RPS7, ribosomal protein S7, 6201

N. diseases: 52; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675511
Disease: Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 8
0.600 Biomarker disease GENOMICS_ENGLAND Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 19061985 2008
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.450 Biomarker disease BEFREE We also demonstrate that mutations of RPL5, RPL11, or RPS7 in DBA cells is associated with diverse defects in the maturation of ribosomal RNAs in the large or the small ribosomal subunit production pathway, expanding the repertoire of ribosomal RNA processing defects associated with DBA. 19061985 2008
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.450 Biomarker disease GENOMICS_ENGLAND We also demonstrate that mutations of RPL5, RPL11, or RPS7 in DBA cells is associated with diverse defects in the maturation of ribosomal RNAs in the large or the small ribosomal subunit production pathway, expanding the repertoire of ribosomal RNA processing defects associated with DBA. 19061985 2008
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
0.300 Biomarker phenotype GENOMICS_ENGLAND Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 19061985 2008
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.450 GeneticVariation disease BEFREE DBA has been associated with mutations in seven ribosomal protein (RP) genes, RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, and RPS7, in about 43% of patients. 20116044 2010
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
0.010 GeneticVariation disease BEFREE DBA has been associated with mutations in seven ribosomal protein (RP) genes, RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, and RPS7, in about 43% of patients. 20116044 2010
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.450 GeneticVariation disease BEFREE Recent advances in identifying the genetic abnormalities underlying DBA have demonstrated involvement of genes encoding both large (RPL) and small (RPS) ribosomal subunit proteins, including mutations of RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 in 50% to 60% of affected patients. 21435509 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.300 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.300 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
0.300 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.300 Biomarker group CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
0.300 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.450 GeneticVariation disease BEFREE Several reports show that DBA is associated with mutations in the ribosomal protein (RP) genes, RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, and RPS7. 22510774 2012
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.450 Biomarker disease BEFREE Here we report the first two mouse mutations (Rps7(Mtu) and Rps7(Zma)) of ribosomal protein S7 (Rps7), a gene that has been implicated in Diamond-Blackfan anemia. 23382688 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Both the in vitro anchorage-independent colony formation and in vivo animal tumor formation capability of cells were enhanced after RPS7 was depleted. 24244431 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 Biomarker group BEFREE Small ribosomal protein subunit S7 (RPS7) has been reported to be associated with various malignancies, but the role of RPS7 in ovarian cancer remains unclear. 24244431 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 Biomarker phenotype BEFREE In sum, our results suggest that RPS7 suppresses ovarian tumorigenesis and metastasis through PI3K/AKT and MAPK signal pathways. 24244431 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 GeneticVariation group BEFREE Interestingly, Rps7 mutants have additional overt malformations of the developing central nervous system and deficits in working memory, phenotypes that are not reported in murine or human RP gene mutants. 23382688 2013
CUI: C0002871
Disease: Anemia
Anemia
0.010 GeneticVariation disease BEFREE Conversely, Rps7 mouse mutants show no anemia or hyperpigmentation, phenotypes associated with mutation of human RPS7 and other murine RPs, respectively. 23382688 2013
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities
0.010 Biomarker group BEFREE Rps7 disruption results in decreased body size, abnormal skeletal morphology, mid-ventral white spotting, and eye malformations. 23382688 2013
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 Biomarker phenotype BEFREE In sum, our results suggest that RPS7 suppresses ovarian tumorigenesis and metastasis through PI3K/AKT and MAPK signal pathways. 24244431 2013
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 Biomarker disease BEFREE Thus, RPS7 may be used as a potential marker for diagnosis and treatment of ovarian cancer. 24244431 2013
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 Biomarker disease BEFREE Thus, RPS7 may be used as a potential marker for diagnosis and treatment of ovarian cancer. 24244431 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE We also showed that silencing of RPS7 enhanced ovarian cancer cell migration and invasion. 24244431 2013
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 Biomarker disease BEFREE Thus, RPS7 may be used as a potential marker for diagnosis and treatment of ovarian cancer. 24244431 2013