Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 AlteredExpression disease BEFREE The expression and function of RCC1 in HPV-related cervical cancer and cell cycle regulation have not yet been explored. 29789527 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE The mutant allele was lost in 4/6 breast tumors from mutation carriers which may be consistent with the hypothesis that RCC1 dysfunction provides a selective disadvantage at the stage of tumor progression. 29363114 2018
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 AlteredExpression disease BEFREE The expression and function of RCC1 in HPV-related cervical cancer and cell cycle regulation have not yet been explored. 29789527 2018
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 GeneticVariation disease BEFREE To elucidate the molecular basis of breast cancer in the Tunisian population, we performed exome sequencing on six BRCA1/BRCA2 mutation-negative patients with familial breast cancer and identified a novel frameshift mutation in RCC1, encoding the Regulator of Chromosome Condensation 1. 29363114 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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 GeneticVariation group BEFREE The mutant allele was lost in 4/6 breast tumors from mutation carriers which may be consistent with the hypothesis that RCC1 dysfunction provides a selective disadvantage at the stage of tumor progression. 29363114 2018
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
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: C4048328
Disease: cervical cancer
cervical cancer 		0.010 AlteredExpression disease BEFREE The expression and function of RCC1 in HPV-related cervical cancer and cell cycle regulation have not yet been explored. 29789527 2018
CUI: C0206659
Disease: Embryonal Carcinoma
Embryonal Carcinoma 		0.010 AlteredExpression disease BEFREE In vitro differentiation of the NTERA2 EC cell line resulted in significantly reduced expression of both fusion transcripts involving RCC1 and the ETV6 transcript variant, indicating that they are markers of pluripotency in a malignant setting. 26659575 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 PosttranslationalModification phenotype BEFREE Methylation-silencing RCC1 expression is associated with tumorigenesis and depth of invasion in gastric cancer. 26823742 2015
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 Biomarker disease BEFREE We firstly identified RCC1 gene hypermethylation in gastric tumor tissues using the differential methylation hybridization (DMH) microarray, but the role of RCC1 in the pathogenesis of gastric carcinoma is largely unknown. 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: 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
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
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: 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: 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: 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
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.010 GeneticVariation phenotype BEFREE The mutation, which falls within the RCC1 domain, was identified in a 34-year-old patient with typical signs of JPLS such as ascending generalized and severe spasticity involving the limbs and the bulbar region, dysphagia, limb atrophy, preserved cognition and sensation. 16670179 2006
CUI: C0004096
Disease: Asthma
Asthma 		0.010 Biomarker disease BEFREE RasGRP4, a new mast cell-restricted Ras guanine nucleotide-releasing protein with calcium- and diacylglycerol-binding motifs. Identification of defective variants of this signaling protein in asthma, mastocytosis, and mast cell leukemia patients and demonstration of the importance of RasGRP4 in mast cell development and function. 11956218 2002
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: 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