Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.010 GeneticVariation disease BEFREE A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8. 22899815 2012
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
0.010 Biomarker group BEFREE A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8. 22899815 2012
CUI: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part
0.010 Biomarker disease BEFREE A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8. 22899815 2012
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: 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 AlteredExpression disease BEFREE Although CHC1-L is not the obvious candidate given its only known homology, to RCC1, a guanine nucleotide exchange factor for the Ras-related GTPase Ran, the frequent significant decrease observed in its expression in prostate cancer associated with the difference in frequency of CHC1-L variant isoforms between normal and neoplastic prostate tissues places it in a pivotal role or possibly adjacent to a gene that has that role in prostate cancer evolution. 12115502 2002
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 AlteredExpression disease BEFREE Although CHC1-L is not the obvious candidate given its only known homology, to RCC1, a guanine nucleotide exchange factor for the Ras-related GTPase Ran, the frequent significant decrease observed in its expression in prostate cancer associated with the difference in frequency of CHC1-L variant isoforms between normal and neoplastic prostate tissues places it in a pivotal role or possibly adjacent to a gene that has that role in prostate cancer evolution. 12115502 2002
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: C0339789
Disease: Congenital deafness
Congenital deafness
0.010 Biomarker disease BEFREE DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness. 10571079 1999
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 AlteredExpression phenotype 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: C0007097
Disease: Carcinoma
Carcinoma
0.010 Biomarker group BEFREE Furthermore, little is known about the relationship between RCC1 and carcinomas. 29789527 2018
Human immunodeficiency virus (HIV) II infection category B1
0.010 Biomarker disease BEFREE In humans, homologous to the E6-AP carboxyl terminus (HECT) and regulator of chromosome condensation 1 (RCC1)-like domain-containing protein 5 (HERC5) is an interferon-induced protein that inhibits replication of evolutionarily diverse viruses, including human immunodeficiency virus type 1 (HIV-1). 29669830 2018
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: 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
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 AlteredExpression 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
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 AlteredExpression 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 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