Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 Biomarker disease BEFREE In summary, we propose RCC1 as a likely breast cancer susceptibility gene in the Tunisian population. 29363114 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 Biomarker disease BEFREE In summary, we propose RCC1 as a likely breast cancer susceptibility gene in the Tunisian population. 29363114 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 Biomarker disease BEFREE In this study, we found that estrogen receptor β (ERβ) was more highly expressed in RCC cell lines (A498, RCC-1, 786-O, ACHN, and Caki-1) than in breast cancer cell lines (MCF-7 and HBL-100); however, no androgen receptor (AR) or estrogen receptor α (ERα) could be detected by western blot. 23460808 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 Biomarker disease BEFREE In this study, we found that estrogen receptor β (ERβ) was more highly expressed in RCC cell lines (A498, RCC-1, 786-O, ACHN, and Caki-1) than in breast cancer cell lines (MCF-7 and HBL-100); however, no androgen receptor (AR) or estrogen receptor α (ERα) could be detected by western blot. 23460808 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 Biomarker disease BEFREE Cell cycle regulatory protein 5 (Cdk5) is a novel downstream target of ERK in carboplatin induced death of breast cancer cells. 19075597 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 Biomarker disease BEFREE Cell cycle regulatory protein 5 (Cdk5) is a novel downstream target of ERK in carboplatin induced death of breast cancer cells. 19075597 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 Biomarker disease BEFREE The RCC-1-defined antigen detects a novel breast cancer associated antigen. 1699883 1990
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 Biomarker disease BEFREE The RCC-1-defined antigen detects a novel breast cancer associated antigen. 1699883 1990
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa
0.030 GeneticVariation disease BEFREE The cilia-expressed gene RPGR (retinitis pigmentosa GTPase regulator) is mutated in patients with X-linked retinitis pigmentosa (XLRP) and encodes multiple protein isoforms with a common N-terminal domain homologous to regulator of chromosome condensation 1 (RCC1), a guanine nucleotide exchange factor (GEF) for Ran GTPase. 20631154 2010
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa
0.030 GeneticVariation disease BEFREE Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. 8817343 1996
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa
0.030 GeneticVariation disease BEFREE A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). 8673101 1996
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE Novel Ran-RCC1 Inhibitory Peptide-Loaded Nanoparticles Have Anti-Cancer Efficacy In Vitro and In Vivo. 30769871 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 Biomarker group BEFREE Novel Ran-RCC1 Inhibitory Peptide-Loaded Nanoparticles Have Anti-Cancer Efficacy In Vitro and In Vivo. 30769871 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE All results demonstrated that Latcripin-4 RCC1 and ANK domain protein can inhibit the growth of human HepG2 liver cancer cells, which brings new insights to identifying antitumor proteins from medicinal food for cancer therapy. 30806297 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 Biomarker group BEFREE All results demonstrated that Latcripin-4 RCC1 and ANK domain protein can inhibit the growth of human HepG2 liver cancer cells, which brings new insights to identifying antitumor proteins from medicinal food for cancer therapy. 30806297 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 AlteredExpression group BEFREE Furthermore, an association between RCC1 expression and clinicopathological features showed that RCC1 expression was closely correlated with tumor differentiation and depth of invasion (P < 0.05). 26823742 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.020 GeneticVariation disease BEFREE The cilia-expressed gene RPGR (retinitis pigmentosa GTPase regulator) is mutated in patients with X-linked retinitis pigmentosa (XLRP) and encodes multiple protein isoforms with a common N-terminal domain homologous to regulator of chromosome condensation 1 (RCC1), a guanine nucleotide exchange factor (GEF) for Ran GTPase. 20631154 2010
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.020 Biomarker disease LHGDN Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family. 16052169 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE Among 23 mice given injections of RCC-1 cells containing this YAC, 16 (70%) remained tumor free for at least 6 months, whereas tumor formation occurred after a median of 6 weeks in control mice given injections of either RCC-1 parental cells or a revertant cell line (in which the YAC had lost all human sequences) or RCC-1 parental cells containing other, unrelated YACs. 10491433 1999
CUI: C1845667
Disease: RETINITIS PIGMENTOSA 3
RETINITIS PIGMENTOSA 3
0.020 GeneticVariation disease BEFREE A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). 8673101 1996
CUI: C1845667
Disease: RETINITIS PIGMENTOSA 3
RETINITIS PIGMENTOSA 3
0.020 GeneticVariation disease BEFREE Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. 8817343 1996
Infection by Cryptococcus neoformans
0.010 Biomarker disease BEFREE Additionally, C. neoformans strains lacking Chc1, Las17, Rvs161, or Rvs167 were defective in the elaboration of several key virulence factors, and a las17 mutant was avirulent in a mouse model of cryptococcosis. 30291809 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 Biomarker group BEFREE Furthermore, little is known about the relationship between RCC1 and carcinomas. 29789527 2018
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.010 GeneticVariation disease BEFREE In the present study, we performed whole-exome sequencing on 10 tissue samples of metastases of RAI-refractory differentiated thyroid cancers and identified a recurrent hot-spot mutation (c.1924G>T) in the <i>RasGRP3</i> gene, which codes for Ras guanine nucleotide-releasing protein 3. 30323976 2018