Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 AlteredExpression group BEFREE Male, but not female, SART1(+/-) mice showed significant up-regulation of HIF-1α in circulating and liver-infiltrating immune cells, but not in hepatocytes, before development of malignancy. 26799785 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 AlteredExpression group BEFREE Male, but not female, SART1(+/-) mice showed significant up-regulation of HIF-1α in circulating and liver-infiltrating immune cells, but not in hepatocytes, before development of malignancy. 26799785 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 AlteredExpression group BEFREE The results indicate that hypoxia leads to the elevation of HAF plus activation of the NF-κB pathway, accompanied by the switch of HIF-1α to HIF-2α, resulting in the enhanced ability of malignancy in T24 cells. 24316875 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE These findings demonstrate a prominent role for the spliceosome in mediating Mcl1 activity and suggest that drugs that target either the specific UBL5/PRPF8/SART1 subcomplex or SF3b functions may have a role as cancer therapeutics by attenuating the Mcl1 survival bias present in numerous cancers. 24556687 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE These findings demonstrate a prominent role for the spliceosome in mediating Mcl1 activity and suggest that drugs that target either the specific UBL5/PRPF8/SART1 subcomplex or SF3b functions may have a role as cancer therapeutics by attenuating the Mcl1 survival bias present in numerous cancers. 24556687 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 AlteredExpression group BEFREE The results indicate that hypoxia leads to the elevation of HAF plus activation of the NF-κB pathway, accompanied by the switch of HIF-1α to HIF-2α, resulting in the enhanced ability of malignancy in T24 cells. 24316875 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE HAF, thus, switches the hypoxic response of the cancer cell from HIF-1α-dependent to HIF-2α-dependent transcription and activates genes involved in invasion such as MMP9, PAI-1, and the stem cell factor OCT-3/4. 21512133 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE HAF, thus, switches the hypoxic response of the cancer cell from HIF-1α-dependent to HIF-2α-dependent transcription and activates genes involved in invasion such as MMP9, PAI-1, and the stem cell factor OCT-3/4. 21512133 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE These results show that SART-1 gene transduction induces cell cycle arrest leading to apoptosis and suggest the possibility of gene therapy against cancer. 16158934 2005
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE These results show that SART-1 gene transduction induces cell cycle arrest leading to apoptosis and suggest the possibility of gene therapy against cancer. 16158934 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 AlteredExpression group BEFREE Moreover, while HIF-1α, HIF-2α and HAF expression was heterogenous within tumors, we observed and confirmed that HIF-2α co-localized with HAF. 29481555 2018
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 Biomarker disease BEFREE HAF mediates the evasive resistance of anti-angiogenesis TKI through disrupting HIF-1α and HIF-2α balance in renal cell carcinoma. 28572533 2017
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 Biomarker disease BEFREE Our data indicate that mutant VHL can protect HIF1α from SART1-dependent degradation in normoxic conditions, but this protection is lost in hypoxic settings, favoring hypoxia-dependent ccRCC proliferation. 25915846 2016
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 Biomarker disease BEFREE Taken together, our results show that HAF is a specific mediator of HIF2 activation that is critical for CRCC development and morbidity. 25421578 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 GeneticVariation disease BEFREE Particularly, the breast cancer associated allele of rs660118 SNP in the gene SART1 showed a near doubled frequency in glioblastoma patients, as verified in an independent control cohort by Sanger sequencing. 21695249 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 AlteredExpression group BEFREE The switch to HIF-2α-dependent gene expression caused by HAF also promotes an enriched tumor stem cell population, resulting in highly aggressive tumors in vivo. 21512133 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation disease BEFREE Particularly, the breast cancer associated allele of rs660118 SNP in the gene SART1 showed a near doubled frequency in glioblastoma patients, as verified in an independent control cohort by Sanger sequencing. 21695249 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 GeneticVariation disease BEFREE The observed associations between breast cancer risk and genetic variation in the SART1 and EIF3A genes that are required for maintenance of normal mitosis suggest a direct role for these genes in the development of breast cancer. 19377877 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation disease BEFREE The observed associations between breast cancer risk and genetic variation in the SART1 and EIF3A genes that are required for maintenance of normal mitosis suggest a direct role for these genes in the development of breast cancer. 19377877 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 Biomarker disease BEFREE The SART-1(800)+ breast cancer cells transfected with HLA-A2601 or HLA-A2402 cDNA were recognized by the HLA-A26-restricted and SART-1-specific cytotoxic T lymphocytes (CTLs) or the HLA-A24-restricted and SART-1-specific CTLs, respectively. 9935232 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 GeneticVariation group BEFREE Among the 20 SART-1(800)+ tumors, 9 or 8 tumors expressed estrogen receptor or progesterone receptor, respectively. 9935232 1999
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 Biomarker disease BEFREE The SART-1(800)+ breast cancer cells transfected with HLA-A2601 or HLA-A2402 cDNA were recognized by the HLA-A26-restricted and SART-1-specific cytotoxic T lymphocytes (CTLs) or the HLA-A24-restricted and SART-1-specific CTLs, respectively. 9935232 1999
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.010 AlteredExpression disease BEFREE Patients with ccRCC with high HAF transcript or protein levels showed significantly decreased overall survival compared with those with low HAF. 30705246 2019
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.010 AlteredExpression disease BEFREE Patients with ccRCC with high HAF transcript or protein levels showed significantly decreased overall survival compared with those with low HAF. 30705246 2019