Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.300 GeneticVariation disease UNIPROT
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.200 Biomarker disease CTD_mouse Drug transporters are altered in brain, liver and kidney of rats with chronic epilepsy induced by lithium-pilocarpine. 19570321 2010
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
0.200 Biomarker disease CTD_mouse Drug transporters are altered in brain, liver and kidney of rats with chronic epilepsy induced by lithium-pilocarpine. 19570321 2010
CUI: C0236018
Disease: Aura
Aura
0.200 Biomarker phenotype CTD_mouse Drug transporters are altered in brain, liver and kidney of rats with chronic epilepsy induced by lithium-pilocarpine. 19570321 2010
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
0.200 Biomarker disease CTD_mouse Drug transporters are altered in brain, liver and kidney of rats with chronic epilepsy induced by lithium-pilocarpine. 19570321 2010
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.120 Biomarker disease BEFREE Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci. 29986742 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.120 GeneticVariation disease GWASCAT Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases. 30089514 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.120 GeneticVariation disease BEFREE We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. 22685416 2012
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.120 GeneticVariation disease GWASCAT Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. 21685912 2011
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.120 GeneticVariation disease GWASDB Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. 21685912 2011
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.100 GeneticVariation phenotype GWASDB Genome-wide association meta-analysis for total serum bilirubin levels. 19414484 2009
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.100 GeneticVariation phenotype GWASDB Genome-wide association meta-analysis for total serum bilirubin levels. 19414484 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 AlteredExpression disease BEFREE Previously published studies from our laboratory demonstrated that OATP1A2 expression was upregulated in breast cancer MCF7 cells after X-ray irradiation and the transport of its substrate methotrexate was increased. 28388363 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 AlteredExpression disease BEFREE Interestingly, some studies show that the mRNA expression of OATP1A2 is nearly 10-fold higher in breast cancer compared with adjacent healthy breast tissues. 25924632 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 GeneticVariation disease BEFREE High-throughput pharmacogenetics identifies SLCO1A2 polymorphisms as candidates to elucidate the risk of febrile neutropenia in the breast cancer RAPP-01 trial. 26318989 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 Biomarker disease BEFREE Since estrogen and estrogen metabolites as well as anticancer agents are substrates for OATPs these results indicate the possibility of OATP-mediated uptake of hormones during breast cancer development and an impact of certain OATPs on chemotherapeutic cancer treatment. 21278488 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 Biomarker disease BEFREE Altered expression of organic anion transporter polypeptide (OATP) genes in human breast carcinoma. 18948755 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 AlteredExpression disease BEFREE Immunohistochemistry revealed exclusive expression of OATP1A2 in breast cancer tissue. 19010908 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 Biomarker disease BEFREE Expression of the steroid and xenobiotic receptor and its possible target gene, organic anion transporting polypeptide-A, in human breast carcinoma. 16397270 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.050 AlteredExpression disease BEFREE Previously published studies from our laboratory demonstrated that OATP1A2 expression was upregulated in breast cancer MCF7 cells after X-ray irradiation and the transport of its substrate methotrexate was increased. 28388363 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.050 AlteredExpression disease BEFREE Interestingly, some studies show that the mRNA expression of OATP1A2 is nearly 10-fold higher in breast cancer compared with adjacent healthy breast tissues. 25924632 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.050 GeneticVariation disease BEFREE High-throughput pharmacogenetics identifies SLCO1A2 polymorphisms as candidates to elucidate the risk of febrile neutropenia in the breast cancer RAPP-01 trial. 26318989 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.050 Biomarker disease BEFREE Since estrogen and estrogen metabolites as well as anticancer agents are substrates for OATPs these results indicate the possibility of OATP-mediated uptake of hormones during breast cancer development and an impact of certain OATPs on chemotherapeutic cancer treatment. 21278488 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.050 AlteredExpression disease BEFREE Immunohistochemistry revealed exclusive expression of OATP1A2 in breast cancer tissue. 19010908 2008