SLC52A1, solute carrier family 52 member 1, 55065

N. diseases: 160; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035528
Disease: Riboflavin Deficiency
Riboflavin Deficiency
0.610 Biomarker disease CLINGEN An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. 29122468 2017
CUI: C0035528
Disease: Riboflavin Deficiency
Riboflavin Deficiency
0.610 GeneticVariation disease BEFREE Genetic defects of the riboflavin transport have been detected in Brown-Vialetto-Van Laere and Fazio-Londe syndromes (C20orf54), and haploinsufficiency of GPR172B has been proposed in one patient to cause persistent riboflavin deficiency. 22231380 2012
CUI: C0035528
Disease: Riboflavin Deficiency
Riboflavin Deficiency
0.610 Biomarker disease CLINGEN Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. 21089064 2011
CUI: C0035528
Disease: Riboflavin Deficiency
Riboflavin Deficiency
0.610 Biomarker disease GENOMICS_ENGLAND Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. 21089064 2011
CUI: C0035528
Disease: Riboflavin Deficiency
Riboflavin Deficiency
0.610 GermlineCausalMutation disease ORPHANET Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. 21089064 2011
CUI: C0035528
Disease: Riboflavin Deficiency
Riboflavin Deficiency
0.610 Biomarker disease CLINGEN Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain. 20463145 2010
CUI: C0035528
Disease: Riboflavin Deficiency
Riboflavin Deficiency
0.610 Biomarker disease CLINGEN Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1. 18632736 2008
CUI: C0035528
Disease: Riboflavin Deficiency
Riboflavin Deficiency
0.610 GermlineCausalMutation disease ORPHANET Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. 17689999 2007
CUI: C0035528
Disease: Riboflavin Deficiency
Riboflavin Deficiency
0.610 Biomarker disease CTD_human
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE In conclusion, tryptase activated EPCs via PAR-2-mediated AKT and ERK signaling pathway activation, thereby enhancing angiogenesis in breast cancer. 30008831 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE PAR2 and G-CSF were significantly more expressed in metastatic (4T1 and MDA-MB-231) as compared to non-metastatic (67NR and MCF7) breast cancer cell lines. 30172372 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 AlteredExpression disease BEFREE In conclusion, tryptase activated EPCs via PAR-2-mediated AKT and ERK signaling pathway activation, thereby enhancing angiogenesis in breast cancer. 30008831 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 AlteredExpression disease BEFREE PAR2 and G-CSF were significantly more expressed in metastatic (4T1 and MDA-MB-231) as compared to non-metastatic (67NR and MCF7) breast cancer cell lines. 30172372 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE PAR2 belongs to the superfamily of GPCRs and is an important target for breast cancer. 25386994 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE PAR2 belongs to the superfamily of GPCRs and is an important target for breast cancer. 25386994 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Mammalian protease-activated-receptor-1 and -2 (PAR1 and PAR2) are activated by proteases found in the flexible microenvironment of a tumor and play a central role in breast cancer. 24177339 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE Mammalian protease-activated-receptor-1 and -2 (PAR1 and PAR2) are activated by proteases found in the flexible microenvironment of a tumor and play a central role in breast cancer. 24177339 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Breast cancer growth is suppressed by inhibition of TF-mediated PAR2 signaling, and deficiency in PAR2 delays spontaneous breast cancer development in mice. 23287882 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE Breast cancer growth is suppressed by inhibition of TF-mediated PAR2 signaling, and deficiency in PAR2 delays spontaneous breast cancer development in mice. 23287882 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE These results begin to delineate the mechanism by which thrombin activates a PAR-1/PAR-2 complex to induce PAI-1 expression in the 4T1 murine breast cancer cell line. 21799402 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Emerging evidence has implicated G protein-coupled receptors, such as CXCR4 and PAR2, in breast cancer progression and the development of metastatic breast cancer. 21318602 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 AlteredExpression disease BEFREE These results begin to delineate the mechanism by which thrombin activates a PAR-1/PAR-2 complex to induce PAI-1 expression in the 4T1 murine breast cancer cell line. 21799402 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE Emerging evidence has implicated G protein-coupled receptors, such as CXCR4 and PAR2, in breast cancer progression and the development of metastatic breast cancer. 21318602 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE To address the contributions of PAR1 and PAR2 to breast cancer development, we established cohorts of mouse mammary tumor virus-polyoma middle T (PyMT) PAR1(-/-) and PAR2(-/-) mice, considering that the PyMT model recapitulates aspects of human disease. 18757438 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE To address the contributions of PAR1 and PAR2 to breast cancer development, we established cohorts of mouse mammary tumor virus-polyoma middle T (PyMT) PAR1(-/-) and PAR2(-/-) mice, considering that the PyMT model recapitulates aspects of human disease. 18757438 2008