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 Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. 27882484 2017
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: C2675511
Disease: Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 8 		0.600 CausalMutation disease CLINVAR
CUI: C2675511
Disease: Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 8 		0.600 Biomarker disease CTD_human
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.450 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.450 Biomarker disease GENOMICS_ENGLAND Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. 27882484 2017
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: 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 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: 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: 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: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.450 CausalMutation disease CLINVAR
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: 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: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.100 Biomarker disease HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0018564
Disease: Hand deformities
Hand deformities 		0.100 Biomarker group HPO