>2B</sub> AR, PKC, and phospholipase C. Given higher ADO levels and overexpression of the A<sub>2B</sub> AR in inflammatory bowel disease (IBD), our findings have potential relevance to pathophysiology of IBD-associated hyperoxaluria and related KS. 30020825 2018
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.010 Biomarker group BEFREE We further validated altered gene expression of these specific DMGs contributing to vascular and metabolic diseases (SLC36A1, PTPRN2, CASZ1, IL10), thereby establishing transcriptional effects toward assigning functional significance. 28693373 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE We identified a group of genes (GSTK1, PRDX2, PRDX3 and SLC36A1) that differentiate Luminal B tumors in two clusters and predict survival of patients with Luminal B breast cancers. 29545070 2018
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		0.010 GeneticVariation disease BEFREE We used positron emission tomography (PET) to assess dopaminergic and serotonergic terminal density in three subjects carrying a mutation in the DCT1 gene, two clinically affected with Perry syndrome. 24797316 2014
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		0.010 AlteredExpression disease BEFREE Variable response to butyrate was also observed on SLC26A3 (DRA) and SLC26A6 (PAT1) gene expression in nasal epithelial cells of CLD patients. 24350656 2013
CUI: C1333177
Disease: Lymphoproliferative Disorder of the Skin
Lymphoproliferative Disorder of the Skin 		0.010 AlteredExpression disease BEFREE Variable response to butyrate was also observed on SLC26A3 (DRA) and SLC26A6 (PAT1) gene expression in nasal epithelial cells of CLD patients. 24350656 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 Biomarker group BEFREE Increased dietary fructose intake for several weeks upregulated the expression of NHE3, PAT1 and Glut5 in the intestine and resulted in hypertension in wild-type mice, a response that was almost abolished in PAT1 null mice and abrogated in Glut5 null mice. 21143427 2011
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.010 AlteredExpression group BEFREE XMRV provirus integration sites were mapped in DNA isolated from human prostate tumor tissue to genes for two transcription factors (NFATc3 and CREB5) and to a gene encoding a suppressor of androgen receptor transactivation (APPBP2/PAT1/ARA67). 17234809 2007
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.010 AlteredExpression disease BEFREE HFE deficiency in intestinal crypt cells is thought to cause intestinal iron deficiency and greater expression of iron transporters such as SLC11A2 (also called DMT1, DCT1 and NRAMP2) and SLC11A3 (also called IREG1, ferroportin and MTP1; ref.3). 12704390 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE 17q23 amplifications in breast cancer involve the PAT1, RAD51C, PS6K, and SIGma1B genes. 11034073 2000